CARTA Glossary

Displaying 1 - 75 of 75 defined words for "Ancient DNA and Human Evolution". To see all CARTA defined words, please view the complete glossary.

Word Definition Related Vocabulary
Adaptation

Evolution of a phenotype by selection because it improved reproduction and/or survival.

Admixture

Breeding between isolated populations.

Alignment

Arranging related sequences by position.

Allele

Alternative DNA sequence at the same locus (location on the chromosome)

Archaic admixture

DNA from ancient, divergent, and now extinct populations found in current people.

Atapuerca

An archaeological site in Spain with fossils and stone tools of the earliest known hominins in Western Europe.

Chromatin

A complex of DNA and proteins (histone and adaptor proteins) forming chromosomes.

Chromosome

Discrete strands of tightly packaged chromatin.

Cloning

Making a copy of an organism or sequence.
Organisms are cloned by moving an entire genome from a cell into an egg. DNA sequences are cloned by moving copies into a bacteria using a vector.

Coalescence

Time since common ancestor.

Coalescent Theory

Models evolution backward in time to infer historical population size, mutation rate, allele age, and allele frequency change by selection and drift.

Codon

A sequence of three nucleotides along a DNA or RNA chain encoding a single amino acid, and start or stop.

Coverage

The number of reads for a given locus.

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.

CRISPR

Clustered regularly interspaced short palindromic repeats. A method that can mutate a specified locus.

Demography

Study of population size over time.

Dental Calculus

Calcified dental plaque, provides information on diet, disease, health, microbiome and protects the genetic information within the tooth from degradation.

Deoxyribonucleic acid (DNA)

The molecule of inheritance, which consists of sequences of the four nucleotide bases: Adenine, Thymine, Guanine, and Cytosine.

Derived Alleles

Variants arising since last common ancestor.

Divergence

Change in genetic content or phenotype between isolated populations or species.

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.

Enhancer

Short region of DNA that can be bound by proteins to alter transcription of a gene.

Epigenetic

Biological information not encoded directly in DNA.

Epigenome

Molecular modifications of the DNA and its associated histone proteins, affecting its function.

Exon

Sequences at a locus that encode parts of a protein.

Fixed Alleles

Replaced all other alleles in a population.

Functional DNA

Encodes biological information.
~2% of all DNA: Codes for proteins.
~80% of all DNA: Regulates gene activity.

Gene

A DNA sequence which encodes a specific function.

Gene Flow

Movement of alleles between populations via mating.

Gene Regulation

Alterations of gene expression/activity.

Genetic Drift

Change in allele frequencies, including fixation and loss, by chance.

Genome

The totality of DNA in a cell. Also refers to the DNA sequence that typifies an individual or 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.

Genotype

The two alleles at one or more diploid loci.

Genotyping

Characterizing genetic variants at one or more loci.

Haplotype

A set of alleles along neighboring positions on a chromosome that are inherited together.

Heterozygotes

Have two different alleles at a locus.

Histones

Chief protein components of chromatin and can be chemically modified as part of epigenetics.

Homo

The genus that comprises the species Homo sapiens, as well as several extinct species classified as ancestral to, or closely related to, humans.

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.

Homology

Similarity in DNA or phenotype because of shared evolutionary history from a common ancestor.

Homoplasy

Similarity in DNA sequence or phenotype that has evolved independently.

IncRNA

Long non-coding microRNA

Indel

An insertion or deletion of a DNA sequence.

Introgression

Transfer of alleles between species.

Introns

Sequences between eons, don't encode proteins

Karyotype

Chromosome number in the cell nucleus.

Linkage Disequilibrium

Non-random inheritance of alleles at different loci (due to low recombination).

Locus

A unique physical position on a chromosome.

microRNA (miRNA)

A single-stranded non-coding RNA that silences RNA and is involved in post-transcriptional regulation of gene expression.

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.

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.

Mutation

Change in a DNA or RNA sequence.

Neanderthals

An extinct Eurasian hominin species that existed from 500-30 kya and interbred with ancient humans and Denisovans.

Phenotype

Observable traits of an organism that result from interactions between genes and environment during development.

Phylogeny

Historical relationships of species or loci.

Polymerase chain reaction (PCR)

A method of copying a specified locus.

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.

Population

A defined group of similar individuals among whom interbreeding occurs.

Post-translation Modifications

Alter mature protein.

Promotor

Region of DNA that initiates transcription of a particular gene.

Recombination

Exchanges between chromosomes that causes independent inheritance of alleles.

RNA Binding Proteins (RBP)

Proteins that bind RNA

Selection

Allele frequency change over time caused by the different replication rate of specific alleles.

Sequencing

Reading the order of nucleotides in DNA.

Shotgun

Sequencing cuts the genome into short chunks that are read and reassembled by a computer.

Silent Mutations

No change to the phenotype.

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.

Synonymous/Non-synonymous Mutations

No change to the protein; changes to protein, respectively.

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.

Transcription Factor Proteins

A protein that alters gene expression by binding directly or indirectly to DNA

Translation

The process by which RNA sequences are translated to amino acid sequences during protein synthesis.

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.

Variant

DNA that differs among groups studied.

Vector

DNA molecule used to direct the replication of a cloned DNA fragment (“insert”) in a host cell.