Identifying signatures of positive selection in human populations from North Africa

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  • dc.contributor.author Caro Consuegra, Rocio
  • dc.contributor.author Lucas Sánchez, Marcel
  • dc.contributor.author Comas, David, 1969-
  • dc.contributor.author Bosch Fusté, Elena
  • dc.date.accessioned 2023-06-14T13:47:30Z
  • dc.date.available 2023-06-14T13:47:30Z
  • dc.date.issued 2023
  • dc.description.abstract Because of its location, North Africa (NA) has witnessed continuous demographic movements with an impact on the genomes of present-day human populations. Genomic data describe a complex scenario with varying proportions of at least four main ancestry components: Maghrebi, Middle Eastern-, European-, and West-and-East-African-like. However, the footprint of positive selection in NA has not been studied. Here, we compile genome-wide genotyping data from 190 North Africans and individuals from surrounding populations, investigate for signatures of positive selection using allele frequencies and linkage disequilibrium-based methods and infer ancestry proportions to discern adaptive admixture from post-admixture selection events. Our results show private candidate genes for selection in NA involved in insulin processing (KIF5A), immune function (KIF5A, IL1RN, TLR3), and haemoglobin phenotypes (BCL11A). We also detect signatures of positive selection related to skin pigmentation (SLC24A5, KITLG), and immunity function (IL1R1, CD44, JAK1) shared with European populations and candidate genes associated with haemoglobin phenotypes (HPSE2, HBE1, HBG2), other immune-related (DOCK2) traits, and insulin processing (GLIS3) traits shared with West and East African populations. Finally, the SLC8A1 gene, which codifies for a sodium-calcium exchanger, was the only candidate identified under post-admixture selection in Western NA.
  • dc.description.sponsorship This work was supported by Agencia Estatal de Investigación (AEI; DOI: https://doi.org/10.13039/501100011033), Fondo Europeo de Desarrollo Regional (FEDER) and Ministerio de Ciencia e Innovación (MCIN) with project grants PID2019-110933GB-I00, PID2019-106485GB-I00 and Unidad de Excelencia María de Maeztu CEX2018-000792-M; and by Direcció General de Recerca, Generalitat de Catalunya (2017SGR00702).
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Caro-Consuegra R, Lucas-Sánchez M, Comas D, Bosch E. Identifying signatures of positive selection in human populations from North Africa. Sci Rep. 2023 May 20;13(1):8166. DOI: 10.1038/s41598-023-35312-3
  • dc.identifier.doi http://dx.doi.org/10.1038/s41598-023-35312-3
  • dc.identifier.issn 2045-2322
  • dc.identifier.uri http://hdl.handle.net/10230/57165
  • dc.language.iso eng
  • dc.publisher Nature Research
  • dc.relation.ispartof Sci Rep. 2023 May 20;13(1):8166
  • dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/PID2019-110933GB-I00
  • dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/PID2019-106485GB-I00
  • dc.rights © The Author(s) 2023. 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 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/.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword Evolution
  • dc.subject.keyword Genetics
  • dc.title Identifying signatures of positive selection in human populations from North Africa
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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