Hotspots of Human Mutation.
Trends in genetics : TIG
JGM, DNA Replication, Genome, Human, Genomic Structural Variation, Genomics, Humans, Mutation, Polymorphism, Single Nucleotide, Recombination, Genetic
Trends Genet 2021 Aug; 37(8):717-729
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.
Nesta, Alex V; Tafur, Denisse; and Beck, Christine R, "Hotspots of Human Mutation." (2021). Faculty Research 2021. 215.