CARTA Glossary

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

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

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

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.

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

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

Discrete strands of tightly packaged chromatin.

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

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

An extinct hominin population contemporary with Neanderthals that hybridized with ancient humans and Neanderthals. Knowledge of Denisovan morphology is limited to two small fossils found in Siberia and a jaw in Tibet.

Variants arising since last common ancestor.

Organisms with two sets of each chromosome except for XY sex chromosomes in male mammals.

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

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

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

Replaced all other alleles in a population.

Movement of alleles between populations via mating.

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

The study of genes and their inheritance.

An approach for “gene mapping” in which hundreds of thousands of SNPs are tested statistically for genetic associations with a phenotype.

The study of genome structure/function.

A taxonomic family denoting the extant chimpanzees, bonobos, gorillas, and orangutans. This is biologically invalid grouping given that chimpanzees and bonobos are more closely related to humans.

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

Tightly wrapped and inactive chromatin.

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

A classification comprising all living and extinct “Great Apes” and humans.

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

Have two identical alleles at a locus

A lack of early childhood exposure to infectious agents, symbiotic microorganisms and parasites believed to increase susceptibility to allergies and autoimmune diseases.

The interval of life between conception and birth.

Chromosome number in the cell nucleus.

A bacterium that can cause meningitis and meningococcemia, a life-threatening infection in the bloodstream (sepsis).

Maternally inherited DNA found only in the mitochondria, the energy producing organelles of eukaryotic cells. Mitochondria are thought to descend from symbiotic bacteria that have become part of eukaryotic cells.

A group of genetic diseases that cause progressive weakness and loss of muscle mass.

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

A bacterium, virus, or other microorganism that can cause disease.

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

A bacterium that infects the lungs and sometimes the blood stream.

A defined group of similar individuals among whom interbreeding occurs.

A genetic disorder usually caused by deletion of part of chromosome 15 inherited from the father, causing imbalance in sex-specific imprinting. Results in behavioral problems, intellectual disability, and short stature.

Region of DNA that initiates transcription of a particular gene.

Rapid eye movement sleep, a phase of mammalian sleep characterized by random movement of eyes, low muscle tone, and vivid dreams.

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

Family of acidic sugars with a nine-carbon backbone. They are found at the outermost fringes of the sugar chains (glycans) that cover all vertebrate cells. The two most common sialic acids in mammals are N-acetylneuraminic acid (Neu5Ac) and N-glycolylneuraminic acid (Neu5Gc).

A variation involving a single base-pair, occurring in at least 1% of the population.

Proteins that initiate and regulate the transcription of genes. Transcription factors bind to specific sequences of DNA called regulatory elements, or other proteins that do so, and directly or indirectly affect the initiation of transcription. The activities of transcription factors determine where and when genes are expressed.

A bacterial infection affecting only humans caused by Salmonella typhi. Symptoms include a gradual onset of a high fever, which is commonly accompanied by weakness, abdominal pain, constipation, headaches, and mild vomiting. Typhoid is spread by eating or drinking food or water contaminated with the feces of an infected person.