MutationIn biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis).
Mutation rateIn genetics, the mutation rate is the frequency of new mutations in a single gene or organism over time. Mutation rates are not constant and are not limited to a single type of mutation; there are many different types of mutations. Mutation rates are given for specific classes of mutations. Point mutations are a class of mutations which are changes to a single base. Missense and Nonsense mutations are two subtypes of point mutations.
Ubiquitin ligaseA ubiquitin ligase (also called an E3 ubiquitin ligase) is a protein that recruits an E2 ubiquitin-conjugating enzyme that has been loaded with ubiquitin, recognizes a protein substrate, and assists or directly catalyzes the transfer of ubiquitin from the E2 to the protein substrate. In simple and more general terms, the ligase enables movement of ubiquitin from a ubiquitin carrier to another thing (the substrate) by some mechanism. The ubiquitin, once it reaches its destination, ends up being attached by an isopeptide bond to a lysine residue, which is part of the target protein.
Frameshift mutationA 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. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein.
RING finger domainIn molecular biology, a RING (short for Really Interesting New Gene) finger domain is a protein structural domain of zinc finger type which contains a C3HC4 amino acid motif which binds two zinc cations (seven cysteines and one histidine arranged non-consecutively). This protein domain contains 40 to 60 amino acids. Many proteins containing a RING finger play a key role in the ubiquitination pathway.
UbiquitinUbiquitin is a small (8.6 kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e., it is found ubiquitously. It was discovered in 1975 by Gideon Goldstein and further characterized throughout the late 1970s and 1980s. Four genes in the human genome code for ubiquitin: UBB, UBC, UBA52 and RPS27A. The addition of ubiquitin to a substrate protein is called ubiquitylation (or, alternatively, ubiquitination or ubiquitinylation).
Missense mutationIn 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. It is a type of nonsynonymous substitution. Missense mutation refers to a change in one amino acid in a protein, arising from a point mutation in a single nucleotide. Missense mutation is a type of nonsynonymous substitution in a DNA sequence.
Point mutationA point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. Point mutations have a variety of effects on the downstream protein product—consequences that are moderately predictable based upon the specifics of the mutation. These consequences can range from no effect (e.g. synonymous mutations) to deleterious effects (e.g. frameshift mutations), with regard to protein production, composition, and function.
Integral domainIn mathematics, specifically abstract algebra, an integral domain is a nonzero commutative ring in which the product of any two nonzero elements is nonzero. Integral domains are generalizations of the ring of integers and provide a natural setting for studying divisibility. In an integral domain, every nonzero element a has the cancellation property, that is, if a ≠ 0, an equality ab = ac implies b = c. "Integral domain" is defined almost universally as above, but there is some variation.
Dedekind domainIn abstract algebra, a Dedekind domain or Dedekind ring, named after Richard Dedekind, is an integral domain in which every nonzero proper ideal factors into a product of prime ideals. It can be shown that such a factorization is then necessarily unique up to the order of the factors. There are at least three other characterizations of Dedekind domains that are sometimes taken as the definition: see below. A field is a commutative ring in which there are no nontrivial proper ideals, so that any field is a Dedekind domain, however in a rather vacuous way.
Anaphase-promoting complexAnaphase-promoting complex (also called the cyclosome or APC/C) is an E3 ubiquitin ligase that marks target cell cycle proteins for degradation by the 26S proteasome. The APC/C is a large complex of 11–13 subunit proteins, including a cullin (Apc2) and RING (Apc11) subunit much like SCF. Other parts of the APC/C have unknown functions but are highly conserved. It was the discovery of the APC/C (and SCF) and their key role in eukaryotic cell-cycle regulation that established the importance of ubiquitin-mediated proteolysis in cell biology.
Nonsense mutationIn genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in leading to a truncated, incomplete, and nonfunctional protein product. Nonsense mutation is not always harmful, the functional effect of a nonsense mutation depends on many aspects, such as the location of the stop codon within the coding DNA. For example, the effect of a nonsense mutation depends on the proximity of the nonsense mutation to the original stop codon, and the degree to which functional subdomains of the protein are affected.
Unique factorization domainIn mathematics, a unique factorization domain (UFD) (also sometimes called a factorial ring following the terminology of Bourbaki) is a ring in which a statement analogous to the fundamental theorem of arithmetic holds. Specifically, a UFD is an integral domain (a nontrivial commutative ring in which the product of any two non-zero elements is non-zero) in which every non-zero non-unit element can be written as a product of prime elements (or irreducible elements), uniquely up to order and units.
Prüfer domainIn mathematics, a Prüfer domain is a type of commutative ring that generalizes Dedekind domains in a non-Noetherian context. These rings possess the nice ideal and module theoretic properties of Dedekind domains, but usually only for finitely generated modules. Prüfer domains are named after the German mathematician Heinz Prüfer. The ring of entire functions on the open complex plane form a Prüfer domain. The ring of integer valued polynomials with rational coefficients is a Prüfer domain, although the ring of integer polynomials is not .
Germline mutationA germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). Mutations in these cells are the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote. After this fertilization event occurs, germ cells divide rapidly to produce all of the cells in the body, causing this mutation to be present in every somatic and germline cell in the offspring; this is also known as a constitutional mutation.
DiseaseA disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergies, and autoimmune disorders.
Domain (ring theory)In algebra, a domain is a nonzero ring in which ab = 0 implies a = 0 or b = 0. (Sometimes such a ring is said to "have the zero-product property".) Equivalently, a domain is a ring in which 0 is the only left zero divisor (or equivalently, the only right zero divisor). A commutative domain is called an integral domain. Mathematical literature contains multiple variants of the definition of "domain". The ring is not a domain, because the images of 2 and 3 in this ring are nonzero elements with product 0.
MutationismMutationism is one of several alternatives to evolution by natural selection that have existed both before and after the publication of Charles Darwin's 1859 book On the Origin of Species. In the theory, mutation was the source of novelty, creating new forms and new species, potentially instantaneously, in sudden jumps. This was envisaged as driving evolution, which was thought to be limited by the supply of mutations. Before Darwin, biologists commonly believed in saltationism, the possibility of large evolutionary jumps, including immediate speciation.
Atomic domainIn mathematics, more specifically ring theory, an atomic domain or factorization domain is an integral domain in which every non-zero non-unit can be written in at least one way as a finite product of irreducible elements. Atomic domains are different from unique factorization domains in that this decomposition of an element into irreducibles need not be unique; stated differently, an irreducible element is not necessarily a prime element. Important examples of atomic domains include the class of all unique factorization domains and all Noetherian domains.
Genetic linkageGenetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Two genetic markers that are physically near to each other are unlikely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be more linked than markers that are far apart. In other words, the nearer two genes are on a chromosome, the lower the chance of recombination between them, and the more likely they are to be inherited together.
