Hotspots of Human Mutation
| Autor: | Alex V. Nesta, Christine R. Beck, Denisse Tafur |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Genetics
DNA Replication Recombination Genetic 0303 health sciences DNA repair Genome Human DNA replication Genomics Biology Genome Polymorphism Single Nucleotide Article Structural variation 03 medical and health sciences 0302 clinical medicine Mutation (genetic algorithm) Genomic Structural Variation Mutation Humans Human genome Indel Homologous recombination 030217 neurology & neurosurgery 030304 developmental biology |
| Zdroj: | Trends in genetics : TIG |
| ISSN: | 0168-9525 |
| Popis: | Mutation of the human genome results in three classes of genomic variation: single nucleotide variants; short insertions or deletions; and large structural variants (SVs). Some mutations occur during normal processes, such as meiotic recombination or B cell development, and others result from DNA replication or aberrant repair of breaks in sequence-specific contexts. Regardless of mechanism, mutations are subject to selection, and some hotspots can manifest in disease. Here, we discuss genomic regions prone to mutation, mechanisms contributing to mutation susceptibility, and the processes leading to their accumulation in normal and somatic genomes. With further, more accurate human genome sequencing, additional mutation hotspots, mechanistic details of their formation, and the relevance of hotspots to evolution and disease are likely to be discovered. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect