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The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans

BACKGROUND: Recombination maps are  important resources for epidemiological and evolutionary analyses; however, there are currently no recombination maps representing any African population outside of those with West African ancestry. We infer the demographic history for the Nama, an indigenous Khoe...

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Autores principales: van Eeden, Gerald, Uren, Caitlin, Pless, Evlyn, Mastoras, Mira, van der Spuy, Gian D., Tromp, Gerard, Henn, Brenna M., Möller, Marlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9361568/
https://www.ncbi.nlm.nih.gov/pubmed/35945619
http://dx.doi.org/10.1186/s13059-022-02744-5
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author van Eeden, Gerald
Uren, Caitlin
Pless, Evlyn
Mastoras, Mira
van der Spuy, Gian D.
Tromp, Gerard
Henn, Brenna M.
Möller, Marlo
author_facet van Eeden, Gerald
Uren, Caitlin
Pless, Evlyn
Mastoras, Mira
van der Spuy, Gian D.
Tromp, Gerard
Henn, Brenna M.
Möller, Marlo
author_sort van Eeden, Gerald
collection PubMed
description BACKGROUND: Recombination maps are  important resources for epidemiological and evolutionary analyses; however, there are currently no recombination maps representing any African population outside of those with West African ancestry. We infer the demographic history for the Nama, an indigenous Khoe-San population of southern Africa, and derive a novel, population-specific recombination map from the whole genome sequencing of 54 Nama individuals. We hypothesise that there are no publicly available recombination maps representative of the Nama, considering the deep population divergence and subsequent isolation of the Khoe-San from other African groups. RESULTS: We show that the recombination landscape of the Nama does not cluster with any continental groups with publicly available representative recombination maps. Finally, we use selection scans as an example of how fine-scale differences between the Nama recombination map and the combined Phase II HapMap recombination map can impact the outcome of selection scans. CONCLUSIONS: Fine-scale differences in recombination can meaningfully alter the results of a selection scan. The recombination map we infer likely represents an upper bound on the extent of divergence we expect to see for a recombination map in humans and would be of interest to any researcher that wants to test the sensitivity of population genetic or GWAS analysis to recombination map input. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-022-02744-5.
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spelling pubmed-93615682022-08-10 The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans van Eeden, Gerald Uren, Caitlin Pless, Evlyn Mastoras, Mira van der Spuy, Gian D. Tromp, Gerard Henn, Brenna M. Möller, Marlo Genome Biol Research BACKGROUND: Recombination maps are  important resources for epidemiological and evolutionary analyses; however, there are currently no recombination maps representing any African population outside of those with West African ancestry. We infer the demographic history for the Nama, an indigenous Khoe-San population of southern Africa, and derive a novel, population-specific recombination map from the whole genome sequencing of 54 Nama individuals. We hypothesise that there are no publicly available recombination maps representative of the Nama, considering the deep population divergence and subsequent isolation of the Khoe-San from other African groups. RESULTS: We show that the recombination landscape of the Nama does not cluster with any continental groups with publicly available representative recombination maps. Finally, we use selection scans as an example of how fine-scale differences between the Nama recombination map and the combined Phase II HapMap recombination map can impact the outcome of selection scans. CONCLUSIONS: Fine-scale differences in recombination can meaningfully alter the results of a selection scan. The recombination map we infer likely represents an upper bound on the extent of divergence we expect to see for a recombination map in humans and would be of interest to any researcher that wants to test the sensitivity of population genetic or GWAS analysis to recombination map input. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-022-02744-5. BioMed Central 2022-08-09 /pmc/articles/PMC9361568/ /pubmed/35945619 http://dx.doi.org/10.1186/s13059-022-02744-5 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
van Eeden, Gerald
Uren, Caitlin
Pless, Evlyn
Mastoras, Mira
van der Spuy, Gian D.
Tromp, Gerard
Henn, Brenna M.
Möller, Marlo
The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans
title The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans
title_full The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans
title_fullStr The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans
title_full_unstemmed The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans
title_short The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans
title_sort recombination landscape of the khoe-san likely represents the upper limits of recombination divergence in humans
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9361568/
https://www.ncbi.nlm.nih.gov/pubmed/35945619
http://dx.doi.org/10.1186/s13059-022-02744-5
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