CARTA Glossary

Displaying 1 - 100 of 198 defined words
Word Definition Related Vocabulary
7q11.23 Duplication Syndrome A developmental disorder resulting from a duplication of approximately 25 genes on chromosome 7.

A reversible change in a biological characteristic contributing to maintaining homeostasis during exposure to an environmental stress.


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


Breeding between isolated populations.


Arranging related sequences by position.


Alternative variant gene forms at the same locus (location on the chromosome)

Allele Frequency

The proportion of all alleles within a population that are a particular type.


Chromosomes that determine sex (XY, with Y-Chromosome inherited paternally).


The inability to recognize musical tones or to reproduce them (tone deafness).


A roughly almond-shaped mass of gray matter inside each cerebral hemisphere, involved with the experiencing of emotions, including fear.

Anatomically Modern Humans

Homo sapiens dating back to almost 200,000 years ago that are within range of the skeletal features of modern Homo sapiens.


Something that deviates from what is standard, normal, or expected.


A nervous disorder characterized by a state of excessive uneasiness and apprehension.

Archaic Admixture

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

Archaic Homo sapiens

Earlier forms of Homo sapiens, anatomically distinct from modern humans.


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


Build-up of cholesterol and inflammation in the lining of blood vessels.


A mental condition, present from early childhood, characterized by difficulty in communicating and forming relationships with other people and in using language and abstract concepts.

Autism spectrum disorder

A range of conditions characterized by challenges with social skills, repetitive behaviors, speech, and nonverbal communication.


An account of a person’s life written by that person.


All other non-allosomal chromosomes. Do not differ between the sexes.


Methods in probability and statistics named after Thomas Bayes (1702-61) in which a quantity is assigned to represent a state of knowledge, or a state of belief.

Beckwith-Wiedemann Syndrome

An overgrowth disorder caused by an imbalance in sex-specific modification of chromosomes and characterized by higher risk of childhood cancer and certain congenital features.


The way in which one acts or conducts oneself, especially toward others.

Behaviorally Modern Humans

Current Homo sapiens, a population of hominins who evolved in Africa 200-100,000 years ago, developed a suite of behavioral and cognitive traits that distinguished them from other hominins in and outside Africa, which likely allowed them to replace all other related hominins across the planet, with some interbreeding but no surviving hybrid species.

Canids (Canidae)

Carnivorous lineage that includes domestic dogs, wolves, foxes, jackals, dingoes, and other extant and extinct dog-like mammals.

Carcinoma A cancer of the epithelial tissue of the lining of internal organs or the skin.

An acquired or hereditary disease of heart muscle resulting in weakening, enlargement, thickening, or rigidity of the heart.

Cardiovascular Disease

Conditions of the heart that include diseased vessels, structural problems, and blood clots (sometimes used synonymously with Atherosclerosis).

Cetaceans (Cetacea)

A clade of aquatic mammals consisting of whales, dolphins, and porpoises.


A bacterial disease causing severe diarrhea and dehydration, usually spread in sewage-contaminated water.


DNA wrapped around histone proteins


Discrete strands of packaged DNA.

Chronic Mountain Sickness

A disease characterized loss of adaptation to high-altitude hypoxia. Signs include severe polycythemia (increased blood volume occupied by red blood cells) and hypoxemia (lack of oxygenation).


A group of organisms consisting of a common ancestor and all lineal descendants and represent a single branch on the “tree of life.”


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.


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.


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


The mental action or process of acquiring knowledge and understanding through thought, experience, and the senses.


A relationship between organisms where one derives food or other benefits from the other without hurting or helping it.

Comparative Method

A method of evolutionary analysis that uses comparisons across independently evolved species, as a means for studying historical and physical constraints.


A disease or physical abnormality present from birth.


Members of the same species.

Coronary Thrombosis

Blockage of blood flow to the heart, caused by atherosclerosis and blood clotting in a coronary artery. The most common kind of heart attack.

Corvids (Corvidae)

The family of stout-billed passerine birds (an order of birds characterized by an arrangement of toes with three forward and one backward to facilitate perching) including the crows, ravens, rooks, jackdaws, jays, magpies, treepies, choughs, and nutcrackers.

Corvus brachyrhynchos

The American crow.


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.


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

Cumulative Cooperative Culture

In human culture, the accumulation of cultural modifications over time (“ratchet effect”) resulting from social learning, active teaching, social motivations for conformity, and normative sanctions against non-conformity.


Study of population size over time.


An extinct hominin population contemporary with Neandertals that hybridized with ancient humans. Knowledge of Denisovan morphology is based on two small fossils found in Siberia.


A population of extinct hominins contemporary with Neandertals. Our knowledge of Denisovan morphology is based on two small fossils (a finger bone and a molar) found in the Eurasian Steppe.

Dental Calculus

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

Derived Alleles

Variants arising since last common ancestor.

Developmental adaptation

An irreversible biological characteristic acquired during growth and development in a stressful environment.

Developmental adaptation

An irreversible biological characteristic acquired during growth and development in a stressful environment.


Two sets of paired chromosomes.

Disease Phenotype

Outwardly apparent effects of a disease.


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


Deoxyribonucleic acid. The molecule of inheritance, consisting of sequences of the four nucleotide building blocks (ATGC).

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.

Elephants (Elephantidae)

Large herbivorous mammals recognized by their long trunks, tusks, large ear flaps, and pillar-like legs. Elephants are found throughout sub-Saharan Africa, South Asia, and Southeast Asia and consist of three species, the Africa bush elephant (Loxodonta africana), the African forest elephant (L. cyclotis), and the Asian elephant (Elephas maximus).


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


Information not encoded directly in DNA.


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


Open chromatin, allowing information to be read.

Evolutionary Medicine

The application of modern evolutionary theory to understanding health and disease.


Sequences at a locus that encode proteins

Falciparum Malaria

Human-specific (malignant) malaria caused by the protozoan parasite, Plasmodium falciparum.

False Beliefs

The ability to recognize that others can have beliefs about the world that are diverging. An important component of Theory of Mind.

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.

Functional Magnetic Resonance Imaging (fMRI)

A neuroimaging technique for measuring and mapping brain activity that is noninvasive and safe. The phenomenon of nuclear magnetic resonance (NMR) is used to generate a signal that can be mapped and turned into an image of brain activity.


Intentional, ritualistic disposal of the deceased. May include behaviors such as placement of grave goods (artefacts and/or natural materials such as flowers) and positioning of interred body(ies).


DNA whose information encodes a function.

Gene Flow

Movement of alleles between populations.

Gene Regulation

Alterations of gene expression/activity.

Genetic adaptation

A biological characteristic with a heritable basis that improves reproduction and/or survival and results from evolution by natural selection.

Genetic adaptation

A biological characteristic with a heritable basis that improves reproduction and/or survival and results from evolution by natural selection.

Genetic Drift

Loss of alleles by chance.


The study of genes and their inheritance.


A person who is exceptionally intelligent or creative, either generally or in some particular respect.


All 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.

Genomic Imprinting

Modification of the genome at the level of DNA (e.g. methylation) or its packaging into chromatin (histone tail modification via phosphorylation, acetylation, ubiquitination or glycosylation).


The study of genome structure/function.


The two alleles at one or more diploid loci.


Characterizing genetic variants at one or more loci.

Great Apes

A taxonomic family that was once incorrectly used to denote chimpanzees, bonobos, gorillas and orangutans, but not humans.


One set of unpaired chromosomes.


A set of alleles at distinct positions in the genome which are inherited together.

Health Disparity

Differences in the burden of disease, injury, violence, and health care as experienced by socially disadvantaged populations.


One of two paired chromosomes is affected by a deletion. The other chromosome is intact. 


Tightly wrapped and inactive chromatin.


Have two different alleles at a locus.


The elongated ridges on the floor of each lateral ventricle of the brain, thought to be a center of emotion, memory, and the autonomic nervous system.


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


A relatively stable equilibrium between interdependent elements, especially as maintained by physiological processes.