CARTA Glossary
Word | Definition | Related Vocabulary |
---|---|---|
Adaptation |
Evolution of a phenotype by selection because it improved reproduction and/or survival. |
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Admixture |
Breeding between isolated populations. |
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Alignment |
Arranging related sequences by position. |
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Allele |
Alternative DNA sequence at the same locus (location on the chromosome) |
Chromosome, DNA sequence, Locus |
Archaic admixture |
DNA from ancient, divergent, and now extinct populations found in current people. |
Deoxyribonucleic acid (DNA) |
Atapuerca |
An archaeological site in Spain with fossils and stone tools of the earliest known hominins in Western Europe. |
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Chromatin |
A complex of DNA and proteins (histone and adaptor proteins) forming chromosomes. |
Chromosome, Deoxyribonucleic acid (DNA), Protein |
Chromosome |
Discrete strands of tightly packaged chromatin. |
Chromatin |
Cloning |
Making a copy of an organism or sequence. |
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Coalescence |
Time since common ancestor. |
Coalescent Theory |
Coalescent Theory |
Models evolution backward in time to infer historical population size, mutation rate, allele age, and allele frequency change by selection and drift. |
Coalescence |
Codon |
A sequence of three nucleotides along a DNA or RNA chain encoding a single amino acid, and start or stop. |
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Coverage |
The number of reads for a given locus. |
Sequencing |
CpG site |
Locus where a cytosine nucleotide is followed by guanine nucleotide in the linear sequence of bases. Cytosines in CpG dinucleotides can be methylated to form 5-methyl cytosine, a common epigenetic mark. |
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CRISPR |
Clustered regularly interspaced short palindromic repeats. A method that can mutate a specified locus. |
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Demography |
Study of population size over time. |
Population |
Dental Calculus |
Calcified dental plaque, provides information on diet, disease, health, microbiome and protects the genetic information within the tooth from degradation. |
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Deoxyribonucleic acid (DNA) |
The molecule of inheritance, which consists of sequences of the four nucleotide bases: Adenine, Thymine, Guanine, and Cytosine. |
Molecule, Nucleotide, Sequence |
Derived Alleles |
Variants arising since last common ancestor. |
Polymorphism |
Divergence |
Change in genetic content or phenotype between isolated populations or species. |
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Effective Population Size (Ne) |
The size of an idealized population (random mating, no selection, mutation or migration) with the same rate of genetic drift as the study population. |
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Enhancer |
Short region of DNA that can be bound by proteins to alter transcription of a gene. |
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Epigenetic |
Biological information not encoded directly in DNA. |
Deoxyribonucleic acid (DNA) |
Epigenome |
Molecular modifications of the DNA and its associated histone proteins, affecting its function. |
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Exon |
Sequences at a locus that encode parts of a protein. |
Introns, Locus, Protein |
Fixed Alleles |
Replaced all other alleles in a population. |
Polymorphism |
Functional DNA |
Encodes biological information. |
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Gene |
A DNA sequence which encodes a specific function. |
DNA sequence |
Gene Flow |
Movement of alleles between populations via mating. |
Allele |
Gene Regulation |
Alterations of gene expression/activity. |
IncRNA, microRNA (miRNA), RNA Binding Proteins (RBP), Transcription Factor Proteins |
Genetic Drift |
Change in allele frequencies, including fixation and loss, by chance. |
Allele |
Genome |
The totality of DNA in a cell. Also refers to the DNA sequence that typifies an individual or species. |
Deoxyribonucleic acid (DNA), DNA sequence, Species |
Genome Wide Association Study (GWAS) |
An approach for “gene mapping” in which hundreds of thousands of SNPs are tested statistically for genetic associations with a phenotype. |
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Genotype |
The two alleles at one or more diploid loci. |
Allele |
Genotyping |
Characterizing genetic variants at one or more loci. |
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Haplotype |
A set of alleles along neighboring positions on a chromosome that are inherited together. |
Allele, Chromosome |
Heterozygotes |
Have two different alleles at a locus. |
Allele |
Histones |
Chief protein components of chromatin and can be chemically modified as part of epigenetics. |
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Homo |
The genus that comprises the species Homo sapiens, as well as several extinct species classified as ancestral to, or closely related to, humans. |
Genus, Homo sapiens, Species |
Homo erectus |
An extinct hominin species with fossil evidence from at least 1.9 million years to 70 thousand years ago and found from Africa to Indonesia. H. erectus may have been the first hominin to leave Africa. H. erectus DNA may be retrievable from other species due to archaic admixture. |
Archaic admixture, Deoxyribonucleic acid (DNA), Hominin, Species |
Homology |
Similarity in DNA or phenotype because of shared evolutionary history from a common ancestor. |
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Homoplasy |
Similarity in DNA sequence or phenotype that has evolved independently. |
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IncRNA |
Long non-coding microRNA |
Gene Regulation |
Indel |
An insertion or deletion of a DNA sequence. |
DNA sequence, Mutation |
Introgression |
Transfer of alleles between species. |
Allele, Species |
Introns |
Sequences between eons, don't encode proteins |
Exon, Locus |
Karyotype |
Chromosome number in the cell nucleus. |
Diploid, Haploid |
Linkage Disequilibrium |
Non-random inheritance of alleles at different loci (due to low recombination). |
Recombination |
Locus |
A unique physical position on a chromosome. |
Chromosome |
microRNA (miRNA) |
A single-stranded non-coding RNA that silences RNA and is involved in post-transcriptional regulation of gene expression. |
Ribonucleic acid (RNA) |
Middle Pleistocene |
A period of geological time (781-126,000 years ago). An important time for the diversification of hominins, including the emergence of Neanderthals and Homo sapiens. |
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Morphology (Biology) |
The shape or form (outward appearance) of an organism. The branch of biology interested in the form and structure of organisms and their specific structural features. |
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Mutation |
Change in a DNA or RNA sequence. |
Deoxyribonucleic acid (DNA), Indel, Ribonucleic acid (RNA), Silent Mutations, Single Nucleotide Polymorphism (SNP), Synonymous/Non-synonymous Mutations |
Neanderthals |
An extinct Eurasian hominin species that existed from 500-30 kya and interbred with ancient humans and Denisovans. |
Denisovans, Hominin, Species |
Phenotype |
Observable traits of an organism that result from interactions between genes and environment during development. |
Gene |
Phylogeny |
Historical relationships of species or loci. |
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Polymerase chain reaction (PCR) |
A method of copying a specified locus. |
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Polymorphism |
The “many forms,” or genetic variants, of a single gene that exist and are maintained in a population at a frequency of 1% or higher. |
Gene, Variant |
Population |
A defined group of similar individuals among whom interbreeding occurs. |
Demography, Gene Flow |
Post-translation Modifications |
Alter mature protein. |
Gene |
Promotor |
Region of DNA that initiates transcription of a particular gene. |
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Recombination |
Exchanges between chromosomes that causes independent inheritance of alleles. |
Linkage Disequilibrium |
RNA Binding Proteins (RBP) |
Proteins that bind RNA |
Gene Regulation |
Selection |
Allele frequency change over time caused by the different replication rate of specific alleles. |
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Sequencing |
Reading the order of nucleotides in DNA. |
Coverage, Shotgun |
Shotgun |
Sequencing cuts the genome into short chunks that are read and reassembled by a computer. |
Sequencing |
Silent Mutations |
No change to the phenotype. |
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Species |
A population whose individuals can mate with one another to produce viable and fertile offspring. This is a debated definition and the concept is problematic for extinct fossil organisms for which DNA is not available. This definition is problematic in regard to bacteria as they can exchange genetic material across widely separate taxa. |
Bacteria, Deoxyribonucleic acid (DNA) |
Synonymous/Non-synonymous Mutations |
No change to the protein; changes to protein, respectively. |
Mutation |
Transcription |
The first step in gene expression during which the nucleotide sequence of DNA is transcribed into an RNA molecule that can ultimately be translated into protein. |
Deoxyribonucleic acid (DNA), Gene expression, Molecule, Nucleotide, Protein, Ribonucleic acid (RNA), Sequence |
Transcription Factor Proteins |
A protein that alters gene expression by binding directly or indirectly to DNA |
Gene Regulation |
Translation |
The process by which RNA sequences are translated to amino acid sequences during protein synthesis. |
Gene |
Transposable elements (TE) |
DNA sequence that can change its position within a genome, sometimes creating or reversing mutations and altering the cell’s genetic identity and genome size. They can also be referred to as “jumping genes”. They were discovered by Barbara McClintock and she earned the Nobel Prize in 1983 for that discovery. These sequences can be considered a type of “molecular parasite” within the genome. |
Deoxyribonucleic acid (DNA), Genome |
Variant |
DNA that differs among groups studied. |
Deoxyribonucleic acid (DNA) |
Vector |
DNA molecule used to direct the replication of a cloned DNA fragment (“insert”) in a host cell. |