CARTA Glossary

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

Organic compounds that are the building blocks of proteins and participate in a number of processes such as neurotransmitter transport and biosynthesis. Amino acids are encoded by the genome as different three nucleotide codes.

The proposed geologic epoch defined by human influence on the Earth. There is yet to be consensus for when the anthropocene began with suggestions ranging from the start of the agricultural revolution to the first atomic explosion.

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

A form a locomotion involving only an animal’s rear, or hind, limbs for propulsion.

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

A genetic change that decreases an individual’s fitness and increases susceptibility to or causes disease or disorder. Most deleterious mutations are recessive, i.e. selection can only act on them when an individual carries two copies of the same mutation.

The specific order of the nucleotide bases along a strand of DNA.

The inner cell mass of the human blastocyst, the rapidly dividing fertilized egg at four to seven days post fertilization. ESCs are pluripotent, meaning they can differentiate into all cell types of the three embryonic tissue layers.

The largest of the four major lobes of the brain in mammals, and is located at the front of each hemisphere. It is devoted to action such as skeletal movement, ocular movement, speech control, the expression of emotions. In humans, the largest part of the frontal cortex is the prefrontal cortex.

A gene that encodes a protein in the GATA family of transcription factors. GATA3 plays an important role in endothelial cell biology and in allergy and immunity against worm infections. In humans, defects in GATA3 cause hypoparathyroidism with sensorineural deafness and renal dysplasia.

The total of all genes and their variants (alleles) of a population of a species.

The presence of deleterious gene variants (including recessive variants) in a population.

A class of proteins with covalently attached glycans. Glycoproteins play a part in important cellular functions like embryonic development, cell-to-cell recognition, cell adhesion, and immune functions.

The hominin species comprising all living humans. Meaning “wise man” in Latin, the name was introduced by Carl Linnaeus in 1758. The earliest fossil evidence of Homo sapiens appears in Africa around 300 kya (see Jebel Irhoud Hominins).

A subsistence strategy in which most or all food is obtained by foraging and is in contrast to agriculture, which rely mainly on domesticated species.

The time span between live births.

Machine learning algorithms that can recognize, summarize, translate, predict, and generate human languages on the basis of very large text-based datasets.

A DNA sequencing technology that generates reads that are typically longer than 10 kbp in length. To be distinguished from short read sequencing technology (eg. Illumina), which is typically 100-250 bp in length.

Microorganisms, such as bacteria, archaea, protists, fungi, and viruses, that are found in a particular environment.

The delay or slowing of development. Compared to other primates, humans are considered neotenous due to the retention of physiological traits typical of juveniles such as facial features (globular skull shape, thinness of skull bones, reduction of browridge, flattened face, larger eyes), limb length ratio, and behavior.

A self-renewing, multipotent cell that generates the neurons and glia of the nervous system of all animals during embryonic development. Some persist in the adult vertebrate brain and continue to produce neurons throughout life.

A branch of linguistics that examines the connection between language and the structure and functioning of the brain.

RNA that is not translated into a protein. Important ncRNAs include transfer RNAs (tRNAs) and ribosomal RNAs (rRNAs), as well as small RNAs such as microRNAs, siRNAs, piRNAs, snoRNAs, snRNAs, exRNAs, scaRNAs and the long ncRNAs such as Xist and HOTAIR.

Molecular building blocks for DNA and RNA Specifically, they consist of three components: a 5-carbon sugar, a phosphate group, and a nitrogenous base. The type of sugar, either deoxyribose or ribose, determines if the resulting nucleic acid is DNA or RNA.

The dramatic reduction in population size, which often results in a loss of genetic diversity.

One of the four classes of major biomolecules. Proteins are molecules encoded by DNA sequences and composed of amino acids connected by peptide bonds. These range in size from a few amino acids (short peptides) to large molecules (long polypeptides) comprised of thousands of amino acids.

The ability to embed linguistic structures of similar types within each other.

A mental disorder characterized by delusions, hallucinations, disorganized speech and behavior, and other symptoms that cause social or occupational dysfunction (DSM-V, 2013).

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.

The variation in structure of an organism’s chromosomes. It consists of many kinds of variation in the genome of one species, and usually includes microscopic and submicroscopic types, such as deletions, duplications, copy-number variants, insertions, inversions and translocations that are greater than or equal to 50 base pairs in length.