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Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species

Short tandem repeats (STRs) are units of 1–6 bp that repeat in a tandem fashion in DNA. Along with single nucleotide polymorphisms and large structural variations, they are among the major genomic variants underlying genetic, and likely phenotypic, divergence. STRs experience mutation rates that are...

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Autores principales: Verbiest, Max, Maksimov, Mikhail, Jin, Ye, Anisimova, Maria, Gymrek, Melissa, Bilgin Sonay, Tugce
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990875/
https://www.ncbi.nlm.nih.gov/pubmed/36289560
http://dx.doi.org/10.1111/jeb.14106
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author Verbiest, Max
Maksimov, Mikhail
Jin, Ye
Anisimova, Maria
Gymrek, Melissa
Bilgin Sonay, Tugce
author_facet Verbiest, Max
Maksimov, Mikhail
Jin, Ye
Anisimova, Maria
Gymrek, Melissa
Bilgin Sonay, Tugce
author_sort Verbiest, Max
collection PubMed
description Short tandem repeats (STRs) are units of 1–6 bp that repeat in a tandem fashion in DNA. Along with single nucleotide polymorphisms and large structural variations, they are among the major genomic variants underlying genetic, and likely phenotypic, divergence. STRs experience mutation rates that are orders of magnitude higher than other well‐studied genotypic variants. Frequent copy number changes result in a wide range of alleles, and provide unique opportunities for modulating complex phenotypes through variation in repeat length. While classical studies have identified key roles of individual STR loci, the advent of improved sequencing technology, high‐quality genome assemblies for diverse species, and bioinformatics methods for genome‐wide STR analysis now enable more systematic study of STR variation across wide evolutionary ranges. In this review, we explore mutation and selection processes that affect STR copy number evolution, and how these processes give rise to varying STR patterns both within and across species. Finally, we review recent examples of functional and adaptive changes linked to STRs.
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spelling pubmed-99908752023-03-08 Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species Verbiest, Max Maksimov, Mikhail Jin, Ye Anisimova, Maria Gymrek, Melissa Bilgin Sonay, Tugce J Evol Biol Reviews Short tandem repeats (STRs) are units of 1–6 bp that repeat in a tandem fashion in DNA. Along with single nucleotide polymorphisms and large structural variations, they are among the major genomic variants underlying genetic, and likely phenotypic, divergence. STRs experience mutation rates that are orders of magnitude higher than other well‐studied genotypic variants. Frequent copy number changes result in a wide range of alleles, and provide unique opportunities for modulating complex phenotypes through variation in repeat length. While classical studies have identified key roles of individual STR loci, the advent of improved sequencing technology, high‐quality genome assemblies for diverse species, and bioinformatics methods for genome‐wide STR analysis now enable more systematic study of STR variation across wide evolutionary ranges. In this review, we explore mutation and selection processes that affect STR copy number evolution, and how these processes give rise to varying STR patterns both within and across species. Finally, we review recent examples of functional and adaptive changes linked to STRs. John Wiley and Sons Inc. 2022-10-26 2023-02 /pmc/articles/PMC9990875/ /pubmed/36289560 http://dx.doi.org/10.1111/jeb.14106 Text en © 2022 The Authors. Journal of Evolutionary Biology published by John Wiley & Sons Ltd on behalf of European Society for Evolutionary Biology. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Reviews
Verbiest, Max
Maksimov, Mikhail
Jin, Ye
Anisimova, Maria
Gymrek, Melissa
Bilgin Sonay, Tugce
Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species
title Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species
title_full Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species
title_fullStr Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species
title_full_unstemmed Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species
title_short Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species
title_sort mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species
topic Reviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990875/
https://www.ncbi.nlm.nih.gov/pubmed/36289560
http://dx.doi.org/10.1111/jeb.14106
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