CARTA Glossary

Displaying 1 - 100 of 134 defined words
Word Definition Related Vocabulary
Acclimatization A reversible change in a biological characteristic contributing to maintaining homeostasis during exposure to an environmental stress.
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 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.
Allosomes Chromosomes that determine sex (XY, with Y-Chromosome inherited paternally).
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.
Atherosclerosis Build-up of cholesterol and inflammation in the lining of blood vessels.
Autosomes All other non-allosomal chromosomes. Do not differ between the sexes.
Bayesian 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.
Carcinoma A cancer of the epithelial tissue of the lining of internal organs or the skin.
Cardiomyopathy 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).
Cholera A bacterial disease causing severe diarrhea and dehydration, usually spread in sewage-contaminated water.
Chromatin DNA wrapped around histone proteins
Chromosomes 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).
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.
Commensal 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.
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.
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.
Denisovans 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.
Denisovans 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.
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.
Diploid Two sets of paired chromosomes.
Disease Phenotype Outwardly apparent effects of a disease.
Divergence Change in genetic content or phenotype between isolated populations or species.
DNA 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.
Enhancer Short region of DNA that can be bound by proteins to alter transcription of a gene.
Epigenetic Information not encoded directly in DNA.
Epigenome Molecular modifications of the DNA and its associated histone proteins, affecting its function.
Euchromatin Open chromatin, allowing information to be read.
Evolutionary Medicine The application of modern evolutionary theory to understanding health and disease.
Exons Sequences at a locus that encode proteins
Falciparum Malaria Human-specific (malignant) malaria caused by the protozoan parasite, Plasmodium falciparum.
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 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 Drift Loss of alleles by chance.
Genetics The study of genes and their inheritance.
Genome 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).
Genomics The study of genome structure/function.
Genotype The two alleles at one or more diploid loci.
Genotyping 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.
Haploid One set of unpaired chromosomes.
Haplotype 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.
Heterochromatin Tightly wrapped and inactive chromatin.
Heterozygotes Have two different alleles at a locus.
Histones Chief protein components of chromatin and can be chemically modified as part of epigenetics.
Homeostasis A relatively stable equilibrium between interdependent elements, especially as maintained by physiological processes.
Hominid A classification comprising all modern and extinct “Great Apes”and humans.
Hominin A classification comprising modern and extinct human species, and all immediate ancestors (includes the genera Homo, Australopithecus, Paranthropus and Ardipithecus).
Homo The genus that comprises the species Homo sapiens, which includes modern humans, as well as several extinct species classified as ancestral to or closely related to modern humans.
Homo erectus An extinct hominin species with fossil evidence from 1.9 million (possibly earlier) to 70 thousand years ago and found from Africa to Indonesia. May have been the first hominin to leave Africa. H. erectus DNA may be retrievable from other species due to archaic admixture.
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.
Homozygotes Have two identical alleles at a locus
Hybridization Breeding among recognized species.
Hygiene Hypothesis A lack of early childhood exposure to infectious agents, symbiotic microorganisms and parasites believed to increase susceptibility to allergies and autoimmune diseases.
Hypoxia Less than the normal amount of oxygen reaching the tissues; also, low partial pressure of oxygen at high elevations (hypobaric hypoxia).
IncRNA Long non-coding microRNA
Indels Insertions or deletions of DNA sequence.
Intrauterine Life The interval of life between conception and birth.
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 (pl. Loci) A unique physical position on a chromosome.
Maintenance and Defense An organism’s way of maintaining its body and physiological homeostasis while also defending against parasites, pathogens, and internal crises (e.g. cancer).
Meningococcus (Neisseria meningitidis) A bacterium that can cause meningitis and meningococcemia, a life-threatening infection in the bloodstream (sepsis).
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.
miRNA Short non-coding regulatory microRNA
Mitochondrial DNA (mtDNA) Maternally inherited DNA found only in the mitochondria.
Morphology Shape or form (outward appearance) of an organism.
Muscular Dystrophy A group of genetic diseases that cause progressive weakness and loss of muscle mass.
Mutation Change of a DNA sequence.
Neanderthals An extinct Eurasian hominin species that existed from 500,000 to 30,000 years ago and hybridized with ancient humans.
Obstetric Dilema A biological constraint of bipedalism and large fetal brains imposed on the human female pelvis.
Pathogen A bacterium, virus, or other microorganism that can cause disease.
Pathophysiology Disordered physiological processes associated with disease or injury.