EvidenceLib · Topic area
Genetics and Genomics
Inheritance, genetic variation, gene expression and genome technologies. 95 evidence-grounded articles.
3 A C D E F G I K L M N O P R S T U V X Y
3' Untranslated Regions
The sequence at the 3' end of messenger RNA that does not code for product.
Alleles
Variant forms of the same gene, occupying the same locus on homologous chromosomes, and governing the variants in production of the same gene product.
Amino Acid Substitution
The naturally occurring or experimentally induced replacement of one or more amino acids in a protein with another.
Anticodon
The sequential set of three nucleotides in transfer rna that interacts with its complement in messenger rna, the codon, during translation in the ribosome.
Catabolite Repression
Process by which micro-organisms adapt quickly to a preferred rapidly-metabolizable intermediate through the inhibition or repression of genes related to catabolism of less preferred source(s).
Centromere
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
Chromatids
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis.
Chromatin
The material of chromosomes.
Chromatin Immunoprecipitation
A technique for identifying specific DNA sequences that are bound, in vivo, to proteins of interest.
Chromosomes
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell.
Codon
A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (codon, terminator).
Codon Usage
The frequency of occurrence, in a specific organism's DNA sequence, of one of several potential synonymous codons that code for a particular amino acid.
Comet Assay
A genotoxicological technique for measuring DNA damage in an individual cell using single-cell gel electrophoresis.
Comparative Genomic Hybridization
A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences.
CRISPR-Cas Systems
Adaptive antiviral defense mechanisms, in archaea and bacteria, based on DNA repeat arrays called clustered regularly interspaced short palindromic repeats (crispr elements) that function in conjunction with crispr-associated prot
Cytogenetic Analysis
Examination of chromosomes to diagnose, classify, screen for, or manage genetic diseases and abnormalities.
DNA Adducts
The products of chemical reactions that result in the addition of extraneous chemical groups to DNA.
DNA Damage
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a mutation or a block of dna replication.
DNA Fingerprinting
A technique for identifying individuals of a species that is based on the uniqueness of their DNA sequence.
DNA Fragmentation
Splitting the DNA into shorter pieces by endonucleolytic dna cleavage at multiple sites.
Enzyme Induction
An increase in the rate of synthesis of an enzyme due to the presence of an inducer which acts to derepress the gene responsible for enzyme synthesis.
Epigenome
A network of chemical compounds surrounding DNA that modify the genome without altering the DNA sequences and have a role in determining which genes are active in a cell.
Euchromatin
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than heterochromatin.
Exome
That part of the genome that corresponds to the complete complement of exons of an organism or cell.
Exons
The parts of a transcript of a split GENE remaining after the introns are removed.
Expressed Sequence Tags
Partial cDNA (DNA, complementary) sequences that are unique to the cDNAs from which they were derived.
Founder Effect
A phenomenon that is observed when a small subgroup of a larger population establishes itself as a separate and isolated entity.
Gene Amplification
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes.
Gene Editing
Genetic engineering or molecular biology techniques that involve dna repair mechanisms for incorporating site-specific modifications into a cell's genome.
Gene Expression
The phenotypic manifestation of a gene or genes by the processes of genetic transcription and genetic translation.
Gene Expression Profiling
The determination of the pattern of genes expressed at the level of genetic transcription, under specific circumstances or in a specific cell.
Gene Expression Regulation
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Gene Flow
The change in gene frequency in a population due to migration of gametes or individuals (animal migration) across population barriers.
Gene Pool
The total genetic information possessed by the reproductive members of a population of sexually reproducing organisms.
Gene Rearrangement
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
Gene Regulatory Networks
Interacting DNA-encoded regulatory subsystems in the genome that coordinate input from activator and repressor transcription factors during development, cell differentiation, or in response to environmental cues.
Gene Targeting
The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled.
Genes
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Genetic Background
The entire genetic composition of a strain or individual that interacts with a gene of interest.
Genetic Code
The meaning ascribed to the base sequence with respect to how it is translated into amino acid sequence.
Genetic Engineering
Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc.
Genetic Loci
Specific regions that are mapped within a genome.
Genetic Profile
A set of characteristics unique to the DNA of an individual organism or population obtained by analyzing small samples of biological material such as body tissues or fluids, used especially in the context of predicting susceptibil
Genetic Risk Score
Estimate of an individual's genetic liability to a trait or disease, calculated according to their genotype profile and relevant genome-wide association study data.
Genetic Testing
Detection of a mutation; genotype; karyotype; or specific alleles associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants.
Genome
The genetic complement of an organism, including all of its genes, as represented in its DNA, or in some cases, its RNA.
Genome-Wide Association Study
An analysis comparing the allele frequencies of all available (or a whole genome representative set of) polymorphic markers to identify gene candidates or quantitative trait loci associated with a specific organism trait or specif
Genomic Imprinting
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the dna methylation pattern.
Genomic Library
A form of gene library containing the complete DNA sequences present in the genome of a given organism.
In Situ Hybridization
A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.
Introns
Sequences of DNA in the genes that are located between the exons.
Karyotype
The full set of chromosomes presented as a systematized array of metaphase chromosomes from a photomicrograph of a single cell nucleus arranged in pairs in descending order of size and according to the position of the centromere.
Kinetochores
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
Linkage Disequilibrium
Nonrandom association of linked genes.
Lod Score
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci.
Metabolic Engineering
Methods and techniques used to genetically modify cells' biosynthetic product output and develop conditions for growing the cells as bioreactors.
Molecular Typing
Using molecular biology techniques, such as dna sequence analysis; pulsed-field gel electrophoresis; and dna fingerprinting, to identify, classify, and compare organisms and their subtypes.
Multigene Family
A set of genes descended by duplication and variation from some ancestral gene.
Multilocus Sequence Typing
Direct nucleotide sequencing of gene fragments from multiple housekeeping genes for the purpose of phylogenetic analysis, organism identification, and typing of species, strain, serovar, or other distinguishable phylogenetic level
Multiplex Polymerase Chain Reaction
Methods for using more than one primer set in a polymerase chain reaction to amplify more than one segment of the target DNA sequence in a single reaction.
Mutation Rate
The number of mutations that occur in a specific sequence, GENE, or genome over a specified period of time such as years, cell divisions, or generations.
Nanopore Sequencing
A sequencing protocol that drives nucleic acids (DNA or RNA) in an electric field through nanopores allowing single molecule sequence analysis.
Nucleosomes
The repeating structural units of chromatin, each consisting of approximately 200 base pairs of DNA wound around a protein core.
Oncogenes
Genes whose gain-of-function alterations lead to neoplastic cell transformation.
Operon
In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic messenger rna is under the control of an operator region.
Optogenetics
The combination of genetic and optical methods in controlling specific events with temporal precision in targeted cells of a functioning intact biological system.
Pedigree
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Peptide Mapping
Analysis of peptides that are generated from the digestion or fragmentation of a protein or mixture of proteins, by electrophoresis; chromatography; or mass spectrometry.
Philadelphia Chromosome
An aberrant form of human chromosome 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11.
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers).
Protein Engineering
Procedures by which protein structure and function are changed or created in vitro by altering existing or synthesizing new structural genes that direct the synthesis of proteins with sought-after properties.
Proto-Oncogenes
Normal cellular genes homologous to viral oncogenes.
Pseudogenes
Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation.
Pyrimidine Dimers
Dimers found in DNA chains damaged by ultraviolet rays.
Reading Frames
The three possible sequences of codons by which genetic translation may occur from one nucleotide sequence.
Real-Time Polymerase Chain Reaction
Methods used for detecting the amplified DNA products from the polymerase chain reaction as they accumulate instead of at the end of the reaction.
Regulon
In eukaryotes, a genetic unit consisting of a noncontiguous group of genes under the control of a single regulator gene.
Replicon
Any DNA sequence capable of independent replication or a molecule that possesses a replication origin and which is therefore potentially capable of being replicated in a suitable cell.
Reproductive Isolation
Mechanisms that prevent different populations from exchanging genes (gene flow), resulting in or maintaining genetic speciation.
Reverse Genetics
The use of techniques that produce a functional mutation or an effect on gene expression of a specific gene of interest in order to identify the role or activity of the gene product of that gene.
Reverse Transcriptase Polymerase Chain Reaction
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription.
Ribotyping
Restriction fragment length polymorphism analysis of rRNA genes that is used for differentiating between species or strains.
RNA Interference
A gene silencing phenomenon whereby specific dsRNAs (RNA, double-stranded) trigger the degradation of homologous mRNA (RNA, messenger).
RNA-Seq
High-throughput nucleotide sequencing techniques developed for determining and analyzing the composition of the transcriptome of a sample.
Sequence Alignment
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties.
Sequence Analysis
A multistage process that includes the determination of a sequence (protein, carbohydrate, etc.), its fragmentation and analysis, and the interpretation of the resulting sequence information.
Sex Chromosomes
The homologous chromosomes that are dissimilar in the heterogametic sex.
Telomere
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability.
Transcription Initiation Site
The first nucleotide of a transcribed DNA sequence where RNA polymerase (dna-directed rna polymerase) begins synthesizing the RNA transcript.
Transfection
The uptake of naked or purified DNA by cells, usually meaning the process as it occurs in eukaryotic cells.
Untranslated Regions
The parts of the messenger RNA sequence that do not code for product, i.e.
V(D)J Recombination
The process by which the V (variable), D (diversity), and J (joining) segments of immunoglobulin genes or t-cell receptor genes are assembled during the development of lymphoid cells using nonhomologous dna end-joining.
X Chromosome
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
X Chromosome Inactivation
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X chromosome of the pair is repressed in the somatic cells of females.
Y Chromosome
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has b