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

An artificially grown in vitro brain model used for investigating brain development and neurological disease. Brain organoids are derived from induced pluripotent stem cells and embryonic stem cells.

Discrete strands of tightly packaged chromatin.

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.

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

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 process by which the information contained within a gene (nucleotide sequence) is used to direct protein synthesis and dictate cell function. Nearly all of the cells in the body contain identical genes, but only a subset of this information is used or expressed at any time. The genes expressed in a cell determine what that cell can do.

The total of heritable traits within a species.

The study of genes and their inheritance.

The study of genome structure/function.

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 current geological epoch, from about 11,700 years ago (after the end of the last Ice Age cycle) to the present that is marked by globally warmer and more stable climates.

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.

A protein-coding gene that is present in humans but absent in other non-human ape species.

Somatic (body) cells that are artificially reprogrammed to an embryonic-like stem cell state and differentiated into other types of cells.

The oldest known “early” human fossils discovered, dating to roughly 300 kya from an archaeological site in Morocco. The location of this discovery suggests a “pan-African” origin of humans, with a dispersed interbreeding population, likely aided by climactic factors.

The scientific study of human language.

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.

A group of two or more atoms covalently bonded together to form the smallest fundamental unit of a chemical compound that can take part in a chemical reaction.

The network of nerve cells and fibers that transmits nerve impulses between parts of the body.

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.

A multidisciplinary science that is concerned with the study of the structure and function of the nervous system. It encompasses the evolution, development, cellular and molecular biology, physiology, anatomy and pharmacology of the nervous system, as well as computational, behavioral and cognitive neuroscience.

One of the four classes of major biomolecules. The overall name for DNA and RNA, which are composed of nucleotides. DNA is double-stranded and more stable while RNA is single-stranded and less stable.

A type of transcription factor that can open and bind to chromatin. They control enhancer activation and are important in the recruitment of other transcription factors and in controlling DNA methylation.

The cerebral cortex that covers the front part of the frontal lobe and is linked to complex cognitive behavior, personality, long and short-term memory, decision making, speech, language, and a person’s will to live.

A section of DNA or RNA that codes for protein.

A molecule essential in gene coding, decoding, regulation, and expression. RNA consists of sequences of the four nucleotide bases: Adenine, Uracil, Guanine, and Cytosine. Types of RNA include messenger RNA (mRNA), transfer RNA (tRNA), ribosomal RNA (rRNA), small nuclear RNA (snRNA), and other non-coding RNAs. Some viruses including Influenza A and SARS-CoV-2 have RNA genomes.

Any repetitive portion of DNA arising by genome duplication that is at least 90% identical and >1 kbp in length.

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.

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.