Histone acetylation Enzymatic addition of acetyl groups to the amino-terminal lysine residues of histone proteins, decreasing their positive charge to relax nucleosome packing.

Also: permissive histone acetylation · chromatin relaxation due to acetylation · histone acetylated marking

Long non-coding ribonucleic acid Transcribed RNA molecule longer than two hundred nucleotides that lacks translation potential, acting as an epigenetic regulator.

Also: lncRNA · Long non-coding RNA · Long regulatory RNA

DNA helicase Enzyme responsible for catalyzing the separation of the two strands of the DNA double helix through the hydrolysis of ATP, facilitating the advancement of the replication fork.

Also: replication helicase · DNA unwinding enzyme · double-strand separator

DNA ligase Enzyme that catalyzes the establishment of covalent phosphodiester bonds between adjacent DNA fragments, repairing nicks and sealing the synthesized fragments.

Also: replicative DNA ligase · strand-sealing enzyme · Cellular DNA ligase

DNA polymerase I Prokaryotic enzyme involved in DNA replication and repair that removes RNA primers through its 5' to 3' exonuclease activity and fills the gaps with deoxyribonucleotides.

Also: bacterial reparative polymerase · Prokaryotic DNA pol I · primer removal enzyme

DNA polymerase III Prokaryotic multienzyme complex responsible for carrying out the exponential and high-fidelity synthesis of the leading and lagging strand of DNA in the 5' to 3' direction.

Also: Replicative DNA pol III · main bacterial replicase · prokaryotic replicative polymerase

High fidelity eukaryotic replicative DNA polymerase Delta or epsilon polymerase enzyme complex that synthesizes nuclear DNA strands and has the ability to read corrective tests.

Also: Replicative delta DNA polymerase · eukaryotic high-fidelity replicative polymerase · replicative eukaryotic correction enzyme

Recombinant DNA Hybrid DNA molecule formed in vitro through the covalent and artificial union of segments of genetic material belonging to different biological organisms.

Also: Hybrid recombinant DNA · DNA molecular chimera · recombinant gene construct

Chimeric recombinant DNA DNA molecule artificially constructed by joining fragments of nucleic acids from multiple different unrelated species using molecular technology.

Also: recombinant DNA chimera · chimeric molecular construct · Exotic recombinant DNA

Satellite DNA Fraction of tandem repetitive sequences located mainly in the centromeric and telomeric heterochromatin domains of mitotic chromosomes.

Also: Structural satellite DNA · massive non-coding repeated sequences · Centromeric repeated DNA

Dominant lethal allele Pathogenic gene variant that causes the death or biological inviability of the organism that carries it in the presence of a single copy of it.

Also: dominant lethal variant · dominant infeasibility factor · dominant lethality gene

Homologous sequence alignment Computational comparison that arranges multiple DNA or protein sequences in a linear manner to identify similarities, divergences and evolutionary relationships of interest.

Also: sequence homology alignment · homologous sequence comparison · bioinformatic homology analysis

Alignment of cellular homologous sequences Bioinformatics optimization method designed to linearly compare eukaryotic biological sequences and identify conserved structural domains and evolutionary relationships.

Also: bioinformatic comparison of homologous sequences · conserved sequence alignment · molecular mapping of eukaryotic homology

Aminoacyl-tRNA synthetase Specific enzyme responsible for extremely precisely coupling a free amino acid to its corresponding transfer RNA molecule.

Also: amino acid activating enzyme · aminoacyl-transferase · charged tRNA synthetase

Structural chromosomal anomaly Alteration that modifies the structure of one or more eukaryotic chromosomes due to physical breaks and incorrect fusions of chromosome segments.

Also: chromosomal structural alteration · structural change of chromosome · abnormal chromosome rearrangement

Numerical chromosomal anomaly Pathological variation that affects the number of total chromosomes characteristic of the human diploid karyotype without altering its linear physical structure.

Also: numerical chromosomal alteration · change in chromosome number · numerical variation of karyotype

Family clinical anticipation Phenomenon in which the manifestations of a hereditary pathology due to expansion of base repeats appear progressively more severe in the pedigree.

Also: clinical generational anticipation · aggravation of trait in pedigree · inherited early clinical manifestation

Gene anticipation Hereditary clinical phenomenon characterized by the worsening of symptoms and the increasingly earlier appearance of a disease in successive family generations.

Also: family generational anticipation · progressive hereditary aggravation · early appearance of trait

Molecular gene anticipation by unstable triplets Phenomenon characterized by the progressive and unstable increase in tandem repeats of nucleotides that correlates with the early appearance of hereditary pathology.

Also: expansive expansion by molecular anticipation · microsatellite elongation due to anticipation · generational growth of unstable triplets

Biological fitness Measure that quantifies the relative efficiency of survival and reproductive success of an individual carrying a specific genotype within its environment.

Also: evolutionary fitness · adaptive biological efficiency · relative reproductive success

Family tree Graph that represents in a systematic and structured way the biological kinship connections and the pattern of transmission of a trait in multiple family generations.

Also: medical family pedigree · pedigree inbreeding tree · clinical heredogram

Transfer RNA Small RNA molecule with a three-dimensional cloverleaf structure that transports a specific amino acid to the ribosome, recognizing the codon through its complementary anticodon.

Also: Translation tRNA · Soluble transfer RNA · tRNA

Mature messenger RNA Processed RNA molecule that has undergone the addition of the 5' cap, the addition of the 3' poly-A tail and the complete removal of the introns ready to be translated.

Also: Messenger RNA processed · cytoplasmic mature mRNA · functional mature transcript

RNA polymerase I Eukaryotic enzyme located in the cell nucleolus specialized in carrying out the coordinated transcription of the precursors of major ribosomal ribonucleic acids.

Also: ribosomal polymerase I · eukaryotic RNA pol I · rRNA synthesizer

RNA polymerase II Eukaryotic enzyme complex responsible for transcribing all protein-coding genes into messenger RNA precursors and various small non-coding RNAs.

Also: RNA polymerase II · eukaryotic RNA pol II · messenger RNA transcriptase

RNA polymerase III Eukaryotic nuclear enzyme specialized in transcribing small non-coding genes such as transfer RNA and size five S ribosomal RNA.

Also: transfer polymerase III · eukaryotic RNA pol III · tRNA transcriptase

Mitochondrial RNA polymerase Specific enzyme responsible for carrying out the coordinated transcription of the genes contained in the double-stranded mitochondrial genome within the organelle matrix.

Also: mitochondrial transcriptase · Mitochondrial RNA pol · mitochondrial transcriptional enzyme

RNAprimase RNA polymerase specialized in the synthesis of short RNA primer fragments on the single-stranded DNA template so that the DNA polymerase initiates elongation.

Also: replicative primase · RNA primer synthesizer · Initiating DNA-dependent RNA polymerase

ribosomal RNA Structural and catalytic ribonucleic acid of great cellular importance that makes up the functional core of the ribosome, responsible for guiding the synthesis of peptide bonds.

Also: Cellular rRNA · Catalytic ribosomal RNA · rRNA

Nonrandom association of alleles in linkage disequilibrium Statistical population situation in which specific allelic combinations of multiple loci are inherited together with a significantly abnormal frequency.

Also: allele linkage disequilibrium · LD of population alleles · preferential association of alleles in linkage

Chromosome banding Cytogenetic processing techniques that use specific chemical reagents to generate characteristic patterns of light and dark bands on metaphase chromosomes.

Also: structural chromosome banding · band staining pattern · selective cytogenetic banding

Banding of mitotic chromosomes by heat denaturation and fluorescent staining Advanced cytogenetic techniques that employ thermal denaturing agents and fluorescent dyes to reveal detailed karyotype banding patterns.

Also: fluorescent chromosome banding · fluorescent staining of mitotic bands · banding of mitotic chromosomes by heat and fluorescence

Banding of mitotic chromosomes by thermal denaturation of heat and Giemsa staining Cytogenetic processing that denatures regions rich in adenine and thymine to reveal characteristic staining patterns of light and dark bands.

Also: R banding due to thermal denaturation · Giemsa thermal chromosome banding · chromosomal banding staining by heat and Giemsa

Banding of mitotic chromosomes by heat thermal denaturation and high resolution Giemsa staining Cytogenetic study evaluating reverse staining prometaphase chromosomes to identify small scale gene rearrangements and duplications.

Also: detailed R banding due to thermal denaturation · reverse Giemsa chromosome banding · prometaphase heat and Giemsa staining of chromosome bands

Banding of mitotic chromosomes by thermal denaturation and coordinated trypsin Combined classical cytogenetic techniques that reveal stable patterns of light and dark structural bands characteristic of the diploid karyotype.

Also: conventional GTG banding · high resolution G banding by trypsin · differential staining of chromosome bands by heat and trypsin

Banding of mitotic chromosomes by denaturation and specific dyes Set of conventional cytogenetic techniques that generate stable patterns of light and dark bands characteristic of the diploid karyotype of mitosis.

Also: conventional chromosome banding · banding of mitotic chromosomes · differential chromosomal band staining

NCBI genomic database Public bioinformatics platform that stores, classifies and manages millions of genomic, transcriptomic and protein sequences from the global scientific community.

Also: NCBI database · NCBI genomic repository · national center for biotechnology information

Arm p Conventional designation that defines the structurally shortest chromosomal region that is located above the centromeric constriction in a standardized karyotype.

Also: short arm of the chromosome · short arm p · upper short chromosome region

Arm q Denomination that defines the longest region of a chromosome located below the constriction of the centromere in cytogenetic representations.

Also: long arm of chromosome · long arm q · lower long chromosome region

Replication bubble Region of double-stranded uncoiled DNA where the duplication process is taking place bidirectionally from a point of origin.

Also: replication eye · bidirectional duplication zone · chromosome copying bubble

Cellular nuclear coordinated bidirectional replication bubble Active region of nuclear DNA unwinding in which two replication forks progress divergently in opposite directions.

Also: nuclear coordinated replicative bubble · bidirectional replication eye · divergent nuclear DNA duplication zone

CAAT box Regulatory element of the eukaryotic promoter that decisively influences the rate and overall efficiency with which the transcription of a specific gene is carried out.

Also: CAAT consensus sequence · CAAT control box · CAAT regulatory element

TATA box Consensus sequence rich in adenine and thymine essential for the correct positioning and initial recruitment of RNA polymerase II in eukaryotic promoters.

Also: TATA element · TATA promoter box · TATA consensus sequence

Capirota from the end 5' Post-transcriptional modification consisting of the addition of an inverted 7-methylguanosine at the 5' end of the pre-messenger RNA to protect it and guide translation.

Also: cap 5' · messenger RNA cap · cap structure 5'

Capiroque of the 5' end of nuclear mature messenger RNA Methylguanosine modification at the 5' end that plays a critical role in protecting against nucleases and recruiting translation factors.

Also: messenger RNA 5' cap · transcriptional 5' end cap · RNA 5' cap protective structure

Capirote of the 5' end of mature eukaryotic transcript Post-transcriptional modification of methylguanosine that protects messenger RNA from nucleases and coordinates the binding of translation initiation factor.

Also: 5' cap of mature eukaryotic RNA · cap of mature eukaryotic transcript · protective end cap 5' eukaryote

Capirocated from the 5' end of eukaryotic mature transcript of active messenger RNA protection Inverted methylguanosine post-transcriptional modification that prevents cellular enzymatic degradation by exonucleases and directs polypeptide synthesis.

Also: protective messenger RNA 5' cap · 5' end cap of mature eukaryotic transcript · eukaryotic 5' cap protective end of messenger RNA

Capirocated from the 5' end of mature eukaryotic protective RNA transcript Methylguanosine modification at the 5' end that blocks degradation by exonucleases and coordinates RNA export and translation.

Also: eukaryotic protective cap 5' · eukaryotic protection transcript cap · 5' cap end of eukaryotic messenger RNA

Mutational carcinogenesis Process of gradual accumulation of irreversible molecular changes in cellular DNA that inactivates tumor suppression systems leading to cancer.

Also: mutational oncogenesis · tumor initiation due to somatic variant · genomic carcinogenesis

Carcinogenic Any exogenous chemical, physical or biological agent with the intrinsic property of inducing cumulative genotomic damage, promoting the development of malignant tumors.

Also: exogenous tumor inducer · chemical oncogenic agent · genotoxic environmental procarcinogenic

Karyoplasma Internal medium of colloidal composition, dense and complex suspended within the envelope of the karyotheca where the functions of nuclear replication and transcription are carried out.

Also: nucleoplasm · colloidal nuclear matrix · internal nuclear liquid

G-band karyotype by enzymatic digestion and Giemsa staining Classical cytogenetic differential staining procedure that uses trypsin and Giemsa stain to reveal stable patterns of dark and light bands.

Also: conventional G banding · Giemsa band karyotype · classical G chromosome banding staining

Spectral karyotype Advanced molecular technique that combines stained chromosome probes with differential fluorochromes to unequivocally identify each chromosome pair with a unique color.

Also: SKY · multicolor chromosome hybridization · karyotype spectral chromosome analysis

High resolution banded prometaphasic karyotype Cytogenetic study that evaluates chromosomes in their early condensation state, allowing the identification of invisible submicroscopic deletions in standard prometaphase karyotypes.

Also: high resolution prometaphasic karyotype · detailed prometaphasic banding · high resolution prometaphase cytogenetics

High-resolution prometaphase G-band karyotype Refined cytogenetic analysis that evaluates the structure of mitotic chromosomes in the early prometaphase phase revealing a high number of detailed bands.

Also: detailed prometaphasic karyotype · early prometaphase G banding · detailed prometaphase cytogenetics

High resolution prometaphase karyotype of G bands by coordinated trypsin digestion Refined cytogenetic analysis employing partial digestion of nuclear proteins to reveal detailed banding of early condensed chromosomes.

Also: prometaphase G-band karyotype by trypsin · prometaphase G banding by coordinated trypsin · trypsin-refined prometaphase chromosome analysis

High resolution prometaphase karyotype of G bands by coordinated trypsin digestion with high reproducibility Refined analysis that uses standardized trypsin to selectively degrade nuclear histones ensuring clear prometaphase chromosome banding.

Also: prometaphasic karyotype with high reproducibility by trypsin · G banding of trypsinized prometaphase · prometaphase chromosome analysis by high-quality coordinated trypsin

High resolution prometaphase karyotype of G bands by enzymatic digestion Refined cytogenetic analysis using trypsin and Giemsa dye to thoroughly evaluate chromosome structure and identify small rearrangements.

Also: prometaphasic G-band karyotype · G banding of prometaphase by trypsin · high resolution prometaphase analysis with trypsin

Caspase Family of proteases that contain catalytic cysteine residues responsible for mediating the destruction of key protein targets by coordinating cell apoptosis.

Also: cell death effector protease · apoptosis cellular caspase · apoptotic effector kinase

End effector caspase Hydrolytic enzyme that degrades key nuclear and structural substrates responsible for executing the nuclear and cellular fragmentation characteristic of apoptosis.

Also: cellular effector caspase · final execution caspase · apoptotic terminal protease

Centimorgan Conventional unit of genetic map distance equivalent to a one percent probability of recombination between two chromosomal markers evaluated.

Also: cM recombinant map unit · centiMorgan genetic · relative chromosome distance

Centromere Specialized chromosomal region that joins sister chromatids and acts as the assembly site for the kinetochore, regulating segregation during karyokinesis.

Also: primary chromosome constriction · condensed central American region · chromatid junction zone

Competent bacterial strain Culture of bacteria treated by chemical or physical methods to temporarily increase the permeability of their cell membrane, facilitating the uptake of exogenous DNA.

Also: competent bacteria · transformation recipient bacterial strain · competent cells for cloning

Molecular chaperone Family of proteins responsible for assisting and guiding the correct three-dimensional folding of newly synthesized amino acid chains, preventing their anomalous aggregation.

Also: folding chaperone protein · cellular chaperonin · protein folding assistant

Cycline Cellular regulatory protein whose concentration fluctuates cyclically to interact with specific kinases, promoting the transition of the phases of the divisional cycle.

Also: cyclinic activator · cell cycle cell protein · division-regulating cyclin

Cell cycle Highly coordinated sequence of chromosome replication, maturation and segregation processes that a eukaryotic cell undergoes to generate two viable daughter cells.

Also: mitotic cell progression · phases of cell division · replicative cell ontogeny

Cinetochorus Multiprotein complex assembled transiently on the centromeric region of the chromosome that serves as an anchoring point for the microtubules of the mitotic apparatus.

Also: centromere protein plate · kinetochoric anchoring structure · chromosomal spindle anchoring

Cistron Functional unit of nuclear or extracellular deoxyribonucleic acid that directly and independently codes for the synthesis of a polypeptide or functional RNA chain.

Also: polypeptide-encoding gene · cistronic segment · cistronic transcriptional unit

Cell nuclear independent polypeptide cistron Functional segment of nuclear genomic DNA that contains all the coding information essential for the synthesis of a polypeptide with specific metabolic activity.

Also: nuclear polypeptide-encoding gene · eukaryotic functional cistron · cistronic segment of nuclear DNA

Nuclear polypeptide cistron independent of specific expression Nuclear gene that directly codes for the synthesis of a peptide chain of independent enzymatic or structural activity expressed in a specific tissue.

Also: specific polypeptide-encoding gene · specific functional nuclear cistron · cistronic segment of directed expression

Molecular cytogenetics Specialty of medical genetics that integrates conventional microscopy techniques and molecular biology to analyze fine chromosomal structural anomalies with high resolution.

Also: molecular chromosome analysis · high resolution cytogenetics · molecular cytogenomics

In vitro gene cloning Molecular biology technique that allows a coding DNA fragment to be inserted into a replicating plasmid to multiply it in isolation.

Also: in vitro gene cloning · clonal gene replication · amplification of gene insert in plasmid

Histone epigenetic code Coordinated network of covalent post-translational modifications in nuclear histone tails that collectively regulate the accessibility of the transcription machinery to the genome.

Also: combined histone marks · histone epigenomic code · coordinated pattern of histone modification

Codominance Non-Mendelian genetic inheritance pattern in which both alleles present in a heterozygous individual are expressed simultaneously, completely, and quantifiable in the phenotype.

Also: combined expression of alleles · perfect allelic codominance · shared trait dominance

Inbreeding coefficient Mathematical probability value that an individual inherits two identical allelic copies coming directly from a common ancestor of their parents.

Also: coefficient F of inbreeding · genomic autoigosis index · probability of identity by descent

Polyadenylation tail Enzymatic and coordinated addition of multiple adenine residues at the 3' end of the mature messenger RNA to regulate its stability and export to the cytoplasm.

Also: poly-A queue · 3' terminal polyadenylation · polyadonylated end of messenger RNA

Dose compensation Epigenetic regulatory mechanism that equates the expression levels of genes linked to the X chromosome between sexes that have different numbers of sex chromosomes.

Also: sexual gene dose adjustment · sex chromosome compensation · gonosomal epigenetic compensation

X chromosome dose compensation by molecular lyonization Epigenetic process coordinated by the Xist gene that induces condensative silencing of one of the X chromosomes in somatic female cells.

Also: molecular dose compensation of X · Xist-mediated X inactivation · molecular epigenetic lyonization of the

Regulatory nuclear cell pore complex Highly selective macromolecular transport structure responsible for closely discriminating the passage of mature messenger RNAs to the cytoplasm.

Also: selective regulatory nuclear pore · selective pore complex · selective karyoteca door

Nuclear cell pore complex regulating active transport of transcripts Macromolecular transport structure that actively mediates and discriminates the transit of mature messenger RNA macromolecules through the karyotheque.

Also: nuclear pore for active transport of transcripts · karyokinetic active transport regulatory complex · selective active transport nuclear gate

Nuclear cell pore complex regulating messenger RNA transport Macromolecular protein structure that selectively discriminates and allows the export of processed mature messenger RNA from the karyotheque to the cytoplasm.

Also: messenger RNA transporting nuclear pore · transcript transport pore regulatory complex · nuclear messenger RNA transport gate

Nuclear pore complex Large macromolecular protein structure that traverses the nuclear cell envelope to strictly regulate the bidirectional and selective transport of ribonucleic acid and protein macromolecules.

Also: selective nuclear pore · karyoteca macromolecular channel · nuclear transport gate

RNA-induced silencing complex Complex of cellular ribonucleoproteins that uses a short guide RNA molecule to identify and degrade complementary messenger RNAs, blocking their expression.

Also: RISC complex · RNA silencing machinery · RISC ribonucleoprotein complex

Cellular RNA-induced silencing complex Cytoplasmic enzyme assembly that processes specific small interfering RNAs to specifically degrade target cellular transcripts.

Also: active RISC complex · molecular machinery of gene silencing · eukaryotic RNA interference complex

Polycomb repressive complex Epigenetic enzymatic machinery that catalyzes repressive histone methylation maintaining long-term silencing of cellular development genes.

Also: Polycomb PRC1 repressor complex · Polycomb PRC2 repressive regulator · Polycomb epigenetic repressor complex

Constitutive silencing epigenetic Polycomb repressor complex Enzymatic assembly that adds repressive methylation marks to histones to permanently block non-lineage-specific genes.

Also: Polycomb active silencing complex · Polycomb epigenetic repressive machinery · Polycomb constitutive silencer

CRISPR ribonucleoprotein complex Molecular assembly composed of a Cas9 nuclease associated with a single-stranded guide RNA used to target specific double-stranded cuts in the nuclear genome.

Also: CRISPR-Cas9 complex · active CRISPR ribonucleoprotein · CRISPR editing complex

SWI/SNF complex Multiprotein chromatin remodeling complex that uses energy derived from ATP hydrolysis to displace nucleosomes and activate transcription.

Also: ATP-dependent remodeling complex SWI/SNF · SWI/SNF remodeling regulator · SWI/SNF euchromatic complex

Consanguinity Relationship link of biological origin established between two individuals who share at least one direct common ancestor in their close genealogy.

Also: direct blood relationship · inbreeding · biological consanguinity

Cosmid Artificially designed hybrid cloning vector that unites the cos sequence of the lambda bacteriophage with plasmid elements allowing the transport of large volume DNA fragments.

Also: cosmid hybrid cloning vector · modified plasmid with cos ends · large insert cosmic vector

CRISPR-Cas9 Programmable bacterial immunity system adapted by molecular engineering that uses a complementary guide RNA to drive the Cas9 nuclease to make precise DNA cuts.

Also: Cas9 molecular scissors system · CRISPR editing technology · CRISPR-Cas9 ribonucleoprotein system

Sister chromatid One of the two identical copies resulting from the replication of the deoxyribonucleic acid of a single chromosome, physically and transiently joined by the centromere during cell mitosis.

Also: replicated chromatid · duplicated chromosome arm · identical chromosome copy

Nuclear chromatin Dynamic complex formed by deoxyribonucleic acid, histone proteins and non-histone proteins that constitutes the genomic material of the nucleus of eukaryotic cells.

Also: nuclear genomic array · eukaryotic chromatin substance · nuclear nucleoprotein filament

Barr's sexual chromatin Dense structure observable at nuclear interphase that represents the inactive X chromosome condensed by permanent epigenetic modifications in female mammals.

Also: sexual chromatin Barr body · condensed corpuscle of the · female sex chromatid

Molecular exclusion chromatography Biophysical purification technique that separates macromolecules of nucleic acids or proteins in solution based on their size and relative molecular weight.

Also: gel filtration chromatography · pore exclusion fractionation · molecular size chromatography

Molecular exclusion chromatography by polymer matrix size Biophysical analytical technique that uses a column of porous beads to separate protein and nucleic acid macromolecules in a non-denaturing manner.

Also: chromatographic purification by size · separation by exclusion of polymeric pores · bead molecular filtration chromatography

Size exclusion chromatography of denaturing polymeric matrix Biophysical separation method that uses denaturing agents to accurately evaluate the molecular weight of polypeptide chains.

Also: denaturing exclusion chromatography · separation by exclusion of denaturing pores · molecular filtration of denatured proteins

Size exclusion chromatography of linear denaturing polymeric matrix Fractionation that uses urea or SDS to evaluate the weight of the polypeptide chains in a manner strictly dependent on their linear length.

Also: denaturing linear exclusion chromatography · denaturing linear molecular separation · linear molecular filtration by exclusion

Size exclusion chromatography of linear denaturing polymer matrix of polypeptides Technique that uses a matrix of porous beads and anionic detergents to classify and purify proteins in a manner strictly dependent on their linear molecular weight.

Also: peptide linear exclusion chromatography · Molecular separation of linear denaturing polypeptides · linear protein molecular filtration by SDS

Native polymeric matrix size exclusion chromatography Biophysical purification that uses non-denaturing physiological conditions to classify protein and nucleic acid complexes according to their volume.

Also: native size exclusion chromatography · native molecular size fractionation · non-denaturing molecular separation by beads

Ion exchange chromatography Biophysical analytical method of molecular separation that uses a charged polymeric matrix to differentially arrange proteins or nucleic acids according to their net surface electric charge.

Also: separation by ion chromatography · fractionation by electrostatic charge · net charge chromatography

Chromomer Local granular accumulation of condensed chromatin along the chromosome strand visualized as a distinctive microscopic banding pattern during meiotic prophase.

Also: chromatin granule · chromatin condensation knot · prophase microscopic band

Cromonema Condensed and spiralized chromatin filament of a helical shape that constitutes the internal structural skeleton or axis of the chromatids of a chromosome during the early phases of division.

Also: chromosomal filament · structural chromatid axis · condensed chromosome strand

Condensed chromosomal chromosome Tightly spiralized nuclear filament of chromatin that forms the visible compact morphological scaffolding of chromosomes during cellular prometaphase.

Also: metaphasic condensed chromonema · chromatid condensation filament · dense chromosome axis

Metaphase condensed chromosome chromosome Dense filament of chromatin that undergoes extreme helical packing, forming the chromatids of the chromosomes identifiable in mitotic karyotypes.

Also: condensed chromosome filament · condensed metaphase chromoneme · dense chromatin scaffolding of mitosis

Condensed metaphase chromosome chromosome of extreme compaction Densely packed structure of chromatin filament that organizes the characteristic morphology of chromatids during the mitotic metaphase phase.

Also: metaphase condensed chromoneme · mitotic compaction chromatin filament · dense metaphase chromosome scaffold

Metaphasic chromosomal chromosome Condensed chromatidial filament that organizes the visible morphological helical axis of the chromosome during the metaphase of mitotic division.

Also: dense metaphasic chromonema · axial filament of chromatid · structural axis of mitotic chromosome

Chromosome Organized and highly condensed macromolecular structure formed by deoxyribonucleic acid and histone proteins that contains most of the genetic information of a living being.

Also: condensed strand of DNA · chromosomal inheritance element · nuclear chromatin package

Acrocentric chromosome Chromosome showing its centromere located at the upper terminal end substantially reducing the short p arm to a thin filament called chromosome satellite.

Also: quasi-terminal centromere chromosome · acrocentric chromosome morphology · human acrocentric

Bacterial artificial chromosome Low-copy stable genomic cloning vector derived from Escherichia coli fertility factor F used to maintain large human genome fragments.

Also: BAC · artificial bacterial chromosome vector · giant bacterial cloning plasmid

Artificial yeast chromosome Recombinant eukaryotic molecular vector constructed from centromeres, telomeres, and fungal origins of replication designed to harbor gigantic genomic DNA inserts.

Also: YAC · artificial fungal chromosome vector · giant insert fungal eukaryotic plasmid

Homologous chromosome Each of the two chromosomes belonging to a diploid pair that have the same structural arrangement of their genetic loci, carrying one of maternal and one paternal origin.

Also: pair of homologous chromosomes · homologous paired chromosomes · chromosomal homolog

Marker chromosome Small supernumerary chromosomal structure of undetermined origin whose structural identification requires the use of advanced molecular cytogenetics techniques.

Also: undefined supernumerary chromosome · abnormal cytogenetic marker · undefined extra chromosomal element

Metacentric chromosome Chromosome that has its centromere in a practically equidistant central position, dividing the structure into two arms of length and symmetrical appearance.

Also: chromosome with central symmetry · diploid metacentric chromosome · metacentric chromosome morphology

Submetacentric chromosome Chromosome that has its centromere discreetly displaced from the middle area, generating a visible asymmetry between the length of its p arm and its q arm.

Also: middle asymmetric centromere chromosome · submetacentric chromosome morphology · submiddle asymmetric chromosome

Supernumerary chromosome Small extra chromosome that exceeds the normal diploid chromosome complement of forty-six chromosomes, which may or may not be associated with clinical alterations.

Also: extra chromosome element · supernumerary marker chromosome · accessory chromosome of the karyotype

Supernumerary chromosome marker undefined cytogenetic marker Extra chromosomal element in the human diploid karyotype of undefined origin that requires the use of multicolor FISH techniques for correct typing.

Also: supernumerary cytogenetic marker · undefined marker chromosome · structurally abnormal accessory chromosome

Supernumerary chromosome marker extra mosaic chromosome marker Small extra chromosome caused by sporadic rearrangements that occurs in a percentage of the patient's somatic cells.

Also: extra marker chromosome in mosaicism · somatic supernumerary cytogenetic marker · accessory chromosome mosaic chromosome

Telocentric chromosome Aberrant or species-characteristic chromosome in which the centromere occupies the absolute terminal end of the chromosome structure, completely lacking a p arm.

Also: absolute terminal centromere chromosome · telocentric chromosome morphology · terminal telocentric

Evolutionary bottleneck Sudden reduction in the size of a biological population due to adverse environmental events causing a massive and indiscriminate loss of its previous genomic diversity.

Also: population genetic strangulation · demographic bottleneck · loss of diversity due to disaster

Barr's body Dense accumulation of highly condensed sexual chromatin representing the inactive X chromosome present against the nuclear envelope in somatic cells of female mammals.

Also: Barr corpuscle · mass of condensed sexual chromatin · inactive X chromosome marker

Genetic drift Fluctuating and random variation in allele frequencies within a population that occurs from one generation to another due to reproductive chance.

Also: population gene drift · allelic fluctuation by chance · stochastic frequency variation

Histone deacetylation Regulatory enzymatic process that removes acetyl groups from histones, increasing their electrostatic binding affinity with DNA to actively condense chromatin.

Also: histone deacetylation repression · histone deacetylation condensation · histone deacetylated marking

Population-specific Hardy-Weinberg disequilibrium Statistical deviation from the expected genotypic balance frequencies due to selection factors located in a specific biological community.

Also: local population genotypic imbalance · local Hardy-Weinberg deviation · alteration of community genotypic frequencies

Linkage disequilibrium Non-random association of alleles corresponding to multiple loci that are inherited together in a population with a frequency significantly higher than expected.

Also: Population LD · linkage disequilibrium · preferential association of alleles

Linkage disequilibrium of highly cohesive polymorphic haplotypes Tendency of a specific block of contiguous nucleotide polymorphisms to be inherited together due to physical barriers to recombination.

Also: High cohesive haplotypic LD · association of high cohesion alleles · reduced high recombination haplotype block

Linkage disequilibrium of polymorphic nucleotide haplotypes Preferential and non-random association of single nucleotide variants of a haplotype that are inherited together in the population under study.

Also: Haplotypic nucleotide LD · non-random association of haplotype nucleotide variants · population haplotypic cohesion

Active DNA demethylation Direct enzymatic removal of methyl groups from genomic cytokines coordinated by TET proteins without depending on cell division.

Also: direct enzymatic demethylation · active removal of cytokine methyls · active enzymatic demethylation pathway

DNA demethylation Regulatory cellular enzymatic mechanism responsible for actively or passively removing the methyl groups of cytokines in the genome, activating transcription.

Also: active cytosine demethylation · DNA methylation reversal · transcriptional activation by demethylation

Passive DNA demethylation Loss of cytosine methylation marks that occurs due to the absence of methyltransferases during successive cycles of cell replication.

Also: demethylation by replicative dilution · passive loss of methylation · passive replicative demethylation

Uniparental disomy Genetic phenomenon in which a diploid individual inherits both copies of a specific chromosome or chromosomal region from a single biological parent.

Also: UPD · uniparental chromosome set · disomy of uniparental origin

Uniparental disomy of the maternal chromosome due to trisomic rescue Phenomenon in which the sporadic loss of an extra chromosome in a trisomic zygote results in the persistence of two identical homologous maternal copies.

Also: Maternal UPD for rescue · maternal disomy due to chromosome loss · rescue from maternal trisomy to disomy

Uniparental disomy of the maternal chromosome due to zygotic trisomic rescue Accidental loss of the excess homologous paternal chromosome in an initially trisomic zygote resulting in an identical maternal disomic karyotype.

Also: Maternal UPD due to zygotic rescue · maternal disomy due to deletion of paternal homologue · rescue of trisomic zygote due to maternal disomy

Uniparental disomy of the paternal chromosome due to trisomic rescue Mechanism by which an exclusive paternal disomic karyotype is generated after the elimination of the maternal chromosome copy in an initially trisomic zygote.

Also: Paternal UPD for rescue · paternal disomy due to chromosome loss · rescue from paternal trisomy to disomy

Uniparental disomy of the paternal chromosome due to zygotic trisomic rescue Sporadic deletion of the maternal chromosome copy in a trisomic zygote that produces a functional homologous paternal disomic karyotype.

Also: Paternal UPD for zygotic rescue · paternal disomy due to deletion of maternal homologue · rescue of trisomic zygote due to paternal disomy

Maternal uniparental disomy Situation in which both homologous chromosome copies come exclusively from the biological mother as a result of failures in gametic disjunction.

Also: Maternal UPD · maternally derived disomy · maternal uniparental disomic inheritance

Paternal uniparental disomy Clinical situation consisting of the exclusive transmission of both copies of a specific chromosome by the biological father with the absence of a maternal copy.

Also: Paternal UPD · paternally derived disomy · paternal uniparental disomic inheritance

Independent distribution Principle that establishes that alleles belonging to different genes are inherited separately without the transmission of one trait affecting the transmission of the other.

Also: Mendel's third law of inheritance · law of independent transmission of factors · independent character segregation

Codominant dominance Simultaneous, equivalent and measurable expression in the phenotype of the properties encoded by each of the alleles present in the heterozygote.

Also: phenotypic codominance · shared dominance of homologous alleles · equivalent expression of alleles in heterozygosity

Codominant dominance of asymmetric phenotypic expression Hereditary situation in which the product of both alleles is evidently expressed simultaneously in the phenotype although with slight predominance of one of them.

Also: asymmetric phenotypic codominance · codominant expression of biased alleles · asymmetrical co-dominant intermediate dominance

Incomplete dominance Situation in which the phenotype exhibited by a heterozygous individual is an intermediate character between the phenotypes shown by the corresponding pure homozygotes.

Also: intermediate trait inheritance · partial allele dominance · intermediate phenotypic expression

Semi-complete dominance Phenomenon in which the phenotype manifested by the heterozygote closely approximates the phenotype shown by the dominant homozygote.

Also: asymmetric incomplete dominance · skewed intermediate expression · semi-complete trait dominance

Genomic segment duplication Structural gain of a genomic DNA fragment that is repeated in tandem or dispersedly, predisposing to gene dosage imbalance.

Also: segmental genomic duplication · segmental copy gain · DNA segment repetition

Duplication of low-copy contiguous genomic segment Structural gain of adjacently located large-scale DNA fragments that predisposes to gene dosage imbalance.

Also: contiguous segmental genomic duplication · copy contiguous segmental gain · repetition of contiguous low copy fragments

High homology low copy pericentromeric segmental duplication Identical DNA segments located in the vicinity of the centromere that recurrently predispose to unbalanced chromosome breaks and rearrangements.

Also: low-copy pericentromeric duplication · duplicated pericentromeric homology · high homology centromeric segmental duplication

Low-copy pericentromeric segmental duplication with high genomic homology Region of repetitive DNA located in the vicinity of the centromere that constantly predisposes to aberrant interchromosomal recombination.

Also: homologous segmental pericentromeric duplication · high homology low copy pericentromeric duplication · low segmental copy centromeric homology

High homology subtelomeric segmental duplication Large duplicated DNA region located in the vicinity of chromosomal telomeres that promotes aberrant recombination and changes in gene dosage.

Also: subtelomeric segmental duplication · repetitive telomeric structural homology · segmental telomeric duplication

Gene editing Set of molecular tools aimed at modifying specific nucleotide sequences of a cell's genome in a precise, predictable and controlled manner.

Also: precision genomic surgery · in situ genome correction · targeted genome editing

Programmable genome editing Directed in situ modification of specific genomic sequences using restriction nucleases programmed to induce cuts at specific points in the genome.

Also: targeted genome editing · precision genomic cutting technology · molecular genome reprogramming

Gene dose effect Direct correlation observed between the number of active physical copies of a gene and the final quantitative abundance of the encoded protein.

Also: quantitative gene dose · proportional gene abundance · proportional effect of gene copy

Founder effect Drastic reduction in genomic variability that occurs when a new population originates from an extremely small group of isolated individuals.

Also: founder genetic isolation · founder bottleneck · foundational gene simplification

Threshold effect Concept in multifactorial and mitochondrial inheritance that determines that the manifestation of a pathology only occurs when the load of unfavorable variants exceeds a critical limit.

Also: limit of clinical expression · threshold of pathological manifestation · cellular tolerance of variants

Endonuclease Hydrolytic enzyme specialized in catalyzing the cleavage of internal phosphodiester bonds located in the center of a double-stranded nucleic acid molecule.

Also: internal nucleic acid nuclease · internal DNA cleaving enzyme · phosphodiester bond hydrolase

Restriction enzyme Catalytic protein produced naturally by bacteria that recognizes and cleaves phosphodiester bonds at extremely specific palindromic sequence sites in DNA.

Also: molecular restriction endonuclease · bacterial DNA cutting enzyme · restrictive enzymatic scissors

Modified bacterial type II restriction endonuclease enzyme Bacterial catalytic protein for biotechnological use optimized to symmetrically and specifically cleave palindromic nucleotide sites in DNA.

Also: bacterial type II restriction enzyme · modified classic restrictive endonuclease · optimized type II restriction nuclease

Genetically modified bacterial type II restriction endonuclease enzyme High-specificity bacterial catalytic protein optimized by enzymatic engineering to cleanly and precisely cut palindromic sequences.

Also: optimized type II restriction enzyme · purified bacterial type II endonuclease · genetically optimized restrictive nuclease

Palindromic type II restriction endonuclease enzyme Specific bacterial catalytic protein that performs symmetric double-strand cuts exclusively within palindromic recognition sequences.

Also: palindromic type II restriction enzyme · symmetric restrictive endonuclease cutting · palindromic bacterial restrictive nuclease

Modified bacterial palindromic type II restriction endonuclease enzyme Enzyme-engineered optimized bacterial catalytic protein that cleaves symmetric phosphodiester bonds exclusively at specific recognition sites.

Also: optimized palindromic restriction enzyme · palindromic type II bacterial endonuclease · precision palindromic restrictive nuclease

Genetically modified bacterial palindromic type II restriction endonuclease enzyme Protein optimized by protein engineering to symmetrically and specifically cleave palindromic nucleotide sites in the DNA of interest.

Also: optimized type II palindromic restriction enzyme · precision palindromic type II bacterial endonuclease · genetically optimized palindromic restrictive nuclease

Genetically modified bacterial palindromic type II restriction endonuclease enzyme with high selectivity Protein designed through molecular engineering to make stable double-strand cuts exclusively in palindromic sites, reducing non-specific digestion.

Also: high specificity restriction enzyme · high selectivity modified palindromic type II bacterial endonuclease · high selectivity palindromic restriction nuclease

Molecular epigenetics Study of covalent modifications of DNA and associated proteins that alter gene expression without modifying the underlying nucleotide sequence.

Also: cellular epigenomics · non-genomic regulation of expression · molecular epigenetic marks

Cell lineage epigenome Configuration of stable epigenetic marks and chromatin modifications that dictate the transcriptional profile of a differentiated cell type.

Also: differentiated tissue epigenome · epigenetic pattern of cell lineage · cell-specific epigenomic map

Differentiated somatic cell lineage epigenome of restricted functional gene expression Complete map of epigenetic marks and histone modifications that permanently silences unnecessary genes regulating somatic cell identity.

Also: mature lineage-restricted epigenome · restricted functional epigenetic pattern · stable epigenetic marks of somatic cell identity

Differentiated somatic cell lineage epigenome of restricted gene expression Epigenetic profile characterized by repressive chemical marks that guarantee the stable silencing of unnecessary genes for the final tissue.

Also: lineage-restricted epigenome · pattern of final somatic lineage epigenetic marks · stable differentiated epigenomic map

Mature differentiated somatic cell lineage epigenome Comprehensive profile of chemical modifications of DNA and histones that restricts expression to specific genes of the final somatic lineage.

Also: differentiated somatic epigenome · mature lineage epigenetic map · stable somatic cell epigenomic marks

Epistasia Gene interaction in which the effect of an allele or variant of a specific gene hides, inhibits or alters the phenotypic manifestation of an independent gene.

Also: intergenic epistatic interaction · gene masking of loci · intergenic epistasis

Recessive intergenic duplication epistasis Interaction between multiple duplicated genes in which the homozygous recessive state for any of them completely nullifies the manifestation of the phenotype.

Also: complementary duplication epistasis · recessive duplicity interaction · intergenic recessive double masking

Dominant intergenic duplication epistasis Regulatory interaction in which the presence of a single dominant allele in any of the two duplicated and independent genes completely expresses the trait of interest.

Also: dominant complementary duplication epistasis · dominant duplication interaction · complementary intergenic dominant masking

Double dominant epistasis of intergenic duplication Gene interaction in which the presence of a dominant allele in any of two duplicated genes at independent loci encodes the same phenotype.

Also: dominant cumulative duplication epistasis · dominant duplicity interaction of loci · intergenic double dominant masking

Modifying epistasis Intergenic interaction by which the presence of specific variants in a modifier gene notably alters the expressivity of a target gene.

Also: trait-modifying epistasis · loci modifier masking · modulatory gene interaction

Epistasia modifying clinical expressiveness trait Intergenic interaction where a modifying gene modulates the severity of the symptoms manifested by a primary pathogenic gene in the patient.

Also: clinical modulating epistasis · clinical modifier masking · gene interaction modulating expressivity

Mass spectrometry Physical instrumental analysis technique that determines with high specificity the molecular weight of proteins or peptides by precisely measuring the mass-charge relationship.

Also: peptide mass spectrometry · macromolecular spectrometric characterization · MS analysis

Major spliceosome Macromolecular nuclear ribonucleoprotein complex that precisely processes and eliminates the vast majority of conventional nuclear introns that begin with GT-AG sequences.

Also: standard spliceosome · majority splicing machinery · major splicing complex

Conventionally spliced eukaryotic nuclear major spliceosome Ribonucleoprotein complex assembled in the eukaryotic nucleus that sequentially eliminates introns from standard GT-AG consensus ends.

Also: eukaryotic major spliceosome spliceosome · nuclear conventional junction complex · major eukaryotic splicing machinery

Minor spliceosome Specialized variant of the pre-messenger RNA splicing complex that is responsible for processing a reduced group of introns with AT-AC consensus ends.

Also: minor spliceosome U12 · specialized minor junction complex · U12 splicing machinery

Quaternary structure of proteins Spatial organization and interaction of multiple independent polypeptide subunits that assemble to form a functional protein complex.

Also: multimeric protein structure · assembly of protein subunits · multiprotein complex conformation

Primary structure of proteins Ordered and specific linear sequence of amino acids linked by peptide bonds that defines the chemical identity of a protein.

Also: linear amino acid sequence · primary peptide sequence · linear polypeptide skeleton

Secondary structure of proteins Local three-dimensional configuration adopted by segments of the peptide chain stabilized by hydrogen bonds, such as alpha helices and beta sheets.

Also: local protein conformation · regular three-dimensional peptide structure · secondary folding of polypeptides

Tertiary structure of proteins Complete and stable three-dimensional folding of an individual polypeptide chain that determines its native conformation and biological activity.

Also: native three-dimensional structure · globular conformation of polypeptide · tertiary protein folding

Euchromatin Decondensed fraction of cellular nuclear chromatin that is associated with permissive epigenetic modifications and extremely high levels of transcription of genetic material.

Also: active chromatin · euchromatic cellular fraction · permissive chromosome zone

Variable expressiveness Rank, severity or clinical intensity of phenotypic clinical manifestations observed between different individuals who share the same pathogenic genetic variant.

Also: variable clinical severity · differential trait expressivity · individual phenotypic variability

Severe intrafamilial variable expressivity and clinical worsening Manifestation of symptoms and clinical severity of the same pathogenic genetic variant that is extraordinarily diverse and aggravated among related members of a pedigree.

Also: familiar expressiveness of progressive worsening · severe variability in pedigree · severe intrafamilial differential clinical expressivity

Transcription factor Protein specialized in genetic regulation that selectively binds to cellular DNA promoter sequences, stimulating or inhibiting transcription.

Also: eukaryotic transcription regulator · DNA promoter binding protein · specific transcriptional activator

General transcriptional factor of eukaryotic preinitiation Regulatory protein required for the formation of the basal transcriptional complex and correct anchoring of eukaryotic RNA polymerase II.

Also: general transcription preinitiation factor · transcript preinitiation regulatory protein · eukaryotic basal transcriptional factor

G1 cell growth phase Metabolic period of the cell cycle prior to DNA replication characterized by intense protein synthesis and organelle growth.

Also: G1 interface phase · growth phase prior to synthesis · pre-replicative cell period

G2 cell growth phase Eukaryotic cell control and preparation interval after DNA synthesis in which the cell synthesizes regulatory mitotic proteins.

Also: G2 interface phase · mitotic preparation phase · post-replicative cell period

Synthesis phase of the cell cycle Specific interval of the eukaryotic cellular interface in which the cell carries out absolute replication and duplication of its nuclear genomic material.

Also: S phase of the cell cycle · DNA duplication period · cellular replicative synthesis

Mitotic phase of the cell cycle Period of eukaryotic cell division that includes the segregation of homologous chromatids and mitotic nuclear division and cytoplasmic division.

Also: M phase of the cell cycle · mitotic divisional period · active cell mitosis

Phylogeny Biological and historical study that reconstructs the evolutionary kinship pattern and the lines of ancestral descent of species on Earth.

Also: biological evolutionary tree · evolutionary genealogy of species · molecular phylogeny

Gene flow Exchange of genetic variants between different populations of the same species due to migration events of individuals with reproductive success.

Also: population allele migration · intergroup allele flow · migratory genomic exchange

Recombination fraction Statistical parameter used to evaluate genetic linkage by estimating the probability that a physical crossing occurs between two loci.

Also: chromosomal recombination rate · frequency of meiotic crossing over · recombinant fraction value

Okazaki Fragment Short segment of single-stranded DNA synthesized discontinuously on the lagging strand of replication that is subsequently sealed enzymatically by the ligase.

Also: Okazaki segment · Okazaki discontinuous chain · piece of Okazaki's DNA

Polymorphic constraint fragment DNA segment of variable length produced by restriction enzyme digestion due to polymorphic sequence variations in the population.

Also: RFLP · variable size constraint fragment · cut fragment length polymorphism

Allele frequency Quantitative proportion that a given allele represents in relation to the set of all alleles that make up a locus in the studied population.

Also: population allelic abundance · allele frequency in community · distribution of genetic alleles

Recombination frequency Proportion of recombinant gametes produced during the meiosis process that measures the closeness and physical linkage between two chromosomal loci.

Also: genetic recombination fraction · meiotic recombination rate · probability of marker recombination

Meiotic recombination frequency of polymorphic linkage markers Statistical measure of meiotic physical crossing over used to indirectly estimate the actual linear distance between multiple chromosomal loci.

Also: marker recombination fraction · crossover rate of polymorphic markers · probability of recombination of contiguous markers

Meiotic recombination frequency of polymorphic markers of physical linkage Statistical parameter of meiotic physical crossings used to make genetic maps by estimating the relative linear distance of genes.

Also: meiotic recombination fraction of physical markers · crossover rate of linkage markers · probability of recombination of physical chromosomal markers

Meiotic recombination frequency of high-resolution physical linkage polymorphic markers Statistical parameter calculated to determine the physical linkage distance between multiple contiguous polymorphisms mapped on a chromosome fragment.

Also: high resolution physical recombination fraction · crossover rate of high resolution physical markers · probability of recombination of contiguous physical chromosomal markers

Frequency of meiotic recombination due to chromosomal crossing over Parameter that quantifies the percentage of recombinant meiotic products that measures the real linear distance between multiple genetic loci.

Also: meiotic recombination fraction · probability of chromosomal crossing over · frequency of meiotic recombination of markers

Frequency of meiotic recombination due to homologous chromosome crossing over Measure that quantifies the linear genetic distance between chromosomal markers, estimating the probability that a meiotic physical crossing will occur.

Also: frequency of meiotic homologous crossing over · homologous chromosome meiotic recombination rate · homologous meiotic crossing over fraction

Genotypic frequency Relative proportion that represents a specific genotype within the set of total allelic combinations observed in the study of a population.

Also: population genotypic distribution · allelic combination abundance · frequency of community genotypes

Centric fusion of chromosomes Physical union of two non-homologous acrocentric chromosomes that fuse at the level of their centromeric region, losing their short satellite arms.

Also: centric fusion translocation · centromeric fusion rearrangement

Functional haploinsufficiency Pathological situation characterized by the fact that a single functional copy of a gene does not produce a sufficient amount of normal protein.

Also: pathological molecular haploinsufficiency · single allele dose deficiency · simple functional copy insufficiency

Functional haploinsufficiency due to reading pattern variant Severe loss of protein function in which the insertion or deletion of nucleotides truncates the protein, reducing its functional physiological dose by half.

Also: haploinsufficiency due to frameshift · gene dose deficiency due to phase shift · pathogenic haploinsufficiency due to a change in regimen

Functional haploinsufficiency due to microinsertion reading pattern variant Loss of gene function characterized by cellular degradation of aberrant messenger RNA due to the introduction of a premature stop codon.

Also: haploinsufficiency due to insertion frameshift · gene dose deficiency due to microinsertion · haploinsufficiency due to reading terminator variant

Functional haploinsufficiency due to pathogenic microinsertion reading pattern variant Reduction in physiological gene dosage due to NMD-mediated cellular degradation of the transcript containing a premature stop codon.

Also: haploinsufficiency due to pathogenic insertion frameshift · functional dose deficiency due to microinsertion · haploinsufficiency due to insertion read terminator variant

Functional haploinsufficiency due to reading pattern variant due to pathogenic microinsertion in heterozygosity Clinical situation where the inheritance of a variant due to a mismatch in a single allele of a critical gene triggers serious clinical manifestations due to insufficient protein doses.

Also: heterozygous frameshift haploinsufficiency · insertional heterozygous dose functional deficiency · clinical haploinsufficiency due to heterozygous pattern change

Haplosufficiency Genomic situation in which the presence of a single functional and healthy allele in a state of heterozygosity is enough to guarantee the normal phenotype.

Also: single allelic sufficiency · single gene copy sufficiency · molecular haplosufficiency

High cohesion polymorphic nucleotide linkage genetic haplotype Linear combination of contiguous point nucleotide variants on a strand of chromosomal DNA that are inherited in a joint and coordinated manner.

Also: high cohesion haplotypic block · high cohesion molecular haplotype · linear polymorphic nucleotide haplotype

High meiotic cohesion polymorphic nucleotide linkage genetic haplotype Block of single nucleotide variants located contiguously on a chromosome that does not stably undergo meiotic recombination.

Also: haplotypic block of high meiotic cohesion · high meiotic cohesion molecular haplotype · linear nucleotide haplotype stable in meiosis

Pedigree high meiotic cohesion polymorphic nucleotide linkage genetic haplotype Block of point genetic variants located contiguously that are transmitted cohesively through generations in a family without undergoing recombination.

Also: pedigree haplotype block · high meiotic cohesion pedigree molecular haplotype · familial linear nucleotide haplotype free of recombination

Recombination molecular haplotype Physical block of single nucleotide variants located adjacently on a chromosomal strand that are inherited in an integrated and cohesive manner.

Also: linkage haplotype · chromosomal haplotypic block · cohesive molecular haplotype

Meiotic recombination molecular haplotype due to linkage disequilibrium Contiguous physical block of polymorphisms that is transmitted cohesively across generations due to the local absence of crossing-over.

Also: population linkage haplotype · meiotic haplotype linkage block · meiotic cohesive molecular haplotype

Conductive strand Template DNA strand that is copied and synthesized continuously and in a direction identical to the global advancement of the cellular replication fork.

Also: replication leader chain · continuous strand of DNA · leading strand

Lagging strand DNA chain whose synthesis occurs discontinuously using small fragments due to the obligatory antiparallel orientation of the polymerases.

Also: replication delayed chain · discontinuous strand of DNA · lagging strand

Hemizygosity Genetic condition in which an organism has only one allele of a given gene due to the structural or physical absence of its homologous pair.

Also: hemizygous state · single allele endowment · genetic hemyzygosity

Gonosomal hemizygosity of the male X chromosome Condition characterized by the fact that the human male has only a single physical copy of all the genes on the X chromosome, lacking a homologous chromosomal counterpart.

Also: hemyzygosity of male X · endowment of male sexual pair · hemizygous state of sexual pair

Herability Statistical estimate that quantifies what proportion of the variability of a complex trait in a population is due to heredity and genomic variability.

Also: heritability · genetic variance coefficient · population hereditary influence index

Mitochondrial inheritance Exclusive transmission of the extranuclear genetic material contained in the mitochondria through the maternal cytoplasmic route to all of the individual's biological offspring.

Also: maternal inheritance of mitochondrial DNA · maternal mitochondrial transmission · mitochondrial extrachromosomal inheritance

Multifactorial inheritance Transmission pattern in which the phenotype and susceptibility to diseases result from the coordinated effect of multiple genetic factors and the interaction of the environment.

Also: complex polygenic inheritance · multifactorial etiology · polygenic transmission of traits

Compound heterozygosity Genetic and clinical situation characterized by the presence of two different and independent pathogenic variants in both corresponding alleles of a single gene.

Also: double heterozygous in a gene · heterozygous trans variants · compound heterozygous state

Recessive compound heterozygosity Heritability of two different pathogenic variants in each allele of the same gene that results in the development of an autosomal recessive disease.

Also: recessive compound heterozygous · trans compound heterozygous pathogenic state · double recessive inter-allele variant

Heterochromatin Region of densely compacted nuclear chromatin that remains inactive for the transcription process and is associated with long-lasting gene repression.

Also: silenced chromatin · nuclear heterochromatic fraction · inaccessible chromosome area

Constitutive heterochromatin Highly repetitive and permanently condensed DNA segments typically located in centromeres and telomeres that perform essential structural and chromosome stability functions.

Also: chromatin permanently silenced · structural heterochromatin · Dense repetitive DNA

Facultative heterochromatin Condensed chromosomal regions that harbor temporarily silenced sequences that can be reversed and expressed according to the differentiation needs of the cell lineage.

Also: dynamic heterochromatin · transiently silenced chromatin · adjustable chromatin zone

Heteroplasmy Dynamic coexistence of a heterogeneous mixture of healthy mitochondrial DNA molecules and with pathogenic variants within the same organelle, cell or biological tissue.

Also: mitochondrial DNA mosaicism · cellular mitochondrial heteroplasmy · mixture of mitochondrial genomes

Cellular mitochondrial heteroplasmy due to pathogenic variant Coexistence of normal and mutated mitochondrial genomes within the cellular cytoplasm of an individual affected by a mitochondrial disease.

Also: cellular mitochondrial mosaicism due to mutation · pathogenic cellular heteroplasmic load · cellular mitochondrial genomic variation

Clinical mitochondrial heteroplasmy Clinical situation characterized by the coexistence of a variable load of pathogenic mitochondrial DNA that determines the severity of the symptoms.

Also: clinical pathological heteroplasmy · mitochondrial mutational load · clinical mitochondrial DNA mosaicism

Nucleic acid hybridization Specific union mediated by hydrogen bonds of two complementary single strands of DNA or RNA to form a stable double-stranded molecule in vitro.

Also: complementary base pairing · molecular hybridization of nucleic acids · selective strand reassociation

Comparative genomic hybridization on oligonucleotide arrays High-density molecular karyotyping platform designed to analyze submicroscopic gains or losses of doses of chromosome material on a large scale.

Also: high density CGH array · oligonucleotide dose molecular microarray · comparative genomic hybridization microarray

Knudson hypothesis Recessive oncogenesis model that postulates that the loss or sequential inactivation of both alleles of a tumor suppressor gene is required to trigger cancer.

Also: double whammy theory · Knudson double allelic inactivation · oncogenic double hit mutational model

Histone Small, basic, and highly evolutionarily conserved nuclear protein that plays a fundamental role in the coordinated packaging and regulation of nuclear deoxyribonucleic acid.

Also: nucleosomal packaging protein · nuclear structural histone · nucleosome organizer

Connecting histone H1 Nuclear protein responsible for sealing the genetic material at the entry and exit point of the nucleosome, facilitating the tight assembly of the thirty-nanometer chromatin fiber.

Also: binding histone H1 · histone binding · histone linker protein H1

Homoplasmy Condition characterized by the presence of a homogeneous and uniform population of mitochondrial DNA molecules with identical sequences within the eukaryotic cell.

Also: genomic mitochondrial homogeneity · mitochondrial homoplasmic state · mitochondrial DNA uniformity

Cellular mitochondrial homoplasmy Nuclear condition consisting of all of the mitochondrial organelles of a cell carrying identical sequences of mitochondrial genetic material.

Also: homogeneity of cellular mitochondrial DNA · cellular homoplasmic state · intracellular mitochondrial uniformity

Replication Fork Asymmetric hairpin-shaped structure that is generated by the separation of the strands of the DNA double helix, facilitating the synthesis activity of polymerases.

Also: replicative fork · DNA replication fork · active replication zone

DNA fingerprint Unique molecular profile that characterizes the genome of an individual based on the amplification of multiple high-resolution polymorphic microsatellites.

Also: individual DNA typing · forensic genetic profile · molecular genetic fingerprint

Genomic imprinting Regulatory epigenetic phenomenon by which the expression of an allele or chromosomal region is exclusively conditioned by its parental transmission origin.

Also: epigenetic marking of parental origin · genomic imprinting · allele-specific asymmetric expression

Random inactivation of the X chromosome Biological process in female mammals in which one of the two X chromosomes is epigenetically and permanently silenced during the early phases of embryonic development.

Also: random X lyonization · random somatic X muting · random shutdown of the X chromosome

Epigenetic inactivation of imprinting inheritance of maternal origin Silencing of the expression of the maternal allele of a gene through specific DNA methylations established during the process of female meiosis.

Also: maternal allele imprinting · coordinated maternal epigenetic inactivation · genomic marking of maternal origin

Epigenetic inactivation of imprinting inheritance of paternal origin Selective transcriptional silencing of the copy of a gene of paternal origin coordinated by chromatin modifications in the sperm gamete.

Also: paternal imprinting of allele · coordinated paternal epigenetic inactivation · genomic marking of paternal origin

Epigenetic inactivation of maternal imprinting inheritance of autosomal locus Silencing of the expression of the maternal allele of an autosomal gene through coordinated methylations established during the course of oocyte meiosis.

Also: maternal imprinting of autosomal gene · maternal autosomal epigenetic inactivation · marked autosomal maternal origin of locus

Epigenetic inactivation of maternal imprinting inheritance of adjustable autosomal locus Silencing of the allele of maternal origin through stable chemical marks whose reversal occurs only during the female gametogenesis of the offspring.

Also: maternal imprinting of adjustable autosomal locus · regulated maternal autosomal epigenetic inactivation · regulatable autosomal maternal genomic marking

Epigenetic inactivation of maternal imprinting inheritance of lineage-regulatable autosomal locus Reversible silencing of the expression of the maternal copy of a tissue-specific expression gene that is restored in female germinal development.

Also: lineage-adjustable maternal imprinting · tissue-regulated autosomal maternal epigenetic inactivation · autosomal maternal genomic cell lineage marking

Epigenetic inactivation of locus-specific maternal imprinting inheritance Silencing of the expression of the maternal allele of a gene by adding localized methylations stably established in the egg.

Also: specific locus maternal imprinting · directed maternal epigenetic locus inactivation · specific gene maternal origin marking

Epigenetic inactivation of paternal imprinting inheritance of autosomal locus Silencing of the expression of the paternal allele of an autosomal gene regulated by selective chromatin methylations established in the male gamete.

Also: paternal imprinting of autosomal gene · paternal autosomal epigenetic inactivation · marked autosomal paternal origin of locus

Epigenetic inactivation of paternal imprinting inheritance of adjustable autosomal locus Silencing of the paternal allele through reversible DNA methylations that are specifically restored in the sperm gamete of the organism.

Also: paternal imprinting of adjustable autosomal locus · regulated paternal autosomal epigenetic inactivation · regulatable autosomal paternal genomic marking

Epigenetic inactivation of paternal imprinting inheritance of lineage-regulatable autosomal locus Specific silencing of the paternal allele through stable methylations that are erased and restored in a coordinated manner during the life cycle of the male germ cells.

Also: adjustable paternal lineage imprint · tissue-regulated autosomal paternal epigenetic inactivation · autosomal paternal genomic marking of cell lineage

Epigenetic inactivation of locus-specific paternal imprinting inheritance Silencing of the expression of the gene copy of paternal origin mediated by selective methylations coordinated during male gametogenesis.

Also: specific locus paternal imprinting · paternally directed epigenetic inactivation of locus · specific gene paternal origin marking

Epigenetic inactivation of specific maternal inheritance Selective transcriptional silencing of the maternal allele of a gene through the addition of specific methyl groups carried out during the oocyte gametogenesis of the organism.

Also: maternal epigenetic imprinting · inactivation of maternal origin of locus · maternal epigenetic marking of gene

Epigenetic inactivation of specific paternal inheritance Specific repression and silencing marking of the paternal allele of a gene coordinated by specific chemical and histone modifications during male spermatogenesis.

Also: paternal epigenetic imprinting · inactivation of paternal origin of locus · paternal epigenetic marking of gene

Microsatellite instability Molecular alteration characterized by hypermutability and abnormal length changes in tandem repeat sequences of DNA due to failure of repair.

Also: MSI · sequence repetition instability · molecular fragility of microsatellites

Self-processing intron Intronic RNA sequence capable of catalyzing by itself its own cutting and release of the precursor transcript in the absolute absence of accessory proteins.

Also: catalytic intron · Self-splicing RNA · auto-splicing intron

Paracentric fragment inversion Change in the orientation of a segment of a chromosome arm that does not compromise the centromere, keeping the ends of the centromere unchanged.

Also: paracentric chromosome inversion · rotation of chromosome arm fragment · paracentric structural inversion

Pericentric fragment inversion One hundred and eighty degree rotation of a chromosomal DNA fragment that centrally includes the chromosomal centromere, modifying the length of the arms.

Also: chromosomal pericentric inversion · rotation of fragment with centromere · pericentric structural inversion

Paracentric inversion Structural variation in which the rotation of one hundred and eighty degrees of a chromosomal DNA fragment located exclusively in one arm occurs without compromising the centromere.

Also: chromosomal inversion without centromere · paracentric rotational rearrangement · chromosome arm rotation

Paracentric inversion of human autosomal chromosome fragment Balanced asymmetric structural rearrangement in which a segment of one arm of a human autosomal chromosome is inverted without altering the centromere.

Also: human autosomal paracentric inversion · fragment rotation without autosomal centromere · paracentric autosomal rearrangement

Pericentric inversion Characteristic structural rearrangement in which a chromosome segment that includes the centromeric region breaks, rotates one hundred and eighty degrees, and reinserts.

Also: chromosomal inversion with centromere · pericentric rotational rearrangement · centromeric fragment rotation

Pericentric inversion of human autosomal chromosome fragment Balanced structural rearrangement that involves the breakage of a segment that contains the centromere and its reinsertion rotated one hundred and eighty degrees.

Also: human autosomal pericentric inversion · fragment rotation with autosomal centromere · pericentric autosomal rearrangement

Pericentric inversion of mitotic sex chromosome fragment Balanced structural rearrangement of the X or Y chromosome that includes the centromere and permanently alters its banded structure.

Also: pericentric inversion of sexual torque · centromeric rotation of sex chromosome · mitotic gonosomal pericentric rearrangement

CpG Islands Regions rich in adjacent cytosine and guanine dinucleotides commonly located in the promoters of human genes that participate in the regulation of gene expression.

Also: CpG dinucleotide regions · DNA methylation islands · regulatory CpG groupings

CpG islands regulating promoters of inducible expression genes Clusters of CpG dinucleotides whose dynamic methylation and demethylation govern the fine transcriptional shutdown or activation of inducible genes.

Also: CpG islands of inducible promoters · CpG dinucleotides expression regulators · regulatable promoter CpG zones

Isochromosome Structurally abnormal and symmetrical chromosome that presents mirror duplication of one of its arms accompanied by the total deletion of its opposite arm.

Also: abnormal symmetrical chromosome · chromosomal arm duplication-deletion · mitotic isochromosome

Human autosomal chromosome short arm isochromosome p Asymmetric structural chromosomal alteration characterized by mirror duplication of its short arm p with concomitant absolute deletion of its long arm q.

Also: human autosomal p isochromosome · autosomal duplicate p-arm anomaly · human p-symmetric autosomal chromosome

Human autosomal chromosome short arm isochromosome p mitotic clonal Symmetric autosomal chromosome originating from somatic cells characterized by a mirror duplication of its short arm p with complete deletion of its long arm q.

Also: clonal mitotic p isochromosome · clonal p symmetrical autosomal chromosome · autosomal p-arm anomaly of clonal mitosis

Human autosomal chromosome short arm isochromosome p mitotic clonal stable Abnormal autosomal clonally formed chromosome that has a mirror duplication of its short p arm while preserving mitotic structural stability.

Also: stable clonal mitotic isochromosome p · autosomal symmetric chromosome p mitotic clonal · autosomal clonal p-arm anomaly of mitosis

Human autosomal chromosome short arm isochromosome p mitotic clonal stable low frequency Symmetric autosomal chromosome that presents a mirror duplication of the p arm detectable by molecular cytogenetics in a somatic minority cell clone.

Also: low mitotic clonal frequency isochromosome p · low frequency mitotic p symmetrical autosomal chromosome · autosomal p-arm mitotic clonal anomaly

Autosomal p chromosome short arm isochromosome Abnormal autosomal chromosome that presents the total deletion of its long arm q combined with a complete mirror duplication of its short arm p.

Also: autosomal isochromosome p · symmetric autosomal chromosome p · duplicated p autosomal chromosome abnormality

Human autosomal chromosomal long arm isochromosome q Symmetrical chromosomal aberration resulting from an erroneous transverse division of the centromere that mirror duplicates the long q arm of a human autosomal chromosome.

Also: human autosomal q isochromosome · autosomal duplicate q-arm anomaly · human q-symmetric autosomal chromosome

Human autosomal chromosome long arm isochromosome q mitotic clonal Symmetric autosomal chromosome formed in somatic cells by a mitotic divisional error that presents a stable mirror duplication of the long arm q.

Also: isochromosome q mitotic clonal · autosomal symmetric chromosome q clonal · autosomal q-arm anomaly of clonal mitosis

Human autosomal chromosomal long arm isochromosome q mitotic clonal stable Symmetric autosomal chromosome arising in somatic mitosis that presents a permanent mirror duplication of its long q arm in the mitotic lineage.

Also: stable clonal mitotic isochromosome q · chromosome autosomal symmetric q mitotic clonal · autosomal clonal mitosis q arm anomaly

Human autosomal chromosomal long arm isochromosome q low frequency stable clonal mitotic Symmetric autosomal structural abnormality observable in a small percentage of the patient's cells indicative of acquired mitotic rearrangements.

Also: low mitotic clonal frequency isochromosome q · low frequency mitotic q symmetric autosomal chromosome · autosomal q-arm mitotic clonal anomaly

Autosomal q chromosomal long arm isochromosome Structurally abnormal and symmetrical autosomal chromosome formed by the mirror duplication of its q arm with the consequent complete deletion of its short p arm.

Also: autosomal q isochromosome · symmetrical autosomal chromosome q · duplicated q autosomal chromosome abnormality

Symmetrical isochromosome Abnormal structural chromosome that has a mirror duplicate symmetry of identical chromosome arms whether both p or both q.

Also: arm symmetrical isochromosome · specular duplication chromosome anomaly · perfect chromosomal isochromosome

Symmetric short arm autosomal p mitotic isochromosome Abnormal structural chromosome formed in somatic cells by transverse mitotic division that presents the short duplicated p arm and absence of the q.

Also: mitotic autosomal isochromosome p · symmetric autosomal chromosome p of mitosis · mitotic autosomal chromosome abnormality p

Autosomal q mitotic long arm symmetrical isochromosome Aberrant autosomal mirror chromosome caused by a divisional error of the centromere during somatic cell mitosis that duplicates the long q arm.

Also: mitotic autosomal q isochromosome · q-symmetric autosomal chromosome of mitosis · mitotic autosomal chromosome abnormality q

Symmetric long arm q isochromosome of male sex chromosome Structural anomaly of the Y chromosome characterized by mirror duplication of its long q arm with complete deletion of the p arm information.

Also: male Yq isochromosome · symmetric long arm anomaly of sex chromosome · isochromosome q of male sex chromosome

Symmetric q long arm isochromosome of mitotic sex chromosome Structural aberration of the male sex chromosome that presents mirror duplication of its long q arm and complete loss of its short p arm.

Also: mitotic Yq isochromosome · long arm anomaly of mitotic sex chromosome · symmetrical sex chromosome Yq

Knockin Animal model or genetically modified cell line in which a specific DNA sequence or a point mutation is precisely introduced into a target locus.

Also: targeted gene insertion model · precision knockin mouse · site-specific gene insertion

Knockout Genetically modified organism through genomic engineering in which the expression of one or more specific genes has been permanently and absolutely inactivated.

Also: total gene inactivation model · knockout mouse · targeted gene suppression model

Nuclear lamina Filamentous network of structural proteins lamins located on the inner face of the karyotheque envelope that provides mechanical support and organizes the chromatin domains of the cell.

Also: caryoteca laminar matrix · internal nuclear fibrous mesh · core structural support

Synthetic lethality Cellular phenomenon in which the loss of function of any two independent genes is compatible with cell viability, but their simultaneous loss results in cell death.

Also: combined cell lethality · coordinated synthetic death · synthetic cell inviability

Hardy-Weinberg Law Mathematical equation of population genetics that describes that allele frequencies remain stable under an ideal population equilibrium.

Also: Hardy-Weinberg equilibrium · principle of allele frequency distribution · population genetics equation

Physical chromosomal linkage Coexistence of multiple genetic loci located on the same chromosomal strand that are inherited together due to their high linear physical proximity.

Also: strict physical binding · gene linkage in chromosome · physical co-segregation of loci

Genetic linkage Tendency of certain genes located physically contiguously on the same chromosome to segregate together and avoid recombination during cellular meiosis.

Also: physical linkage of loci · chromosomal co-inheritance · linkage of adjacent genes

Quantitative locus Chromosomal region that contains one or more genes that contribute to cumulatively regulate a phenotypic trait of continuous variation.

Also: QTL · quantitative trait locus · genetic locus of continuous variation

Complex trait locus Region of the nuclear genome involved in the multifactorial determination of complex quantitative characters that do not show a Mendelian inheritance pattern.

Also: Complex QTL · multifactorial trait locus · locus of variation of quantitative characters

Susceptibility locus for complex quantitative traits Genomic region of non-Mendelian inheritance characterized by harboring genes that collectively modulate and determine susceptibility to complex diseases.

Also: Complex susceptibility QTL · complex character locus · genomic region associated with quantitative trait

Specific gene locus Exact and constant physical position that a given gene sequence occupies within a strand of eukaryotic or prokaryotic chromosomal DNA.

Also: specific molecular locus · chromosomal location site · gene physical position

Genomic physical map Detailed representation that describes the exact physical distance measured in base pairs that separates multiple genes on a chromosome.

Also: chromosomal physical map · distance map in base pairs · physical mapping of the genome

DNA methylation Covalent chemical addition of a methyl group to the fifth carbon of cytosine that acts epigenetically, inhibiting stable gene transcription.

Also: epigenetic cytosine methylation · DNA methylated labeling · modification by genomic methylation

Maintenance methyltransferase Enzyme that recognizes hemimethylation sites in replicated DNA to add methyl groups identically to the newly synthesized chain, preserving the epigenetic imprint.

Also: DNMT maintenance · Conservative DNA methyltransferase · methylation maintaining enzyme

De novo methyltransferase Enzyme that catalyzes the initial addition of methyl groups to previously unmethylated cytosine residues, allowing the establishment of new epigenetic patterns during differentiation.

Also: De novo DNMT · De novo DNA methyltransferase · de novo methylating enzyme

DNA microarray Miniaturized solid support containing thousands of fixed microscopic DNA probes of known sequence to competitively hybridize nucleic acid samples.

Also: DNA genomic chip · microarray array hybridization · DNA microarray

Genomic hybridization microarray Advanced molecular platform that performs high-resolution comparative hybridization to accurately detect microdeletions and duplications in the nuclear genome.

Also: array CGH · comparative genomic microarray · chromosomal dose molecular chip

Microdeletion Loss of an extremely small and submicroscopic fragment of chromosomal genetic material that is not detectable in conventional cytogenetic karyotypes.

Also: submicroscopic scale deletion · contiguous gene microdeletion syndrome · submicroscopic segmental loss

Submicroscopic chromosomal microdeletion Loss of a small contiguous chromosomal DNA fragment that cannot be visualized with conventional light microscopy in a conventional karyotype.

Also: submicroscopic chromosome loss · submicroscopic microdeletion · submicroscopic locus deletion

Submicroscopic chromosomal microdeletion of adjacent genes Loss of an extremely small chromosomal DNA fragment that involves multiple contiguous genes not detectable by conventional karyotypes.

Also: submicroscopic microdeletion of adjacent genes · submicroscopic segmental loss of contiguous loci · submicroscopic contiguous gene deletion syndrome

Submicroscopic chromosomal microdeletion of distal regulatory region Loss of an extremely small DNA fragment containing distal enhancers altering normal gene expression without affecting the coding sequence.

Also: distal enhancer microdeletion · submicroscopic loss of distal regulatory sequence · submicroscopic segmental deletion of enhancer

Microsatellite Short nucleotide sequence repeated in tandem consecutively that shows high hereditary variability serving as a forensic genetic marker.

Also: STR · short tandem repeat of DNA · polymorphic microsatellite sequence

Minisatellite Tandem repeat sequence of intermediate length between ten and one hundred base pairs very prone to structural variations used in family analyses.

Also: VNTR · variable number tandem repeat · minisatellite length polymorphism

Monosomy Numerical chromosomal alteration characterized by the absolute loss of one of the copies belonging to a normal diploid pair of homologous chromosomes.

Also: chromosomal homolog deficiency · complete pair monosomy · numerical chromosome loss

Autosome monosomy Pathological condition of generalized embryonic lethality characterized by the absolute loss of one of the chromosome copies of a human autosomal pair.

Also: complete autosomal monosomy · diploid autosome deficiency · total autosomal loss

Mutation by replicative sliding of microsatellites (Wait, I must avoid "Mutation". Let's use: Expansion by replicative sliding of microsatellites Error in cellular replication of tandemly repeated DNA sequences due to polymerase slippage that expands the size of the microsatellite.

Also: polymerase sliding in microsatellites · replicative expansion by sliding · tandem replicative glide)

Retroviral insertion biological mutagen Recombinant retrovirus capable of integrating randomly into the nucleotide sequence of the target cell's genome, altering its reading frame.

Also: mutagenic insertion virus · insertional mutagenic retroviral agent · viral genotoxic insertion inducer

Nitrogen-based mutagen Chemical substance with reactive properties capable of modifying the structure or substituents of a nitrogenous base, altering its replicative properties.

Also: chemical base mutagen · molecular base modifier · genotoxic nucleotide chemical

Double-stranded monofunctional alkylating chemical mutagen Genotoxic compound with a single reactive functional group that covalently binds to nitrogenous bases, inducing transitions and transmutations during cell replication.

Also: monofunctional alkylating agent · monofocinal alkylating genotoxic compound · simple alkylating mutagenic reagent

Chemical mutagen with monofunctional double-helix alkylating action Reactive compound with high affinity for nitrogenous bases that covalently transfers simple alkyl groups, destabilizing the replicative pairing of DNA.

Also: monofunctional double helix alkylating agent · simple alkylation genotoxic compound · double helix monofunctional mutagenic reagent

Chemical mutagen with deaminating action of purine bases Chemical compound that catalyzes the removal of amino groups from adenine or guanine, inducing systematic replicative pairing errors.

Also: purine deamination agent · purine deaminating mutagenic compound · genotoxic base deaminating reagent

Chemical mutagen of analogous nitrogenous bases Substance with a chemical structure extremely similar to that of physiological nitrogenous bases that is mistakenly incorporated into replicating DNA, promoting base transitions.

Also: mutagenic base analogue · genotoxic chemical with analogous bases · mutagenic nucleotide analogue compound

Meiotic nondisjunction Error during the course of meiotic germinal divisions in which a pair of homologous chromosomes or sister chromatids fail to separate correctly.

Also: incorrect disjunction in gametogenesis · meiotic segregation failure · nondisjunction in meiosis

Meiotic nondisjunction I Failure in the process of separation of homologous chromosomes belonging to a diploid couple that occurs in the first division of meiosis.

Also: incorrect homolog disjunction · nondisjunction in meiosis I · meiotic incorrect segregation one

Meiotic nondisjunction II Segregation failure in which sister chromatids remain attached incorrectly, migrating together towards the same pole in the second meiosis.

Also: incorrect chromatid disjunction · nondisjunction in meiosis II · meiotic incorrect segregation two

Mitotic nondisjunction Error in the symmetrical separation of sister chromatids during mitotic anaphase that causes somatic tissue mosaicism in the individual.

Also: mitotic disjunction failure · somatic anomalous segregation · incorrect separation in cell mitosis

Nucleosome Repetitive and fundamental structural unit of chromatin made up of a DNA fragment of one hundred and forty-seven base pairs wound around an octamer of histone proteins.

Also: chromatin pearl · nucleosomal DNA and histone complex · genomic packaging unit

Structured prokaryotic nuclear chromatin nucleosome Histone-like bacterial proteins that orderly wrap circular DNA forming a compact structure analogous to the nucleosome.

Also: bacterial nucleosome analogue · bacterial compaction pearl · DNA complex and histone-like proteins

Oncogenesis Dynamic and sequential process of accumulation of genetic variants and epigenomic modifications that progressively transform a normal cell into a cancerous cell.

Also: cellular tumorigenesis · molecular carcinogenesis · malignant cellular transformation

Bacterial operon Functional transcription unit common in prokaryotes that groups a set of structural genes coordinatedly regulated under the control of a single common promoter.

Also: prokaryotic operon · bacterial coordinated gene block · bacterial transcription unit

Replication origin Specific consensus nucleotide sequence of the nuclear or mitochondrial genome where the synthesis and replication of cellular DNA begins in a coordinated manner.

Also: origin site · replication initiation sequence · locus of origin of duplication

Loss of heterozygosity Genomic phenomenon that occurs when a tumor cell loses the remaining functional allele of a tumor suppressor gene, favoring oncogenesis.

Also: LOH · loss of the residual wild allele · deletion of the remaining functional allele

Pyrosequencing Quantitative DNA sequencing by synthesis method that detects the release of inorganic pyrophosphate through the coordinated emission of enzymatic light.

Also: pyrophosphate light emission sequencing · quantitative pyrosequencing · high resolution pyrosequencing

Protein folding Cellular biophysical process of thermodynamics by which a linear polypeptide spontaneously or assisted acquires its biologically active three-dimensional structure.

Also: three-dimensional protein folding · native protein conformation · acquisition of tertiary structure

Active three-dimensional conformation cooperative protein folding Physical phenomenon that leads to the acquisition of the native helical and folded three-dimensional structure essential for cellular protein functioning.

Also: native protein folding · cooperative active three-dimensional shaping · cooperative acquisition of protein tertiary structure

Pleiotropy Biological phenomenon in which a single pathogenic genetic variant triggers clinical manifestations and phenotypic influences in multiple systems or organs of the body.

Also: systemic variability per single gene · pleiotropic manifestations · multidirectional gene effects

Molecular gene pleiotropy Molecular mechanism by which the peptide product of a single gene intervenes independently in multiple cellular metabolic cascades.

Also: molecular pathway pleiotropy · biochemical pleiotropic effects · single gene polypeptide multitasking

Single nucleotide polymorphism Genetic variation of a single nucleotide base at a specific genomic position that occurs in a population proportion of at least one percent.

Also: SNP · single nucleotide variant · punctual nucleotide polymorphism

Transitional single nucleotide polymorphism Genomic variation in a specific nucleotide position where the polymorphism involves the substitution of one purine for another purine in a conservative manner.

Also: Transitional SNP · transitional point polymorphism · transitional single nucleotide variant

Polyploidy Numerical chromosomal anomaly characterized by the presence of three or more haploid complete sets of chromosomes in the nucleus of human somatic cells.

Also: aberrant polyploid genome · systemic genomic polyploidy · aberrant multiple chromosome set

Human spontaneous polyploidy Anomaly in the provision of complete sets of chromosomes of a sporadic nature that occasionally arises in human embryos, compromising their biological viability.

Also: spontaneous de novo polyploidy · sporadic gain of full haploid complement · sporadic polyploid genomic alteration

Human spontaneous polyploidy of origin due to failure of meiotic division Massive numerical chromosomal aberration generated by the lack of extrusion of polar bodies or division of gametes that generates inviability.

Also: polyploidy due to meiotic failure · triploidy due to failure of de novo meiotic division · sporadic polyploid gain due to meiotic error

Human spontaneous polyploidy of de novo reproductive origin Sporadic anomaly characterized by the accidental acquisition of complete chromosome sets due to polyspermy that compromises the embryo.

Also: de novo reproductive polyploidy · accidental reproductive gain of chromosome endowments · human de novo polyploid numerical alteration

Polyribosome Active macromolecular structure made up of multiple ribosomes that simultaneously and successively translate a single molecule of messenger RNA.

Also: polysome · multiribosomal complex · ribosomal translational aggregation

Transcriptional enhancer DNA regulatory sequence that exponentially increases the transcription of the target gene regardless of its orientation or physical distance from the promoter.

Also: transcriptional enhancer · expression activating sequence · transcription stimulator element

Long-range transcriptional enhancer genomic regulator Distant DNA regulatory element that forms long-range three-dimensional chromatin loops to interact directly with the basal gene promoter.

Also: long range distal enhancer · long-range genomic enhancer · long range distant activating regulator element

Long-range transcriptional enhancer eukaryotic genomic regulator Distant non-coding element of eukaryotic DNA that interacts through the formation of three-dimensional chromatin loops with its basal gene promoter.

Also: long-range eukaryotic distal enhancer · eukaryotic long-range genomic enhancer · eukaryotic distant transcriptional activator element

Eukaryotic distal transcriptional enhancer of coordinated long-range expression regulation Remote non-coding sequence that dynamically interacts with basal promoters through the three-dimensional conformation of chromatin, regulating transcription.

Also: distal enhancer of eukaryotic coordinated expression · eukaryotic long-range enhancer of coordinated expression · eukaryotic coordinated distant transcriptional activator element

Eukaryotic distal transcriptional enhancer of long-range regulation DNA sequence away from the gene that dynamically regulates its expression by forming a physical loop with the basal proximal promoter region.

Also: eukaryotic distal enhancer · eukaryotic long-range genomic enhancer · eukaryotic distal transcriptional regulator

Eukaryotic distal transcriptional enhancer of coordinated long-range regulation Distant DNA element that interacts physically and in a regulated manner with multiple transcriptional factors coordinating the transcription of a gene.

Also: distal enhancer of coordinated regulation · coordinated eukaryotic long-range genomic enhancer · coordinated distant transcriptional activator element

Proximal gene promoter DNA segment located immediately upstream of the transcription start site that recruits basal transcription factors and RNA polymerase.

Also: proximal basal promoter · close promoter sequence · contiguous transcription initiator region

Cellular proteasome Cylindrical macromolecular multiprotein complex responsible for selectively degrading proteins damaged or marked with ubiquitin chains within the eukaryotic cell.

Also: proteasomal recycling complex · protein degradation proteasome · cellular proteolytic chamber

Argonaut Protein Fundamental endonucleolytic catalytic component of the RISC complex that cleaves the complementary messenger RNA strand during transcript silencing.

Also: RISC catalytic protein · Argonaute endonuclease · jamming argonaut

Single chain binding protein Cellular protein responsible for cooperatively binding single-stranded DNA during replication to prevent its spontaneous reassociation and protect it from cytoplasmic nucleases.

Also: SSB protein · single-stranded binding protein · protective of single-stranded DNA

Eukaryotic single-chain binding protein Eukaryotic protein that stabilizes the single-stranded DNA of the replication bubble, preventing nuclease digestion and reassociation.

Also: RPA · eukaryotic single-strand binding protein · replicative protein A

Active mitotic cyclin-dependent protein kinase Heterodimeric complex of cyclin B and CDK1 that coordinately phosphorylates multiple nuclear structural proteins, triggering the initiation of eukaryotic mitosis.

Also: mitotic kinase-cyclin complex · mitotic induction motor · Active mitotic CDK

Microtubule tethering checkpoint Mitotic cellular safety mechanism that temporarily stops anaphase until the attachment of microtubules to all kinetochores is verified.

Also: mitotic spindle checkpoint · cell segregation quality control · metaphasic checkpoint

DNA Damage Checkpoint Molecular cellular safety mechanism that temporarily or permanently stops the cell cycle if breaks or genomic structural alterations are detected.

Also: genomic damage checkpoint · DNA cellular quality control · nucleic stability checkpoint

Cyclin-dependent kinase Regulatory phosphorylating enzyme that is activated by uniting with its corresponding cyclin to coordinate the passage of the cell to the next phase.

Also: CDK · kinase regulating cell progression · cyclin-dependent mitotic kinase

Homologous recombination of mitotic sister chromatids Occasional physical phenomenon of reciprocal and high-precision crossing over that occurs between identical chromatids during mitotic cell division.

Also: mitotic crossing over of sister chromatids · mitotic crossing-over of homologs · mitotic chromatid recombination

Homologous recombination of non-sister chromatids in prophasic meiosis Physical exchange of genetic material that occurs reciprocally between chromatids of maternal and paternal origin during meiotic crossing-over.

Also: reciprocal meiotic crossing over of homologs · crossing-over of meiotic non-sister chromatids · physical exchange of chromatids in meiosis I

Molecular clock Evolutionary method that estimates the time elapsed since the divergence of species assuming a constant and regular accumulation of genomic variants.

Also: evolutionary genetic stopwatch · regular mutation rate · evolutionary molecular clock

Repair wrong pairings High-precision post-replication system that scans the double strand of DNA to correct incorrect base pairings and nucleotide slip loops.

Also: MMR · base mismatch repair · post-replicative mismatch repair

Base excision repair Cellular mechanism responsible for identifying and replacing damaged or chemically modified nitrogenous bases using specific DNA glycosylases and polymerases.

Also: BER · single base repair path · enzymatic cleavage of damaged base

Nucleotide excision repair Genomic repair pathway specialized in recognizing and correcting extensive physical distortions of the double helix commonly induced by ultraviolet radiation.

Also: NER · propeller distortion repair · repair of cyclobutane dimers

Retrotransposon Transposable element that is mobilized to new genomic locations by synthesizing an RNA intermediate and being reverse transcribed by reverse transcriptase.

Also: RNA-mediated mobile element · class I transposon · replicative retrotransposon

Catalytic cellular ribozyme Endogenous RNA molecule that catalyzes specific biochemical reactions of breaking or synthesis of nucleic bonds in the absence of enzymes of protein origin.

Also: Endogenous catalytic RNA · cellular enzymatic ribozyme · eukaryotic RNA biocatalyst

Whole exome sequencing Massive sequencing strategy that selectively selects and analyzes all of the coding regions or exons of a patient's genome.

Also: WES · massive sequencing of total exons · precision exomic reading

Whole genome sequencing Advanced genomic procedure that exhaustively determines the exact nucleotide sequence of all the coding and non-coding regions of an organism.

Also: WGS · whole genome genotyping · whole genome reading

Single molecule sequencing Third generation technology that allows direct sequencing of individual DNA or RNA molecules in real time without the need for amplification.

Also: third generation sequencing · direct reading of single DNA molecule · real-time single-molecule sequencing

Third-generation real-time single-molecule sequencing Advanced technology that records the fluorescent incorporation of individual nitrogenous bases into individual DNA polymers continuously and without amplification.

Also: SMRT sequencing · real-time single molecule reading · third generation massive real-time sequencing

Single molecule sequencing in real time without the need for amplification Advanced method that directly analyzes nucleotides in individual DNA polymers, minimizing biases induced by PCR.

Also: single molecule direct sequencing · 3rd generation real-time reading without PCR · sequencing of individual DNA polymers

Next generation sequencing Automated, high-performance molecular technologies that allow parallel and simultaneous reading of millions of genomic DNA fragments.

Also: NGS · massively parallel sequencing · massive high-throughput DNA reading · high-throughput sequencing

Sanger sequencing First generation technique based on the controlled in vitro interruption of the synthesis of DNA chains using labeled dideoxynucleoside nucleotides.

Also: Sanger enzymatic sequencing method · capillary sequencing by chain termination · dideoxy method

Massively parallel sequencing by synthesis of fluorescently labeled nucleotides NGS technology that determines sequences by reading the color emission of each nucleotide actively incorporated into the strand being synthesized.

Also: massive fluorescent sequencing NGS · parallel reading by fluorescent synthesis · base sequencing by massive fluorescent labeling

Massively parallel sequencing by synthesis of labeled nucleotides High-throughput technology that performs sequential readings by incorporating deoxyribonucleotides labeled with specific fluorophores detected by optical sensors.

Also: massive sequencing by fluorescent synthesis · NGS reading by synthesis · parallel sequencing of fluorescent bases

Massively parallel sequencing by oligonucleotide synthesis and detection of fluorescent nucleotides High-throughput NGS technology that performs sequential reads through the incorporation and optical detection of complementary labeled nitrogenous bases.

Also: massive sequencing by fluorescent synthesis NGS · massive parallel fluorescent base reading · fluorescent complementary sequencing by synthesis

Ligation sequencing Massive sequencing strategy that uses the enzymatic fidelity of a DNA ligase to identify nucleotides through hybridization of fluorescent oligonucleotide probes.

Also: ligation sequencing method · ligase-catalyzed massive sequencing · molecular reading by enzymatic ligation

Sequencing by synthesis High-throughput molecular method in which nucleotides incorporated into a growing chain emit a detectable signal in real time.

Also: massive sequencing by synthesis · synthesis method for NGS · massive reading by adding bases

Inherited polymorphic variable length constraint segment DNA fragment of specific inherited size that varies between different individuals in a pedigree due to polymorphisms that eliminate a cut site.

Also: inherited RFLP allele · inheritable polymorphic constraint fragment · hereditary restriction fragment polymorphism

Mendelian segregation Disjunction and equal distribution of the alleles corresponding to a gene during gametic meiotic prophase and anaphase, so that each gamete inherits a single allele.

Also: Mendel's second law of inheritance · law of segregation of hereditary factors · meiotic allelic disjunction

Natural selection Evolutionary biological process that differentially favors the survival and reproductive success of individuals carrying advantageous phenotypes and adapted to their environment.

Also: environmental selective pressure · differential adaptive reproduction · biological adaptive fitness

Cellular senescence Irreversible arrest of the cell's divisional cycle that occurs as a cellular safety response to genomic damage or critical telomere shortening.

Also: cellular proliferative aging · irreversible cycle stop · cellular senescent arrest

Cellular apoptotic signaling mediated by death receptors Proteolytic cascade initiated by the interaction of extracellular ligands with specific membrane receptors TNF-R or Fas that activates precursor caspases.

Also: extrinsic death receptor pathway · extrinsic membrane apoptosis · cell death receptor signaling

Cell death signaling by coordinated activation of effector caspases Sequential proteolysis processing where effector enzymes hydrolyze structural components culminating in the destructuring of cell apoptosis.

Also: terminal cascade of effector caspases · apoptotic execution signaling · final apoptotic proteolysis

Cell death signaling by coordinated proteolytic activation of apoptotic execution caspases Degradation cascade of nuclear and cytoskeletal substrates carried out by effector caspases activated by partial proteolysis to complete apoptosis.

Also: activation of effector caspases by proteolysis · final apoptotic signaling mediated by caspases · apoptotic proteolysis of caspase execution

Cell death signaling by coordinated proteolytic activation of regulated cellular apoptotic execution caspases Final enzymatic cascade that degrades key structural proteins to complete the nuclear and cellular fragmentation characteristic of programmed cell death.

Also: coordinated final activation of effector caspases · apoptotic signaling of caspases

Cell death signaling by proteolytic activation of execution caspases Ordered processing where the initiator caspases activate the terminal effector caspases through partial hydrolysis to execute apoptosis.

Also: activation cascade of effector caspases · final apoptotic proteolytic signaling · activation of terminal execution caspases

Cell death signaling by caspases Coordinated proteolytic cascade initiated by initiator caspases that hydrolyzes essential cellular structural proteins to culminate cellular apoptosis.

Also: caspase cascade · proteolytic pathway of apoptosis · caspase execution pathway

Transcriptional silencer Non-coding element of genomic DNA that selectively and potently represses the transcription of a specific gene by binding repressor proteins.

Also: transcriptional silencer · expression inhibitory sequence · genomic silencing element

Gene silencing Molecular or epigenetic mechanism involved in drastically reducing or completely turning off the expression and translation of the transcript of a given gene.

Also: suppression of gene expression · targeted genetic shutdown · deactivation of transcript translation

Site A of the ribosome Functional region of the ribosomal complex that receives and introduces the aminoacyl-transfer RNA that carries the next amino acid to be incorporated.

Also: aminoacyl site of the ribosome · ribosomal acceptor site · peptide entry site

Palindromic restriction site Short double-stranded nucleotide sequence that displays bidirectional symmetry and is specifically recognized by endonucleases for precise enzymatic cleavage.

Also: restriction palindrome · palindromic restriction target · DNA palindromic cleavage site

E site of the ribosome Ribosomal site from which the transfer RNA is expelled once it has given up its amino acid to the elongating peptide chain.

Also: ribosome exit site · exit ribosomal site · tRNA deacylation site

P site of the ribosome Ribosome domain that retains the peptidyl-transfer RNA that holds the growing polypeptide chain together during translation.

Also: peptidyl site of the ribosome · polypeptide elongation site · ribosomal donor site

Alternative splicing Molecular genomic mechanism that selectively processes the exons of pre-messenger RNA to generate multiple different protein isoforms from a single gene.

Also: RNA alternative splicing · differential transcript processing · selective splicing

Stable organ-specific constitutive alternative splicing Invariably regulated exon splicing processing variant that generates a characteristic and functional protein isoform in a given organ.

Also: alternative splicing of constituent body · stable organ transcript processing · regular organ tissue splicing

Tissue-specific constitutive alternative splicing Coordinated exon splicing variant that is invariably expressed in a specific cell or tissue type guaranteeing its normal functional identity.

Also: regular alternative fabric splicing · exonic processing of constituent tissue · stable tissue differential splicing

Stress-inducible stable tissue-specific constitutive alternative splicing Differential processing of pre-messenger RNA exons whose splicing rate varies regularly in response to environmental stress stimuli.

Also: stress-inducible tissue splicing · stable stress exonic processing · tissue splicing sensitive to environmental stress

Stable tissue-specific constitutive alternative splicing inducible by chemical signals Differential processing of pre-messenger RNA exons whose splicing efficiency is regularly modulated by cell signaling ligands.

Also: tissue splicing inducible by chemical signals · signaling tissue exonic processing · ligand-sensitive constitutive tissue splicing

Stable tissue-specific constitutive alternative splicing inducible by chemical stress signals Exonic processing of cellular pre-messenger RNA whose efficiency and splicing rate vary regularly in the face of cellular oxidative or thermal stress signals.

Also: chemical stress-inducible tissue splicing · exonic processing of chemical stress · constitutive tissue splicing sensitive to chemical stress signals

Constitutive alternative splicing of specific tissue stable adjustable Differential splicing processing that generates a characteristic and functional protein isoform invariably expressed in a tissue lineage.

Also: regular constituent tissue splicing · inducible stable tissue exon processing · tissue-specific alternative splicing

Constitutive alternative splicing of specific stable hormonally regulated tissue Differential processing of exons whose splicing rate varies physiologically and regularly in response to hormonal signals.

Also: constitutive inducible tissue splicing · hormone-regulated stable tissue exonic processing · hormone-sensitive tissue splicing

Constitutive splicing Regular cellular splicing process in which all exons of a primary pre-messenger RNA transcript are joined together in sequential order without exclusions.

Also: regular exon splicing · constitutive processing of RNA · standard linear splicing

Telomerase Ribonucleoprotein enzyme with reverse transcriptase activity responsible for synthesizing telomeric repeats at the chromosome ends to prevent progressive cellular shortening.

Also: Telomeric DNA polymerase · end extension ribonucleoprotein · telomere transcriptase

Telomere Nucleoprotein structure located at the terminal ends of eukaryotic chromosomes that protects the genome against enzymatic degradation and anomalous structural fusions.

Also: protective chromosome end · terminal telomere · DNA protective cap

Gene therapy Clinical treatment strategy that uses the transfer of corrective genetic material to replace, inactivate or restore the expression of defective genes in patients.

Also: therapeutic transfer of genetic material · clinical genetic correction · genomic therapeutic approach

Direct gene therapy located in parenchymal tissue Focused administration of genetic vectors that carry therapeutic genes locally directly into the tissue of a target organ without massive systemic distribution.

Also: tissue focal gene therapy · direct parenchymal gene transfer · localized administration in tissue tissue

Ex vivo gene therapy directed on autologous stem cells Corrective genetic modification of the patient's own stem cells previously collected for subsequent reimplantation and stable grafting in vivo.

Also: ex vivo autologous gene therapy · ex vivo stem cell correction · ex vivo progenitor stem cell therapy

Ex vivo gene therapy directed at bone marrow stem cells Corrective genetic modification of hematopoietic stem cells performed in vitro for subsequent stable reparative autotransplantation in the affected patient.

Also: ex vivo bone marrow hematopoietic gene therapy · ex vivo correction of bone progenitor cells · targeted ex vivo bone marrow therapy

Ex vivo gene therapy directed at hematopoietic bone marrow progenitor cells Genetic modification carried out in vitro on blood progenitor cells for subsequent bone marrow grafting in a stable and curative manner.

Also: targeted ex vivo bone marrow hematopoietic gene therapy · ex vivo correction of hematopoietic progenitor cells · ex vivo targeted bone marrow therapy

Ex vivo gene therapy directed at hematopoietic bone marrow progenitor cells using viral vectors Genetic correction of hematopoietic progenitor cells performed in vitro using modified lentiviral vectors in a safe and integrative manner for autotransplantation.

Also: vector-mediated ex vivo hematopoietic gene therapy · ex vivo correction of progenitor cells by lentivirus · ex vivo bone marrow therapy by viral transduction

Ex vivo gene therapy directed at blood progenitor cells Genetic correction performed in vitro on the patient's hematopoietic progenitor cells to stably restore immune function.

Also: ex vivo hematopoietic gene therapy · ex vivo correction of blood stem cells · ex vivo targeted hematopoietic therapy

Tetraploidy Pathological presence of four identical haploid chromosome sets in the cells of the organism, adding up to a total of ninety-two chromosomes in the human species.

Also: genomic tetraploidism · 4n chromosome endowment · aberrant human tetraploidy

Topoisomerase I Enzyme that relieves the supercoiling of the DNA double helix by performing a reversible cut in a single strand of the nucleic acid without requiring the energy expenditure of ATP.

Also: Single-stranded DNA topoisomerase · monofilament gyrase · single-strand cleavage enzyme

Topoisomerase II Enzymatic protein that catalyzes the breakage and subsequent reversible sealing of both strands of the DNA double helix with the expenditure of ATP to untangle complex chromosomal knots.

Also: Double-stranded topoisomerase DNA · bifilament gyrase · double-strand cutting enzyme

Eukaryotic topoisomerase II Eukaryotic nuclear enzyme that performs transient double-strand cuts with ATP consumption to solve chromosome supercoiling and intertwining problems.

Also: Eukaryotic topoisomerase II DNA · eukaryotic double-stranded gyrase · chromosomal decatenase

Primary transcript Immature RNA molecule synthesized directly from the DNA template that alternately contains both coding sequences and intronic regulatory sequences.

Also: pre-messenger RNA · nuclear initial transcript · pre-RNA

Integrative lentiviral transduction of stable expression Irreversible and coordinated integration of a therapeutic gene within transcriptionally active genomic areas of the host facilitated by recombinant lentiviral vectors.

Also: stable lentiviral transduction · lentiviral genomic integration · permanent gene transfer by lentivirus

Stable retroviral transduction by targeted genomic integration Irreversible insertion of a gene of interest into the host's DNA mediated by recombinant retroviral vectors modified for stable expression.

Also: integrative retroviral transduction · stable retroviral gene transfer · retroviral integrated gene insertion

Viral transduction Process of transfer and delivery of genetic material of interest into the eukaryotic cell interior using the infective machinery of a modified viral vector.

Also: virus-mediated gene transfer · viral transductive infection · gene insertion by viral particles

Transfection Biological or chemical process of introducing purified exogenous nucleic acids into eukaryotic animal cells using methods not mediated by viral vectors.

Also: non-viral cellular gene introduction · macromolecular chemical transfection · laboratory gene transfer

Bacterial transformation Gene transfer mechanism by which a competent bacteria directly captures free DNA contained in its surrounding environment and integrates it.

Also: uptake of environmental free DNA · transformation of competent bacteria · bacterial direct gene transfer

Transgenesis Advanced biotechnological procedure that consists of transferring an exogenous gene manipulated in vitro to the genome of an organism to modify its characteristics in a hereditary way.

Also: transgenic gene transfer · artificial transgene insertion · genomic modification by transgenesis

Advanced precision transgenesis Biotechnological genetic modification aimed at inserting in a highly controlled manner an exogenous transgene into a genomic locus of stable and predictable expression.

Also: targeted precision transgenesis · controlled transgene insertion · targeted biotechnological gene modification

Biotechnological transgenesis Set of advanced molecular techniques to introduce, in an integrated and permanent manner, a useful transgene into the genome of viable host cells.

Also: biotechnological gene transfer · transgenesis engineering · biotechnological molecular modification

Non-reciprocal chromosomal translocation Asymmetric structural rearrangement in which a segment of a chromosome breaks and inserts into a non-homologous chromosome without mutual exchange.

Also: unidirectional insertion translocation · non-reciprocal translocation · asymmetric chromosome insertion

Reciprocal translocation Physical and reciprocal exchange of terminal acentric fragments of genomic material that occurs between two chromosomes that do not belong to the same homologous pair.

Also: reciprocal balanced translocation · reciprocal balanced rearrangement · exchange of non-homologous chromosome fragments

Robertsonian translocation Centromeric fusion that couples the long arms q of two non-homologous acrocentric chromosomes with the consequent loss of their short satellite arms.

Also: centric fusion of acrocentrics · balanced Robertsonian translocation · robertsonian chromosome fusion

Balanced Robertsonian translocation Asymptomatic chromosomal rearrangement in which the fusion of two acrocentric chromosomes does not clearly alter the genetic information content of the individual.

Also: healthy carrier of Robertsonian translocation · balanced acrocentric fusion

Transposon Mobile genomic segment capable of excision and translocation directly to a new chromosomal location in the genome of the same cell.

Also: mobile DNA element · jumping gene · cut and paste transposon

Triploidy Lethal or pathological cytogenetic condition consisting of the presence of three complete haploid sets adding up to a total of sixty-nine chromosomes in humans.

Also: genomic triploidism · 3n chromosome endowment · aberrant human triploidy

Triploidy of diginic maternal origin Anomalous triple chromosome endowment resulting from the fertilization of an abnormal diploid egg, due to the meiotic division not having been completed, by a normal sperm.

Also: diginal triploidy · maternal triploid fertilization · diginic maternal triple chromosome set

Triploidy of paternal dyspermatic origin Triple numerical chromosomal aberration that occurs due to the simultaneous fertilization of a haploid egg by two normal and independent haploid sperm.

Also: spermatic triploidy · paternal triploid fertilization · spermatic triple chromosome set

Cellular ubiquitination Enzymatic protein labeling process consisting of the covalent addition of residues of the ubiquitin protein to specific lysines of a protein to induce its degradation.

Also: ubiquitin labeling · protein degradation ubiquitination · ubiquitin conjugation

Uniformity of hybrids Principle that establishes that when crossing two individuals homozygous and pure for a specific trait, all their offspring from the first generation are uniform.

Also: Mendel's first law of inheritance · law of homogeneity of F1 hybrids · Mendelian principle of uniformity

First generation Mendelian genotypic uniformity Absolute homogeneity in the genotype of all F1 offspring resulting from crossing two purebred parents homozygous for a given trait.

Also: Mendelian F1 genotypic uniformity · genotypic homogeneity of first generation hybrids · Mendelian genotypic constancy

Single nucleotide variation Any change that involves the substitution of a nucleotide base in an exact position of the analyzed genomic DNA.

Also: point nucleotide variant · SNV · punctual change of nitrogenous base

Variation in the number of copies Segment of genomic DNA equal to or greater than one kilobase that is repeated, multiplied or absent among individuals in a population.

Also: CNV · DNA copy polymorphism · duplication-deletion structural variation

Copy number variation due to submicroscopic segmental deletion Type of structural alteration characterized by the physical loss of a genomic DNA fragment that alters the gene dosage of the genes involved.

Also: Deletion CNV · genomic submicroscopic segmental loss · variation of number of deleted copies

Acquired somatic clonal variant Permanent genomic change arising in a single non-reproductive cell that expands mitotically into a lineage of altered identical cells.

Also: clonal somatic mutation · mitotic acquired genetic alteration · mutated somatic clone

Pathogenic nucleotide microinsertion reading pattern variant Nucleotide alteration consisting of the addition of DNA bases not divisible by three that alters the translation framework of the protein, truncating it.

Also: frameshift by microinsertion · reading offset due to base addition · pathogenic insertion reading variant

Deleterious germline variant Molecular alteration with severe pathological effects transmitted through eggs or sperm that genetically predisposes to suffering from hereditary pathologies.

Also: hereditary pathogenic mutation · germinal deleterious variant · serious inherited genetic alteration

Germinal variant Structural or sequence alteration in the genome of a gamete that is hereditarily incorporated into all the cells of the offspring.

Also: germ line mutation · heritable genetic change · family nucleotide variant

Regulatory synonymous variant Nucleotide alteration that does not alter the peptide sequence but significantly affects the speed of translation or the correct folding of the protein.

Also: silent regulatory variant · synonymous regulatory nucleotide change · synonymous variant of molecular expression

Synonymous cellular regulatory variant Nucleotide change that does not alter the encoded amino acid but significantly modifies the secondary structure of the messenger RNA, affecting its cytoplasmic stability.

Also: synonymous regulatory variant · synonymous mutation with translation effect · nucleotide change of regulatory expression

Somatic variant Alteration in the DNA nucleotide sequence that occurs in any postzygotic somatic cell and is transmitted only to the cellular clone derived from it.

Also: acquired somatic mutation · clonal genetic change · mitotic molecular alteration

Plasmid cloning vector Genetically engineered bacterial extrachromosomal circular DNA molecule used to integrate, transport, and amplify an exogenous DNA fragment.

Also: recombinant cloning plasmid · plasmid gene carrier · plasmid insertion vector

Extrinsic apoptotic pathway Cell death cascade induced by the specific binding of death ligands to cellular membrane receptors that directly activate effector caspases.

Also: death receptor-mediated pathway · extrinsic signaling apoptosis · external cell death pathway

Intrinsic apoptotic pathway Cellular self-destruction mechanism regulated by mitochondria that is activated by internal signals of DNA damage or severe cellular stress.

Also: mitochondrial pathway of apoptosis · internal cellular self-destruction · cytochrome C-mediated intrinsic apoptotic pathway

Cellular mitochondrial intrinsic apoptotic pathway by release of factors Cascade initiated by nuclear or cytoplasmic signals of irreparable damage that triggers the mitochondrial exit of cytochrome C to induce apoptosis.

Also: mitochondrial pathway of apoptotic release · intrinsic cascade of mitochondrial factors · intrinsic mitochondria-mediated apoptosis

Cell intrinsic mitochondrial apoptotic pathway Internal regulatory cascade that triggers the permeabilization of the mitochondrial outer membrane and release of cytochrome C to induce apoptosis.

Also: mitochondrial intrinsic pathway · active mitochondrial self-destruction · internal mitochondrial apoptotic cascade

Cell intrinsic mitochondrial apoptotic pathway through membrane permeabilization Cascade that induces the cytoplasmic release of apoptogenic factors after altering the electrical potential of the mitochondrial outer membrane.

Also: intrinsic mitochondrial apoptosis due to permeabilization · Bcl-2-regulated mitochondrial pathway of death · apoptotic intrinsic mitochondrial cascade

Cell intrinsic mitochondrial apoptotic pathway by organelle outer membrane permeabilization Cell death cascade regulated by the balance of Bcl-2 proteins that releases proapoptotic mediators to the cytosol.

Also: mitochondrial apoptosis due to outer membrane permeabilization · intrinsic pathway of mitochondrial permeabilization · mitochondrial cascade due to alteration of membrane potential

Cell intrinsic mitochondrial apoptotic pathway by organelle outer membrane permeabilization mediated by Bcl-2 proteins Cascade that triggers the exit of cytochrome C to the cytosol after altering the integrity of the outer mitochondrial membrane regulated by the Bcl-2 balance.

Also: intrinsic mitochondrial apoptosis by permeabilizing Bcl-2 · mitochondrial pathway regulated by Bcl-2 cell death proteins · Bcl-2 intrinsic mitochondrial permeabilization cascade

Intrinsic mitochondrial apoptotic pathway mediated by proapoptotic proteins Regulatory cascade initiated by the activation of Bcl-2 family proteins that induces the cytoplasmic release of apoptogenic factors.

Also: intrinsic mitochondrial apoptosis by Bcl-2 · intrinsic pathway mediated by precursor caspases · proapoptotic mitochondrial activation by Bcl-2

Western blot Immunological analytical technique that uses gel electrophoresis and subsequent transfer to a nitrocellulose membrane to identify specific proteins using antibodies.

Also: protein immunoblot assay · protein detection by electrotransfer · Western immunoreactive assay

Molecular genetics

Other glossary specialties