Mutations in the context of "Pyrimidine dimer"

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⭐ Core Definition: Mutations

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 substitution, 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 of all genetic variation, providing the raw material on which evolutionary forces such as natural selection can act.

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Mutations in the context of Evolutionary robotics

Evolutionary robotics is an embodied approach to Artificial Intelligence (AI) in which robots are automatically designed using Darwinian principles of natural selection. The design of a robot, or a subsystem of a robot such as a neural controller, is optimized against a behavioral goal (e.g. run as fast as possible). Usually, designs are evaluated in simulations as fabricating thousands or millions of designs and testing them in the real world is prohibitively expensive in terms of time, money, and safety.

An evolutionary robotics experiment starts with a population of randomly generated robot designs. The worst performing designs are discarded and replaced with mutations and/or combinations of the better designs. This evolutionary algorithm continues until a prespecified amount of time elapses or some target performance metric is surpassed.

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Mutations in the context of Genetic divergence

Genetic divergence is the process in which two or more populations of an ancestral species accumulate independent genetic changes (mutations) through time, often leading to reproductive isolation and continued mutation even after the populations have become reproductively isolated for some period of time, as there is not any genetic exchange anymore. In some cases, subpopulations cover living in ecologically distinct peripheral environments can exhibit genetic divergence from the remainder of a population, especially where the range of a population is very large (see parapatric speciation). The genetic differences among divergent populations can involve silent mutations (that have no effect on the phenotype) or give rise to significant morphological and/or physiological changes. Genetic divergence will always accompany reproductive isolation, either due to novel adaptations via selection and/or due to genetic drift, and is the principal mechanism underlying speciation.

On a molecular genetics level, genetic divergence is due to changes in a small number of genes in a species, resulting in speciation. However, researchers argue that it is unlikely that divergence is a result of a significant, single, dominant mutation in a genetic locus because if that were so, the individual with that mutation would have zero fitness. Consequently, they could not reproduce and pass the mutation on to further generations. Hence, it is more likely that divergence, and subsequently reproductive isolation, are the outcomes of multiple small mutations over evolutionary time accumulating in a population isolated from gene flow.

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Mutations in the context of Wild type

The wild type (WT) is the phenotype of the typical form of a species as it occurs in nature. Originally, the wild type was conceptualized as a product of the standard "normal" allele at a locus, in contrast to that produced by a non-standard, "mutant" allele. "Mutant" alleles can vary to a great extent, and even become the wild type if a genetic shift occurs within the population. Continued advancements in genetic mapping technologies have created a better understanding of how mutations occur and interact with other genes to alter phenotype. It is now regarded that most or all gene loci exist in a variety of allelic forms, which vary in frequency throughout the geographic range of a species, and that a uniform wild type does not exist. In general, however, the most prevalent allele – i.e., the one with the highest gene frequency – is the one deemed wild type.

The concept of wild type is useful in some experimental organisms such as fruit flies Drosophila melanogaster, in which the standard phenotypes for features such as eye color or wing shape are altered by particular mutations that produce distinctive phenotypes, such as "white eyes" or "vestigial wings". Wild-type alleles are indicated with a "+" superscript, for example w and vg for red eyes and full-size wings, respectively. Manipulation of the genes behind these traits led to the current understanding of how organisms form and how traits mutate within a population. Research involving the manipulation of wild-type alleles has application in many fields, including fighting disease and commercial food production.

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Mutations in the context of Plant reproduction

Plants may reproduce sexually or asexually. Sexual reproduction produces offspring by the fusion of gametes, resulting in offspring genetically different from either parent. Vegetative reproduction produces new individuals without the fusion of gametes, resulting in clonal plants that are genetically identical to the parent plant and each other, unless mutations occur. In asexual reproduction, only one parent is involved.

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Mutations in the context of Human Y-chromosome DNA haplogroup

In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by specific mutations in the non-recombining portions of DNA on the male-specific Y chromosome (Y-DNA). Individuals within a haplogroup share similar numbers of short tandem repeats (STRs) and single-nucleotide polymorphisms (SNPs). The Y-chromosome accumulates approximately two mutations per generation, and Y-DNA haplogroups represent significant branches of the Y-chromosome phylogenetic tree, each characterized by hundreds or even thousands of unique mutations.

The Y-chromosomal most recent common ancestor (Y-MRCA), often referred to as Y-chromosomal Adam, is the most recent common ancestor from whom all currently living humans are descended patrilineally. Y-chromosomal Adam is estimated to have lived around 236,000 years ago in Africa. By examining other population bottlenecks, most Eurasian men trace their descent from a man who lived in Africa approximately 69,000 years ago (Haplogroup CT). Although Southeast Asia has been proposed as the origin for all non-African human Y chromosomes, this hypothesis is considered unlikely. Other bottlenecks occurred roughly 50,000 and 5,000 years ago, and the majority of Eurasian men are believed to be descended from four ancestors who lived 50,000 years ago, all of whom were descendants of an African lineage (Haplogroup E-M168).

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Mutations in the context of Mutation rate

In genetics, the mutation rate is the frequency of new mutations in a single gene, nucleotide sequence, 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 that are changes to a single base. Missense, nonsense, and synonymous mutations are three subtypes of point mutations. The rate of these types of substitutions can be further subdivided into a mutation spectrum, which describes the influence of the genetic context on the mutation rate.

There are several natural units of time for each of these rates, with rates being characterized either as mutations per base pair per cell division, per gene per generation, or genome per generation. The mutation rate of an organism is an evolved characteristic and is strongly influenced by the genetics of each organism, in addition to a strong influence from the environment. The upper and lower limits to which mutation rates can evolve is the subject of ongoing investigation. However, the mutation rate does vary over the genome.

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