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Index Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements. [1]

296 relations: Adenine, Albert von Kölliker, Albinism, Alkylation, Allele, Alternatives to evolution by natural selection, Alu element, American Association for Cancer Research, American Association for the Advancement of Science, American Society for Clinical Investigation, American Society for Microbiology, Amine, Amino acid, Amorph (gene), Amyotrophic lateral sclerosis, Aneuploidy, Annual Reviews (publisher), Antioxidant, AP site, Ape, Apple, Arginine, Asexual reproduction, Astrocytoma, ATM serine/threonine kinase, Étienne Geoffroy Saint-Hilaire, Bacteria, Base pair, BBC News Online, BBC Radio 4, Begell House, Biologist, Biology, Bromodeoxyuridine, Bubonic plague, Budding, Budgerigar colour genetics, Butterfly, Cambridge University Press, Cancer, Carcinogen, Carcinogenesis, Cat, CCR5, CEBPA, Cell division, Cell Press, Charles Darwin, Chromosomal crossover, Chromosomal inversion, ..., Chromosomal rearrangement, Chromosomal translocation, Chromosome, Chromosome 15, Chromosome 2, Coding region, Cold Spring Harbor Laboratory Press, Color vision, Compound heterozygosity, Cone cell, Congenital adrenal hyperplasia, Coverage (genetics), Cre-Lox recombination, Crosslinking of DNA, Cytosine, Deamination, Degeneracy (biology), Deletion (genetics), Delta (letter), Depurination, Diazo, DNA, DNA adduct, DNA damage (naturally occurring), DNA oxidation, DNA repair, DNA repair-deficiency disorder, DNA replication, DNA sequencing, Dominance (genetics), Douglas J. Futuyma, Drosophila, Ecogenetics, Effective population size, Elsevier, Embryology, Encyclopedia of Earth, ENU, Epidermolysis bullosa, Escherichia coli, Ethidium bromide, Ethnic groups in Europe, Etiology, Europe, Evolution, Evolutionary dynamics, Evolutionary pressure, Exponential decay, Extracellular matrix, Extrachromosomal DNA, Fertilisation, Fibrillin 1, Fitness (biology), Frameshift mutation, Fusion gene, Gamete, Gamma ray, Gene, Gene duplication, Gene expression, Gene family, Gene pool, Gene product, Genetic code, Genetic drift, Genetic recombination, Genetic testing, Genetic variation, Geneticist, Genetics, Genetics Society of America, Genome, Genomic DNA, Germ cell, Germline, Germline mutation, Glycoprotein, Grafting, H. Allen Orr, Haploinsufficiency, Hemoglobin, HIV, HIV/AIDS, Homeobox, Homininae, Homology (biology), Hugo de Vries, Human, Human genome, Huntington's Disease Outreach Project for Education at Stanford, Hydrogen, Hydrolysis, Hydroxylamine, Hypoxanthine, Immune system, In Our Time (radio series), In vivo, Inbreeding, Indigenous peoples, Insertion (genetics), Intein, Intercalation (biochemistry), Intron, Ionizing radiation, John H. Gillespie, John Wiley & Sons, Junctional diversity, Ketone, Lamarckism, Leiden University Medical Center, Lethal allele, Lineage (evolution), Loss of heterozygosity, Lysine, Malaria, Marfan syndrome, Masatoshi Nei, Meiosis, Messenger RNA, Missense mutation, Mitochondrial DNA, Mobile genetic elements, Modern synthesis (20th century), Molecular clock, Motoo Kimura, Mouse, Muller's morphs, Multicellular organism, Multimodal distribution, Mutagen, Mutagenesis, Mutalyzer, Mutant, Mutation rate, N-terminus, National Academy of Sciences, National Council for Science and the Environment, Natural selection, Nature Publishing Group, Neutral mutation, Neutral theory of molecular evolution, Nitrous acid, Non-coding DNA, Non-homologous end joining, Non-ionizing radiation, Nonsense mutation, Nonsynonymous substitution, Nucleic acid analogue, Nucleotide, Null allele, Ochratoxin A, Oenothera lamarckiana, Offspring, On the Origin of Species, Orange (fruit), Organism, Orthogenesis, Outcrossing, Oxford University Press, Oxidative stress, P53, PBS, Peroxisome proliferator-activated receptor gamma, Phenotype, Philadelphia chromosome, Phyletic gradualism, Plasmodium, PLOS, Point mutation, Polymorphism (biology), Polyploid, Prion, PRNP, Promoter (genetics), Protein, Protein domain, Purine, Pyrimidine, Pyrimidine dimer, Rat, Reading frame, Red blood cell, Redundancy (engineering), Reginald Punnett, Replication slippage, Replication timing quantitative trait loci, Richard Goldschmidt, RNA, RNA splicing, RNA virus, Robertsonian translocation, Rod cell, Ronald Fisher, Royal Society, Saltation (biology), Secrets of the Dead, Sequence analysis, Sequencing, Sewall Wright, Sex, Sexual reproduction, Sickle cell disease, Sickle cell trait, Signature-tagged mutagenesis, Silent mutation, Site-directed mutagenesis, Slipped strand mispairing, Smallpox, Society for the Study of Evolution, Somatic (biology), Somatic cell, Southern Africa, Speciation, Species, Splice site mutation, Springer Science+Business Media, Stop codon, Sub-Saharan Africa, Superoxide dismutase, Synonymous substitution, Tautomer, Temperature-sensitive mutant, The Neutral Theory of Molecular Evolution, Thomas Hunt Morgan, Thymine, TILLING (molecular biology), Tn10, Transition (genetics), Translation (biology), Transposable element, Transposon mutagenesis, Transversion, Trinucleotide repeat expansion, Udny Yule, Ultraviolet, Uniformitarianism, Vesicular stomatitis virus, Virus, WebMD, Wild type, Wiley-Blackwell, William Bateson, X-ray, Yeast, Zygosity, 5-Methylcytosine. Expand index (246 more) »


Adenine (A, Ade) is a nucleobase (a purine derivative).

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Albert von Kölliker

Albert von Kölliker (born Rudolf Albert Kölliker; 6 July 18172 November 1905) was a Swiss anatomist, physiologist, and histologist.

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Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes.

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Alkylation is the transfer of an alkyl group from one molecule to another.

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An allele is a variant form of a given gene.

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Alternatives to evolution by natural selection

Alternatives to evolution by natural selection, also described as non-Darwinian mechanisms of evolution, have been proposed by scholars investigating biology since classical times to explain signs of evolution and the relatedness of different groups of living things.

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Alu element

An Alu element is a short stretch of DNA originally characterized by the action of the Arthrobacter luteus (Alu) restriction endonuclease.

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American Association for Cancer Research

The American Association for Cancer Research (AACR) is the world's oldest and largest professional association related to cancer research.

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American Association for the Advancement of Science

The American Association for the Advancement of Science (AAAS) is an American international non-profit organization with the stated goals of promoting cooperation among scientists, defending scientific freedom, encouraging scientific responsibility, and supporting scientific education and science outreach for the betterment of all humanity.

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American Society for Clinical Investigation

The American Society for Clinical Investigation (ASCI), established in 1908, is one of the oldest and most respected medical honor societies in the United States.

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American Society for Microbiology

The American Society for Microbiology (ASM), originally the Society of American Bacteriologists, is a professional organization for scientists who study viruses, bacteria, fungi, algae, and protozoa as well as other aspects of microbiology.

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In organic chemistry, amines are compounds and functional groups that contain a basic nitrogen atom with a lone pair.

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Amino acid

Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.

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Amorph (gene)

An amorph is a mutated allele that has lost the ability of the parent allele (whether wild type or any other type) to encode any functional protein.

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Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND), and Lou Gehrig's disease, is a specific disease which causes the death of neurons controlling voluntary muscles.

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Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46.

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Annual Reviews (publisher)

Annual Reviews, located in Palo Alto California, Annual Reviews is a nonprofit publisher dedicated to synthesizing and integrating knowledge for the progress of science and the benefit of society.

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Antioxidants are molecules that inhibit the oxidation of other molecules.

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AP site

In biochemistry and molecular genetics, an AP site (apurinic/apyrimidinic site), also known as an abasic site, is a location in DNA (also in RNA but much less likely) that has neither a purine nor a pyrimidine base, either spontaneously or due to DNA damage.

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Apes (Hominoidea) are a branch of Old World tailless anthropoid primates native to Africa and Southeast Asia.

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An apple is a sweet, edible fruit produced by an apple tree (Malus pumila).

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Arginine (symbol Arg or R) is an α-amino acid that is used in the biosynthesis of proteins.

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Asexual reproduction

Asexual reproduction is a type of reproduction by which offspring arise from a single organism, and inherit the genes of that parent only; it does not involve the fusion of gametes, and almost never changes the number of chromosomes.

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Astrocytomas are a type of cancer of the brain.

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ATM serine/threonine kinase

ATM serine/threonine kinase, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks.

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Étienne Geoffroy Saint-Hilaire

Étienne Geoffroy Saint-Hilaire (15 April 1772 – 19 June 1844) was a French naturalist who established the principle of "unity of composition".

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Bacteria (common noun bacteria, singular bacterium) is a type of biological cell.

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Base pair

A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.

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BBC News Online

BBC News Online is the website of BBC News, the division of the BBC responsible for newsgathering and production.

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BBC Radio 4

BBC Radio 4 is a radio station owned and operated by the British Broadcasting Corporation (BBC) that broadcasts a wide variety of spoken-word programmes including news, drama, comedy, science and history.

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Begell House

Begell House is an academic publisher of medical and scientific journals and books, with a concentration on engineering and biomedical sciences.

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A biologist, is a scientist who has specialized knowledge in the field of biology, the scientific study of life.

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Biology is the natural science that studies life and living organisms, including their physical structure, chemical composition, function, development and evolution.

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Bromodeoxyuridine (5-bromo-2'-deoxyuridine, BrdU, BUdR, BrdUrd, broxuridine) is a synthetic nucleoside that is an analog of thymidine.

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Bubonic plague

Bubonic plague is one of three types of plague caused by bacterium Yersinia pestis.

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Budding is a type of asexual reproduction in which a new organism develops from an outgrowth or bud due to cell division at one particular site.

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Budgerigar colour genetics

The science of budgerigar colour genetics deals with the heredity of mutations which cause colour variation in the feathers of the species known scientifically as Melopsittacus undulatus.

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Butterflies are insects in the macrolepidopteran clade Rhopalocera from the order Lepidoptera, which also includes moths.

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Cambridge University Press

Cambridge University Press (CUP) is the publishing business of the University of Cambridge.

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Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.

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A carcinogen is any substance, radionuclide, or radiation that promotes carcinogenesis, the formation of cancer.

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Carcinogenesis, also called oncogenesis or tumorigenesis, is the formation of a cancer, whereby normal cells are transformed into cancer cells.

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The domestic cat (Felis silvestris catus or Felis catus) is a small, typically furry, carnivorous mammal.

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C-C chemokine receptor type 5, also known as CCR5 or CD195, is a protein on the surface of white blood cells that is involved in the immune system as it acts as a receptor for chemokines.

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CCAAT/enhancer-binding protein alpha is a protein encoded by the CEBPA gene in humans.

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Cell division

Cell division is the process by which a parent cell divides into two or more daughter cells.

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Cell Press

Cell Press, an imprint of Elsevier, is a publisher of biomedical journals, including Cell and Neuron.

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Charles Darwin

Charles Robert Darwin, (12 February 1809 – 19 April 1882) was an English naturalist, geologist and biologist, best known for his contributions to the science of evolution.

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Chromosomal crossover

Chromosomal crossover (or crossing over) is the exchange of genetic material between homologous chromosomes that results in recombinant chromosomes during sexual reproduction.

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Chromosomal inversion

An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end.

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Chromosomal rearrangement

In genetics, a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome.

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Chromosomal translocation

In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.

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A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.

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Chromosome 15

Chromosome 15 is one of the 23 pairs of chromosomes in humans.

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Chromosome 2

Chromosome 2 is one of the 23 pairs of chromosomes in humans.

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Coding region

The coding region of a gene, also known as the CDS (from CoDing Sequence), is that portion of a gene's DNA or RNA that codes for protein.

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Cold Spring Harbor Laboratory Press

Cold Spring Harbor Laboratory Press was founded in 1933 to aid in Cold Spring Harbor Laboratory's purpose of furthering the advance and spread of scientific knowledge.

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Color vision

Color vision is the ability of an organism or machine to distinguish objects based on the wavelengths (or frequencies) of the light they reflect, emit, or transmit.

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Compound heterozygosity

Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state.

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Cone cell

Cone cells, or cones, are one of three types of photoreceptor cells in the retina of mammalian eyes (e.g. the human eye).

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Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).

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Coverage (genetics)

Coverage (or depth) in DNA sequencing is the number of unique reads that include a given nucleotide in the reconstructed sequence.

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Cre-Lox recombination

Cre-Lox recombination is a site-specific recombinase technology, used to carry out deletions, insertions, translocations and inversions at specific sites in the DNA of cells.

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Crosslinking of DNA

In genetics, crosslinking of DNA occurs when various exogenous or endogenous agents react with two nucleotides of DNA, forming a covalent linkage between them.

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Cytosine (C) is one of the four main bases found in DNA and RNA, along with adenine, guanine, and thymine (uracil in RNA).

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Deamination is the removal of an amine group from a protein molecule.

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Degeneracy (biology)

Within biological systems, degeneracy occurs when structurally dissimilar components/modules/pathways can perform similar functions (i.e. are effectively interchangeable) under certain conditions, but perform distinct functions in other conditions.

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Deletion (genetics)

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.

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Delta (letter)

Delta (uppercase Δ, lowercase δ or 𝛿; δέλτα délta) is the fourth letter of the Greek alphabet.

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Depurination is a chemical reaction of purine deoxyribonucleosides, deoxyadenosine and deoxyguanosine, and ribonucleosides, adenosine or guanosine, in which the β-N-glycosidic bond is hydrolytically cleaved releasing a nucleic base, adenine or guanine, respectively.

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Diazo refers to a type of organic compound called diazo compound that has two linked nitrogen atoms (azo) as a terminal functional group.

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Deoxyribonucleic acid (DNA) is a thread-like chain of nucleotides carrying the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses.

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DNA adduct

In molecular genetics, a DNA adduct is a segment of DNA bound to a cancer-causing chemical.

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DNA damage (naturally occurring)

DNA damage is distinctly different from mutation, although both are types of error in DNA.

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DNA oxidation

DNA oxidation is the process of oxidative damage of deoxyribonucleic acid.

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DNA repair

DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome.

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DNA repair-deficiency disorder

A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair.

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DNA replication

In molecular biology, DNA replication is the biological process of producing two identical replicas of DNA from one original DNA molecule.

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DNA sequencing

DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Douglas J. Futuyma

Douglas Joel Futuyma (born 24 April 1942) is an American evolutionary biologist.

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Drosophila is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or (less frequently) pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species to linger around overripe or rotting fruit.

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Ecogenetics is a branch of genetics that studies genetic traits related to the response to environmental substances.

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Effective population size

The effective population size is "the number of individuals in a population who contribute offspring to the next generation," or all the breeding adults in that population.

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Elsevier is an information and analytics company and one of the world's major providers of scientific, technical, and medical information.

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Embryology (from Greek ἔμβρυον, embryon, "the unborn, embryo"; and -λογία, -logia) is the branch of biology that studies the prenatal development of gametes (sex cells), fertilization, and development of embryos and fetuses.

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Encyclopedia of Earth

The Encyclopedia of Earth (abbreviated EoE) is an electronic reference about the Earth, its natural environments, and their interaction with society.

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ENU, also known as N-ethyl-N-nitrosourea (chemical formula C3H7N3O2), is a highly potent mutagen.

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Epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of genetic conditions that result in easy blistering of the skin and mucous membranes.

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Escherichia coli

Escherichia coli (also known as E. coli) is a Gram-negative, facultatively anaerobic, rod-shaped, coliform bacterium of the genus Escherichia that is commonly found in the lower intestine of warm-blooded organisms (endotherms).

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Ethidium bromide

Ethidium bromide is an intercalating agent commonly used as a fluorescent tag (nucleic acid stain) in molecular biology laboratories for techniques such as agarose gel electrophoresis.

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Ethnic groups in Europe

The Indigenous peoples of Europe are the focus of European ethnology, the field of anthropology related to the various indigenous groups that reside in the nations of Europe.

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Etiology (alternatively aetiology or ætiology) is the study of causation, or origination.

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Europe is a continent located entirely in the Northern Hemisphere and mostly in the Eastern Hemisphere.

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Evolution is change in the heritable characteristics of biological populations over successive generations.

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Evolutionary dynamics

Evolutionary dynamics is the study of the mathematical principles according to which biological organisms as well as cultural ideas evolve and evolved.

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Evolutionary pressure

Any cause that reduces reproductive success in a portion of a population potentially exerts evolutionary pressure, selective pressure or selection pressure.

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Exponential decay

A quantity is subject to exponential decay if it decreases at a rate proportional to its current value.

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Extracellular matrix

In biology, the extracellular matrix (ECM) is a collection of extracellular molecules secreted by support cells that provides structural and biochemical support to the surrounding cells.

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Extrachromosomal DNA

Extrachromosomal DNA is any DNA that is found outside the nucleus of a cell.

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Fertilisation or fertilization (see spelling differences), also known as generative fertilisation, conception, fecundation, syngamy and impregnation, is the fusion of gametes to initiate the development of a new individual organism.

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Fibrillin 1

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.

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Fitness (biology)

Fitness (often denoted w or ω in population genetics models) is the quantitative representation of natural and sexual selection within evolutionary biology.

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Frameshift mutation

A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three.

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Fusion gene

A fusion gene is a hybrid gene formed from two previously separate genes.

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A gamete (from Ancient Greek γαμετή gamete from gamein "to marry") is a haploid cell that fuses with another haploid cell during fertilization (conception) in organisms that sexually reproduce.

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Gamma ray

A gamma ray or gamma radiation (symbol γ or \gamma), is penetrating electromagnetic radiation arising from the radioactive decay of atomic nuclei.

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In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Gene duplication

Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution.

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Gene expression

Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product.

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Gene family

A gene family is a set of several similar genes, formed by duplication of a single original gene, and generally with similar biochemical functions.

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Gene pool

The gene pool is the set of all genes, or genetic information, in any population, usually of a particular species.

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Gene product

A gene product is the biochemical material, either RNA or protein, resulting from expression of a gene.

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Genetic code

The genetic code is the set of rules used by living cells to translate information encoded within genetic material (DNA or mRNA sequences) into proteins.

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Genetic drift

Genetic drift (also known as allelic drift or the Sewall Wright effect) is the change in the frequency of an existing gene variant (allele) in a population due to random sampling of organisms.

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Genetic recombination

Genetic recombination (aka genetic reshuffling) is the production of offspring with combinations of traits that differ from those found in either parent.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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Genetic variation

Genetic variation means that biological systems – individuals and populations – are different over space.

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A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms.

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Genetics is the study of genes, genetic variation, and heredity in living organisms.

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Genetics Society of America

The Genetics Society of America (GSA) is a scholarly membership society of more than 5,500 genetics researchers and educators, established in 1931.

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In the fields of molecular biology and genetics, a genome is the genetic material of an organism.

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Genomic DNA

Genomic deoxyribonucleic acid is chromosomal DNA, in contrast to extra-chromosomal DNAs like plasmids.

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Germ cell

A germ cell is any biological cell that gives rise to the gametes of an organism that reproduces sexually.

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In biology and genetics, the germline in a multicellular organism is the population of its bodily cells that are so differentiated or segregated that in the usual processes of reproduction they may pass on their genetic material to the progeny.

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Germline mutation

A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ovum).

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Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to amino acid side-chains.

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Grafting or graftage is a horticultural technique whereby tissues of plants are joined so as to continue their growth together.

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H. Allen Orr


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Haploinsufficiency is a mechanism of action to explain a phenotype when a diploid organism has lost one copy of a gene and is left with a single functional copy of that gene.

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Hemoglobin (American) or haemoglobin (British); abbreviated Hb or Hgb, is the iron-containing oxygen-transport metalloprotein in the red blood cells of all vertebrates (with the exception of the fish family Channichthyidae) as well as the tissues of some invertebrates.

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The human immunodeficiency virus (HIV) is a lentivirus (a subgroup of retrovirus) that causes HIV infection and over time acquired immunodeficiency syndrome (AIDS).

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Human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) is a spectrum of conditions caused by infection with the human immunodeficiency virus (HIV).

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A homeobox is a DNA sequence, around 180 base pairs long, found within genes that are involved in the regulation of patterns of anatomical development (morphogenesis) in animals, fungi and plants.

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Homininae is a subfamily of Hominidae.

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Homology (biology)

In biology, homology is the existence of shared ancestry between a pair of structures, or genes, in different taxa.

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Hugo de Vries

Hugo Marie de Vries ForMemRS (16 February 1848 – 21 May 1935) was a Dutch botanist and one of the first geneticists.

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Humans (taxonomically Homo sapiens) are the only extant members of the subtribe Hominina.

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Human genome

The human genome is the complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.

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Huntington's Disease Outreach Project for Education at Stanford

The Huntington’s disease Outreach Project for Education at Stanford (HOPES) is a student-run project at Stanford University dedicated to making scientific information about Huntington's disease (HD) more readily accessible to patients and the public.

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Hydrogen is a chemical element with symbol H and atomic number 1.

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Hydrolysis is a term used for both an electro-chemical process and a biological one.

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Hydroxylamine is an inorganic compound with the formula NH2OH.

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Hypoxanthine is a naturally occurring purine derivative.

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Immune system

The immune system is a host defense system comprising many biological structures and processes within an organism that protects against disease.

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In Our Time (radio series)

In Our Time is a live BBC radio discussion series exploring the history of ideas, presented by Melvyn Bragg since 15 October 1998.

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In vivo

Studies that are in vivo (Latin for "within the living"; often not italicized in English) are those in which the effects of various biological entities are tested on whole, living organisms or cells, usually animals, including humans, and plants, as opposed to a tissue extract or dead organism.

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Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically.

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Indigenous peoples

Indigenous peoples, also known as first peoples, aboriginal peoples or native peoples, are ethnic groups who are the pre-colonial original inhabitants of a given region, in contrast to groups that have settled, occupied or colonized the area more recently.

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Insertion (genetics)

In genetics, an insertion (also called an insertion mutation) is the addition of one or more nucleotide base pairs into a DNA sequence.

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An intein is a segment of a protein that is able to excise itself and join the remaining portions (the exteins) with a peptide bond in a process termed protein splicing.

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Intercalation (biochemistry)

In biochemistry, intercalation is the insertion of molecules between the planar bases of deoxyribonucleic acid (DNA).

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An intron is any nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product.

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Ionizing radiation

Ionizing radiation (ionising radiation) is radiation that carries enough energy to liberate electrons from atoms or molecules, thereby ionizing them.

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John H. Gillespie

John H. Gillespie is an evolutionary biologist interested in theoretical population genetics and molecular evolution.

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John Wiley & Sons

John Wiley & Sons, Inc., also referred to as Wiley, is a global publishing company that specializes in academic publishing.

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Junctional diversity

Junctional diversity describes the DNA sequence variations introduced by the improper joining of gene segments during the process of V(D)J recombination.

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In chemistry, a ketone (alkanone) is an organic compound with the structure RC(.

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Lamarckism (or Lamarckian inheritance) is the hypothesis that an organism can pass on characteristics that it has acquired through use or disuse during its lifetime to its offspring.

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Leiden University Medical Center

Leiden University Medical Center (Dutch: Leids Universitair Medisch Centrum) or LUMC is the university hospital affiliated with Leiden University, of which it forms the medical faculty.

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Lethal allele

Lethal alleles (also referred to as lethal genes or lethals) are alleles that cause the death of the organism that carries them.

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Lineage (evolution)

An evolutionary lineage is a temporal series of organisms, populations, cells, or genes connected by a continuous line of descent from ancestor to descendent.

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Loss of heterozygosity

Loss of heterozygosity (LOH) is a cross chromosomal event that results in loss of the entire gene and the surrounding chromosomal region.

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Lysine (symbol Lys or K) is an α-amino acid that is used in the biosynthesis of proteins.

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Malaria is a mosquito-borne infectious disease affecting humans and other animals caused by parasitic protozoans (a group of single-celled microorganisms) belonging to the Plasmodium type.

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Marfan syndrome

Marfan syndrome (MFS) is a genetic disorder of the connective tissue.

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Masatoshi Nei

is a population geneticist currently affiliated with the Department of Biology at Temple University as a Carnell Professor.

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Meiosis (from Greek μείωσις, meiosis, which means lessening) is a specialized type of cell division that reduces the chromosome number by half, creating four haploid cells, each genetically distinct from the parent cell that gave rise to them.

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Messenger RNA

Messenger RNA (mRNA) is a large family of RNA molecules that convey genetic information from DNA to the ribosome, where they specify the amino acid sequence of the protein products of gene expression.

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Missense mutation

In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.

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Mitochondrial DNA

Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, adenosine triphosphate (ATP).

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Mobile genetic elements

Mobile genetic elements (MGEs) are a type of genetic materials that can move around within a genome, or that can be transferred from one species or replicon to another.

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Modern synthesis (20th century)

The modern synthesis was the early 20th-century synthesis reconciling Charles Darwin's theory of evolution and Gregor Mendel's ideas on heredity in a joint mathematical framework.

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Molecular clock

The molecular clock is a technique that uses the mutation rate of biomolecules to deduce the time in prehistory when two or more life forms diverged.

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Motoo Kimura

(November 13, 1924 – November 13, 1994) was a Japanese biologist best known for introducing the neutral theory of molecular evolution in 1968, in collaboration with Tomoko Ohta.

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A mouse (Mus), plural mice, is a small rodent characteristically having a pointed snout, small rounded ears, a body-length scaly tail and a high breeding rate.

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Muller's morphs

Hermann J. Muller (1890–1967), who was a 1946 Nobel Prize winner, coined the terms amorph, hypomorph, hypermorph, antimorph and neomorph to classify mutations based on their behaviour in various genetic situations, as well as gene interaction between themselves.

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Multicellular organism

Multicellular organisms are organisms that consist of more than one cell, in contrast to unicellular organisms.

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Multimodal distribution

In statistics, a bimodal distribution is a continuous probability distribution with two different modes.

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In genetics, a mutagen is a physical or chemical agent that changes the genetic material, usually DNA, of an organism and thus increases the frequency of mutations above the natural background level.

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Mutagenesis is a process by which the genetic information of an organism is changed, resulting in a mutation.

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Mutalyzer is a web-based software tool which was primarily developed to check the description of sequence variants identified in a gene during genetic testing.

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In biology and especially genetics, a mutant is an organism or a new genetic character arising or resulting from an instance of mutation, which is an alteration of the DNA sequence of a gene or chromosome of an organism.

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Mutation rate

In genetics, the mutation rate is the frequency of new mutations in a single gene or organism over time.

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The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide referring to the free amine group (-NH2) located at the end of a polypeptide.

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National Academy of Sciences

The National Academy of Sciences (NAS) is a United States nonprofit, non-governmental organization.

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National Council for Science and the Environment

The National Council for Science and the Environment (NCSE) is a U.S.-based non-profit organization which has a mission to improve the scientific basis for environmental decision-making.

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Natural selection

Natural selection is the differential survival and reproduction of individuals due to differences in phenotype.

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Nature Publishing Group

Nature Publishing Group is a division of the international scientific publishing company Springer Nature that publishes academic journals, magazines, online databases, and services in science and medicine.

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Neutral mutation

Neutral mutations are changes in DNA sequence that are neither beneficial nor detrimental to the ability of an organism to survive and reproduce.

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Neutral theory of molecular evolution

The neutral theory of molecular evolution holds that at the molecular level most evolutionary changes and most of the variation within and between species is not caused by natural selection but by genetic drift of mutant alleles that are neutral.

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Nitrous acid

Nitrous acid (molecular formula HNO2) is a weak and monobasic acid known only in solution and in the form of nitrite salts.

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Non-coding DNA

In genomics and related disciplines, noncoding DNA sequences are components of an organism's DNA that do not encode protein sequences.

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Non-homologous end joining

Non-homologous end joining (NHEJ) is a pathway that repairs double-strand breaks in DNA.

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Non-ionizing radiation

Non-ionizing (or non-ionising) radiation refers to any type of electromagnetic radiation that does not carry enough energy per quantum (photon energy) to ionize atoms or molecules—that is, to completely remove an electron from an atom or molecule.

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Nonsense mutation

In genetics, a point-nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product.

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Nonsynonymous substitution

A nonsynonymous substitution is a nucleotide mutation that alters the amino acid sequence of a protein.

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Nucleic acid analogue

Nucleic acid analogues are compounds which are analogous (structurally similar) to naturally occurring RNA and DNA, used in medicine and in molecular biology research.

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Nucleotides are organic molecules that serve as the monomer units for forming the nucleic acid polymers deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecules within all life-forms on Earth.

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Null allele

A null allele is a nonfunctional copy of a gene caused by a genetic mutation.

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Ochratoxin A

Ochratoxin A—a toxin produced by different Aspergillus and Penicillium species — is one of the most-abundant food-contaminating mycotoxins.

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Oenothera lamarckiana

Oenothera lamarckiana (evening primrose or evening-primrose) is a plant species in family Onagraceae, indigenous to North American Plains (all regions of North America).

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In biology, offspring are the young born of living organisms, produced either by a single organism or, in the case of sexual reproduction, two organisms.

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On the Origin of Species

On the Origin of Species (or more completely, On the Origin of Species by Means of Natural Selection, or the Preservation of Favoured Races in the Struggle for Life),The book's full original title was On the Origin of Species by Means of Natural Selection, or the Preservation of Favoured Races in the Struggle for Life.

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Orange (fruit)

The orange is the fruit of the citrus species ''Citrus'' × ''sinensis'' in the family Rutaceae.

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In biology, an organism (from Greek: ὀργανισμός, organismos) is any individual entity that exhibits the properties of life.

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Orthogenesis, also known as orthogenetic evolution, progressive evolution, evolutionary progress, or progressionism, is the biological hypothesis that organisms have an innate tendency to evolve in a definite direction towards some goal (teleology) due to some internal mechanism or "driving force".

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Out-crossing or out-breeding means that the crossing between different breeds.This is the practice of introducing unrelated genetic material into a breeding line.

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Oxford University Press

Oxford University Press (OUP) is the largest university press in the world, and the second oldest after Cambridge University Press.

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Oxidative stress

Oxidative stress reflects an imbalance between the systemic manifestation of reactive oxygen species and a biological system's ability to readily detoxify the reactive intermediates or to repair the resulting damage.

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Tumor protein p53, also known as p53, cellular tumor antigen p53 (UniProt name), phosphoprotein p53, tumor suppressor p53, antigen NY-CO-13, or transformation-related protein 53 (TRP53), is any isoform of a protein encoded by homologous genes in various organisms, such as TP53 (humans) and Trp53 (mice).

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The Public Broadcasting Service (PBS) is an American public broadcaster and television program distributor.

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Peroxisome proliferator-activated receptor gamma

Peroxisome proliferator-activated receptor gamma (PPAR-γ or PPARG), also known as the glitazone receptor, or NR1C3 (nuclear receptor subfamily 1, group C, member 3) is a type II nuclear receptor that in humans is encoded by the PPARG gene.

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A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).

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Philadelphia chromosome

The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells).

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Phyletic gradualism

Phyletic gradualism is a model of evolution which theorizes that most speciation is slow, uniform and gradual.

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Plasmodium is a genus of unicellular eukaryotes that are obligate parasites of vertebrates and insects.

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PLOS (for Public Library of Science) is a nonprofit open access science, technology and medicine publisher, innovator and advocacy organization with a library of open access journals and other scientific literature under an open content license.

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Point mutation

A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA.

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Polymorphism (biology)

Polymorphism in biology and zoology is the occurrence of two or more clearly different morphs or forms, also referred to as alternative phenotypes, in the population of a species.

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Polyploid cells and organisms are those containing more than two paired (homologous) sets of chromosomes.

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Prions are misfolded proteins that are associated with several fatal neurodegenerative diseases in animals and humans.

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PRNP (PRioN Protein) is the human gene encoding for the major prion protein PrP (for prion protein), also known as CD230 (cluster of differentiation 230).

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Promoter (genetics)

In genetics, a promoter is a region of DNA that initiates transcription of a particular gene.

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Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.

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Protein domain

A protein domain is a conserved part of a given protein sequence and (tertiary) structure that can evolve, function, and exist independently of the rest of the protein chain.

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A purine is a heterocyclic aromatic organic compound that consists of a pyrimidine ring fused to an imidazole ring.

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Pyrimidine is an aromatic heterocyclic organic compound similar to pyridine.

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Pyrimidine dimer

Pyrimidine dimers are molecular lesions formed from thymine or cytosine bases in DNA via photochemical reactions.

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Rats are various medium-sized, long-tailed rodents in the superfamily Muroidea.

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Reading frame

In molecular biology, a reading frame is a way of dividing the sequence of nucleotides in a nucleic acid (DNA or RNA) molecule into a set of consecutive, non-overlapping triplets.

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Red blood cell

Red blood cells-- also known as RBCs, red cells, red blood corpuscles, haematids, erythroid cells or erythrocytes (from Greek erythros for "red" and kytos for "hollow vessel", with -cyte translated as "cell" in modern usage), are the most common type of blood cell and the vertebrate's principal means of delivering oxygen (O2) to the body tissues—via blood flow through the circulatory system.

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Redundancy (engineering)

In engineering, redundancy is the duplication of critical components or functions of a system with the intention of increasing reliability of the system, usually in the form of a backup or fail-safe, or to improve actual system performance, such as in the case of GNSS receivers, or multi-threaded computer processing.

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Reginald Punnett

Reginald Crundall Punnett FRS (20 June 1875 – 3 January 1967) was a British geneticist who co-founded, with William Bateson, the Journal of Genetics in 1910.

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Replication slippage

Replication slippage, otherwise known as slipped-strand mispairing, is a form of mutation that leads to either a trinucleotide or dinucleotide expansion or contraction during DNA replication.

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Replication timing quantitative trait loci

A replication timing quantitative trait loci (or rtQTL) is a genetic variation producing a differential use of replication origins, exhibiting allele-specific effects on replication timing.

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Richard Goldschmidt

Richard Benedict Goldschmidt (April 12, 1878 – April 24, 1958) was a German-born American geneticist.

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Ribonucleic acid (RNA) is a polymeric molecule essential in various biological roles in coding, decoding, regulation, and expression of genes.

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RNA splicing

In molecular biology, splicing is the editing of the nascent precursor messenger RNA (pre-mRNA) transcript into a mature messenger RNA (mRNA).

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RNA virus

An RNA virus is a virus that has RNA (ribonucleic acid) as its genetic material.

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Robertsonian translocation

Robertsonian translocation (ROB) is a rare form of chromosomal rearrangement where the participating chromosomes break at their centromeres and the long arms fuse to form a single, large chromosome with a single centromere.

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Rod cell

Rod cells are photoreceptor cells in the retina of the eye that can function in less intense light than the other type of visual photoreceptor, cone cells.

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Ronald Fisher

Sir Ronald Aylmer Fisher (17 February 1890 – 29 July 1962), who published as R. A. Fisher, was a British statistician and geneticist.

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Royal Society

The President, Council and Fellows of the Royal Society of London for Improving Natural Knowledge, commonly known as the Royal Society, is a learned society.

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Saltation (biology)

In biology, saltation (from Latin, saltus, "leap") is a sudden and large mutational change from one generation to the next, potentially causing single-step speciation.

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Secrets of the Dead

Secrets of the Dead, produced by Thirteen/WNET New York, is an ongoing PBS television series which began in 2000.

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Sequence analysis

In bioinformatics, sequence analysis is the process of subjecting a DNA, RNA or peptide sequence to any of a wide range of analytical methods to understand its features, function, structure, or evolution.

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In genetics and biochemistry, sequencing means to determine the primary structure (sometimes falsely called primary sequence) of an unbranched biopolymer.

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Sewall Wright

Sewall Green Wright (December 21, 1889March 3, 1988) was an American geneticist known for his influential work on evolutionary theory and also for his work on path analysis.

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Organisms of many species are specialized into male and female varieties, each known as a sex. Sexual reproduction involves the combining and mixing of genetic traits: specialized cells known as gametes combine to form offspring that inherit traits from each parent.

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Sexual reproduction

Sexual reproduction is a form of reproduction where two morphologically distinct types of specialized reproductive cells called gametes fuse together, involving a female's large ovum (or egg) and a male's smaller sperm.

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Sickle cell disease

Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.

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Sickle cell trait

Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle-cell disease that occur in a person who has two copies of that allele (is homozygous).

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Signature-tagged mutagenesis

Signature-tagged mutagenesis (STM) is a genetic technique used to study gene function.

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Silent mutation

Silent mutations are mutations in DNA that do not have an observable effect on the organism's phenotype.

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Site-directed mutagenesis

Site-directed mutagenesis is a molecular biology method that is used to make specific and intentional changes to the DNA sequence of a gene and any gene products.

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Slipped strand mispairing

Slipped strand mispairing (SSM), (also known as replication slippage), is a mutation process which occurs during DNA replication.

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Smallpox was an infectious disease caused by one of two virus variants, Variola major and Variola minor.

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Society for the Study of Evolution

The Society for the Study of Evolution is a professional organization of evolutionary biologists.

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Somatic (biology)

The term somatic is often used in biology to refer to the cells of the body in contrast to the germ line cells which usually give rise to the gametes (ovum or sperm).

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Somatic cell

A somatic cell (from the Greek σῶμα sôma, meaning "body") or vegetal cell is any biological cell forming the body of an organism; that is, in a multicellular organism, any cell other than a gamete, germ cell, gametocyte or undifferentiated stem cell.

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Southern Africa

Southern Africa is the southernmost region of the African continent, variably defined by geography or geopolitics, and including several countries.

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Speciation is the evolutionary process by which populations evolve to become distinct species.

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In biology, a species is the basic unit of classification and a taxonomic rank, as well as a unit of biodiversity, but it has proven difficult to find a satisfactory definition.

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Splice site mutation

A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA.

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Springer Science+Business Media

Springer Science+Business Media or Springer, part of Springer Nature since 2015, is a global publishing company that publishes books, e-books and peer-reviewed journals in science, humanities, technical and medical (STM) publishing.

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Stop codon

In the genetic code, a stop codon (or termination codon) is a nucleotide triplet within messenger RNA that signals a termination of translation into proteins.

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Sub-Saharan Africa

Sub-Saharan Africa is, geographically, the area of the continent of Africa that lies south of the Sahara.

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Superoxide dismutase

Superoxide dismutase (SOD) is an enzyme that alternately catalyzes the dismutation (or partitioning) of the superoxide (O2&minus) radical into either ordinary molecular oxygen (O2) or hydrogen peroxide (H2O2).

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Synonymous substitution

A synonymous substitution (often called a silent substitution though they are not always silent) is the evolutionary substitution of one base for another in an exon of a gene coding for a protein, such that the produced amino acid sequence is not modified.

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Tautomers are constitutional isomers of organic compounds that readily interconvert.

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Temperature-sensitive mutant

Temperature sensitive mutants are variants of genes that allow normal function of the organism at low temperatures, but altered function at higher temperatures.

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The Neutral Theory of Molecular Evolution

The Neutral Theory of Molecular Evolution is an influential monograph written in 1983 by Japanese evolutionary biologist Motoo Kimura.

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Thomas Hunt Morgan

Thomas Hunt Morgan (September 25, 1866 – December 4, 1945) was an American evolutionary biologist, geneticist, embryologist, and science author who won the Nobel Prize in Physiology or Medicine in 1933 for discoveries elucidating the role that the chromosome plays in heredity.

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---> Thymine (T, Thy) is one of the four nucleobases in the nucleic acid of DNA that are represented by the letters G–C–A–T.

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TILLING (molecular biology)

TILLING (Targeting Induced Local Lesions in Genomes) is a method in molecular biology that allows directed identification of mutations in a specific gene.

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Tn10 is a transposable element, which is a sequence of DNA that is capable of mediating its own movement from one position in the DNA of the host organism to another.

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Transition (genetics)

In genetics, a transition is a point mutation that changes a purine nucleotide to another purine (A ↔ G) or a pyrimidine nucleotide to another pyrimidine (C ↔ T).

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Translation (biology)

In molecular biology and genetics, translation is the process in which ribosomes in the cytoplasm or ER synthesize proteins after the process of transcription of DNA to RNA in the cell's nucleus.

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Transposable element

A transposable element (TE or transposon) is a DNA sequence that can change its position within a genome, sometimes creating or reversing mutations and altering the cell's genetic identity and genome size.

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Transposon mutagenesis

Transposon mutagenesis, or transposition mutagenesis, is a biological process that allows genes to be transferred to a host organism's chromosome, interrupting or modifying the function of an extant gene on the chromosome and causing mutation.

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Transversion, in molecular biology, refers to the substitution of a (two ring) purine for a (one ring) pyrimidine or vice versa, in deoxyribonucleic acid (DNA).

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Trinucleotide repeat expansion

Trinucleotide repeat expansion, also known as triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder.

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Udny Yule

George Udny Yule FRS (18 February 1871 – 26 June 1951), usually known as Udny Yule, was a British statistician, born at Beech Hill, a house in Morham near Haddington, Scotland and died in Cambridge, England.

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Ultraviolet (UV) is electromagnetic radiation with a wavelength from 10 nm to 400 nm, shorter than that of visible light but longer than X-rays.

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Uniformitarianism, also known as the Doctrine of Uniformity,, "The assumption of spatial and temporal invariance of natural laws is by no means unique to geology since it amounts to a warrant for inductive inference which, as Bacon showed nearly four hundred years ago, is the basic mode of reasoning in empirical science.

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Vesicular stomatitis virus

Vesicular stomatitis Indiana virus (VSIV; often still referred to as VSV) is a virus in the family Rhabdoviridae; the well-known rabies virus belongs to the same family.

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A virus is a small infectious agent that replicates only inside the living cells of other organisms.

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WebMD is an American corporation known primarily as an online publisher of news and information pertaining to human health and well-being.

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Wild type

Wild type (WT) refers to the phenotype of the typical form of a species as it occurs in nature.

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Wiley-Blackwell is the international scientific, technical, medical, and scholarly publishing business of John Wiley & Sons.

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William Bateson

William Bateson (8 August 1861 – 8 February 1926) was an English biologist who was the first person to use the term genetics to describe the study of heredity, and the chief populariser of the ideas of Gregor Mendel following their rediscovery in 1900 by Hugo de Vries and Carl Correns.

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X-rays make up X-radiation, a form of electromagnetic radiation.

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Yeasts are eukaryotic, single-celled microorganisms classified as members of the fungus kingdom.

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Zygosity is the degree of similarity of the alleles for a trait in an organism.

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5-Methylcytosine is a methylated form of the DNA base cytosine that may be involved in the regulation of gene transcription.

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[1] https://en.wikipedia.org/wiki/Mutation

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