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Selection, recombination and population history effects on runs of homozygosity (ROH) in wild red deer (Cervus elaphus)

The distribution of runs of homozygosity (ROH) may be shaped by a number of interacting processes such as selection, recombination and population history, but little is known about the importance of these mechanisms in shaping ROH in wild populations. We combined an empirical dataset of >3000 red...

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Autores principales: Hewett, Anna M., Stoffel, Martin A., Peters, Lucy, Johnston, Susan E., Pemberton, Josephine M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10076382/
https://www.ncbi.nlm.nih.gov/pubmed/36801920
http://dx.doi.org/10.1038/s41437-023-00602-z
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author Hewett, Anna M.
Stoffel, Martin A.
Peters, Lucy
Johnston, Susan E.
Pemberton, Josephine M.
author_facet Hewett, Anna M.
Stoffel, Martin A.
Peters, Lucy
Johnston, Susan E.
Pemberton, Josephine M.
author_sort Hewett, Anna M.
collection PubMed
description The distribution of runs of homozygosity (ROH) may be shaped by a number of interacting processes such as selection, recombination and population history, but little is known about the importance of these mechanisms in shaping ROH in wild populations. We combined an empirical dataset of >3000 red deer genotyped at >35,000 genome-wide autosomal SNPs and evolutionary simulations to investigate the influence of each of these factors on ROH. We assessed ROH in a focal and comparison population to investigate the effect of population history. We investigated the role of recombination using both a physical map and a genetic linkage map to search for ROH. We found differences in ROH distribution between both populations and map types indicating that population history and local recombination rate have an effect on ROH. Finally, we ran forward genetic simulations with varying population histories, recombination rates and levels of selection, allowing us to further interpret our empirical data. These simulations showed that population history has a greater effect on ROH distribution than either recombination or selection. We further show that selection can cause genomic regions where ROH is common, only when the effective population size (N(e)) is large or selection is particularly strong. In populations having undergone a population bottleneck(,) genetic drift can outweigh the effect of selection. Overall, we conclude that in this population, genetic drift resulting from a historical population bottleneck is most likely to have resulted in the observed ROH distribution, with selection possibly playing a minor role.
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spelling pubmed-100763822023-04-07 Selection, recombination and population history effects on runs of homozygosity (ROH) in wild red deer (Cervus elaphus) Hewett, Anna M. Stoffel, Martin A. Peters, Lucy Johnston, Susan E. Pemberton, Josephine M. Heredity (Edinb) Article The distribution of runs of homozygosity (ROH) may be shaped by a number of interacting processes such as selection, recombination and population history, but little is known about the importance of these mechanisms in shaping ROH in wild populations. We combined an empirical dataset of >3000 red deer genotyped at >35,000 genome-wide autosomal SNPs and evolutionary simulations to investigate the influence of each of these factors on ROH. We assessed ROH in a focal and comparison population to investigate the effect of population history. We investigated the role of recombination using both a physical map and a genetic linkage map to search for ROH. We found differences in ROH distribution between both populations and map types indicating that population history and local recombination rate have an effect on ROH. Finally, we ran forward genetic simulations with varying population histories, recombination rates and levels of selection, allowing us to further interpret our empirical data. These simulations showed that population history has a greater effect on ROH distribution than either recombination or selection. We further show that selection can cause genomic regions where ROH is common, only when the effective population size (N(e)) is large or selection is particularly strong. In populations having undergone a population bottleneck(,) genetic drift can outweigh the effect of selection. Overall, we conclude that in this population, genetic drift resulting from a historical population bottleneck is most likely to have resulted in the observed ROH distribution, with selection possibly playing a minor role. Springer International Publishing 2023-02-17 2023-04 /pmc/articles/PMC10076382/ /pubmed/36801920 http://dx.doi.org/10.1038/s41437-023-00602-z Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Hewett, Anna M.
Stoffel, Martin A.
Peters, Lucy
Johnston, Susan E.
Pemberton, Josephine M.
Selection, recombination and population history effects on runs of homozygosity (ROH) in wild red deer (Cervus elaphus)
title Selection, recombination and population history effects on runs of homozygosity (ROH) in wild red deer (Cervus elaphus)
title_full Selection, recombination and population history effects on runs of homozygosity (ROH) in wild red deer (Cervus elaphus)
title_fullStr Selection, recombination and population history effects on runs of homozygosity (ROH) in wild red deer (Cervus elaphus)
title_full_unstemmed Selection, recombination and population history effects on runs of homozygosity (ROH) in wild red deer (Cervus elaphus)
title_short Selection, recombination and population history effects on runs of homozygosity (ROH) in wild red deer (Cervus elaphus)
title_sort selection, recombination and population history effects on runs of homozygosity (roh) in wild red deer (cervus elaphus)
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10076382/
https://www.ncbi.nlm.nih.gov/pubmed/36801920
http://dx.doi.org/10.1038/s41437-023-00602-z
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