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Allele Age
Allele age (or mutation age) is the amount of time elapsed since an allele first appeared due to mutation. Estimating the time at which a certain allele appeared allows researchers to infer patterns of human migration, disease, and natural selection. Allele age can be estimated based on (1) the frequency of the allele in a population and (2) the genetic variation that occurs within different copies of the allele, also known as intra-allelic variation. While either of these methods can be used to estimate allele age, the use of both increases the accuracy of the estimation and can sometimes offer additional information regarding the presence of selection. Estimating allele age based on the allele’s frequency is based on the fact that alleles in high frequency are older than alleles in low frequency (assuming the absence of selection). Of course, many alleles of interest are under some type of selection. Because alleles that are under positive selection can rise to high frequency ve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chromosomal or genomic location of a gene or any other genetic element is called a locus (plural: loci) and alternative DNA sequences at a locus are called alleles." The simplest alleles are single nucleotide polymorphisms (SNP). but they can also be insertions and deletions of up to several thousand base pairs. Popular definitions of 'allele' typically refer only to different alleles within genes. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles (variants). In population genetics, nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. Most alleles observed result in little or no change in the function of the gene product it codes for. However, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In 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). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Natural Selection
Natural selection is the differential survival and reproduction of individuals due to differences in phenotype. It is a key mechanism of evolution, the change in the heritable traits characteristic of a population over generations. Charles Darwin popularised the term "natural selection", contrasting it with selective breeding, artificial selection, which in his view is intentional, whereas natural selection is not. Genetic diversity, Variation exists within all populations of organisms. This occurs partly because random mutations arise in the genome of an individual organism, and their offspring can inherit such mutations. Throughout the lives of the individuals, their genomes interact with their environments to cause variations in traits. The environment of a genome includes the molecular biology in the Cell (biology), cell, other cells, other individuals, populations, species, as well as the abiotic environment. Because individuals with certain variants of the trait tend ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Flow
In population genetics, gene flow (also known as gene migration or geneflow and allele flow) is the transfer of genetic material from one population to another. If the rate of gene flow is high enough, then two populations will have equivalent allele frequencies and therefore can be considered a single effective population. It has been shown that it takes only "one migrant per generation" to prevent populations from diverging due to drift. Populations can diverge due to selection even when they are exchanging alleles, if the selection pressure is strong enough. Gene flow is an important mechanism for transferring genetic diversity among populations. Migrants change the distribution of genetic diversity among populations, by modifying allele frequencies (the proportion of members carrying a particular variant of a gene). High rates of gene flow can reduce the genetic differentiation between the two groups, increasing homogeneity. For this reason, gene flow has been thought to con ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Drift
Genetic drift, also known as allelic drift or the Wright effect, is the change in the frequency of an existing gene variant (allele) in a population due to random chance. Genetic drift may cause gene variants to disappear completely and thereby reduce genetic variation. It can also cause initially rare alleles to become much more frequent and even fixed. When few copies of an allele exist, the effect of genetic drift is more notable, and when many copies exist, the effect is less notable. In the middle of the 20th century, vigorous debates occurred over the relative importance of natural selection versus neutral processes, including genetic drift. Ronald Fisher, who explained natural selection using Mendelian genetics, held the view that genetic drift plays at most a minor role in evolution, and this remained the dominant view for several decades. In 1968, population geneticist Motoo Kimura rekindled the debate with his neutral theory of molecular evolution, which claims that ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Linkage Disequilibrium
In population genetics, linkage disequilibrium (LD) is the non-random association of alleles at different loci in a given population. Loci are said to be in linkage disequilibrium when the frequency of association of their different alleles is higher or lower than what would be expected if the loci were independent and associated randomly. Linkage disequilibrium is influenced by many factors, including selection, the rate of genetic recombination, mutation rate, genetic drift, the system of mating, population structure, and genetic linkage. As a result, the pattern of linkage disequilibrium in a genome is a powerful signal of the population genetic processes that are structuring it. In spite of its name, linkage disequilibrium may exist between alleles at different loci without any genetic linkage between them and independently of whether or not allele frequencies are in equilibrium (not changing with time). Furthermore, linkage disequilibrium is sometimes referred to as gamet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TMRCA
In biology and genetic genealogy, the most recent common ancestor (MRCA), also known as the last common ancestor (LCA) or concestor, of a set of organisms is the most recent individual from which all the organisms of the set are Common descent, descended. The term is also used in reference to the ancestry of groups of genes (haplotypes) rather than organisms. The MRCA of a set of individuals can sometimes be determined by referring to an established pedigree chart, pedigree. However, in general, it is impossible to identify the exact MRCA of a large set of individuals, but an estimate of the time at which the MRCA lived can often be given. Such ''time to most recent common ancestor'' (''TMRCA'') estimates can be given based on DNA test results and established mutation rates as practiced in genetic genealogy, or by reference to a non-genetic, mathematical model or computer simulation. In organisms using sexual reproduction, the ''matrilineal MRCA'' and ''patrilineal MRCA'' are th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haplotype
A haplotype ( haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. Many organisms contain genetic material ( DNA) which is inherited from two parents. Normally these organisms have their DNA organized in two sets of pairwise similar chromosomes. The offspring gets one chromosome in each pair from each parent. A set of pairs of chromosomes is called diploid and a set of only one half of each pair is called haploid. The haploid genotype (haplotype) is a genotype that considers the singular chromosomes rather than the pairs of chromosomes. It can be all the chromosomes from one of the parents or a minor part of a chromosome, for example a sequence of 9000 base pairs. However, there are other uses of this term. First, it is used to mean a collection of specific alleles (that is, specific DNA sequences) in a cluster of tightly linked genes on a chromosome that are likely to be inherited together—that is, they are likely to be con ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Composite Likelihood
In statistics a quasi-maximum likelihood estimate (QMLE), also known as a pseudo-likelihood estimate or a composite likelihood estimate, is an estimate of a parameter ''θ'' in a statistical model that is formed by maximizing a function that is related to the logarithm of the likelihood function, but in discussing the consistency and (asymptotic) variance-covariance matrix, we assume some parts of the distribution may be mis-specified. In contrast, the maximum likelihood estimate maximizes the actual log likelihood function for the data and model. The function that is maximized to form a QMLE is often a simplified form of the actual log likelihood function. A common way to form such a simplified function is to use the log-likelihood function of a misspecified model that treats certain data values as being independent, even when in actuality they may not be. This removes any parameters from the model that are used to characterize these dependencies. Doing this only makes sense if ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
1000 Genomes Project
The 1000 Genomes Project (abbreviated as 1KGP), launched in January 2008, was an international research effort to establish by far the most detailed catalogue of human genetic variation. Scientists planned to sequence the genomes of at least one thousand anonymous participants from a number of different ethnic groups within the following three years, using newly developed technologies which were faster and less expensive. In 2010, the project finished its pilot phase, which was described in detail in a publication in the journal ''Nature''. In 2012, the sequencing of 1092 genomes was announced in a ''Nature'' publication. In 2015, two papers in ''Nature'' reported results and the completion of the project and opportunities for future research. Many rare variations, restricted to closely related groups, were identified, and eight structural-variation classes were analyzed. The project unites multidisciplinary research teams from institutes around the world, including China, Ita ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Simons Genome Diversity Project
Simons is a surname of Scandinavian origins and a variant of Sigmundsson, a patronymic surname with roots in proto-Germanic ''*segaz'' and ''*mundō'', giving a rough translation of "protection through victory". Notable people A * Alan Simons (born 1968), Welsh goalkeeper * Alexandra Simons de Ridder (born 1963), German equestrian * Algie Martin Simons (1870–1950), American socialist journalist, newspaper editor and political activist * Andra Simons, Bermudian writer * Ann Simons (born 1980), Belgian judoka * Arthur D. Simons (1918–1979), U.S. Army Special Forces officer B * Barbara Simons (born 1941), American computer scientist * Benjamin Simons, British theoretical physicist * Billy Simons (born 1983), American singer C * Carlos Simons (born 1954), Turks and Caicos Islands lawyer * Charles Simons (footballer) (1906–1979), Belgian footballer * Charles Casper Simons (1876–1964), American judge * Charles Earl Simons, Jr. (1916–1999), American judge * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Motoo Kimura
(November 13, 1924 – November 13, 1994) was a Japanese biologist best known for introducing the neutral theory of molecular evolution in 1968. He became one of the most influential theoretical population geneticists. He is remembered in genetics for his innovative use of diffusion equations to calculate the probability of fixation of beneficial, deleterious, or neutral alleles. Combining theoretical population genetics with molecular evolution data, he also developed the neutral theory of molecular evolution in which genetic drift is the main force changing allele frequencies. James F. Crow, himself a renowned population geneticist, considered Kimura to be one of the two greatest evolutionary geneticists, along with Gustave Malécot, after the great trio of the modern synthesis, Ronald Fisher, J. B. S. Haldane, and Sewall Wright. Life and work Kimura was born in Okazaki, Aichi Prefecture. From an early age he was very interested in botany, though he also excelled at mathemat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
