African signatures of recent positive selection in human FOXI1

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• dc.contributor.author Moreno Estrada, Andrésca
• dc.contributor.author Aparicio i Prat, Estel, 1986-ca
• dc.contributor.author Sikora, Martin, 1976-ca
• dc.contributor.author Engelken, Johannesca
• dc.contributor.author Ramírez Soriano, Annaca
• dc.contributor.author Calafell i Majó, Francescca
• dc.contributor.author Bosch Fusté, Elenaca
• dc.date.accessioned 2011-07-12T07:04:19Z
• dc.date.available 2011-07-12T07:04:19Z
• dc.date.issued 2010ca
• dc.description.abstract Background: The human FOXI1 gene codes for a transcription factor involved in the physiology of the inner ear, testis, and kidney. Using three interspecies comparisons, it has been suggested that this may be a gene under/nhuman-specific selection. We sought to confirm this finding by using an extended set of orthologous sequences./nAdditionally, we explored for signals of natural selection within humans by sequencing the gene in 20 Europeans,/n20 East Asians and 20 Yorubas and by analysing SNP variation in a 2 Mb region centered on FOXI1 in 39/nworldwide human populations from the HGDP-CEPH diversity panel./nResults: The genome sequences recently available from other primate and non-primate species showed that FOXI1/ndivergence patterns are compatible with neutral evolution. Sequence-based neutrality tests were not significant in/nEuropeans, East Asians or Yorubas. However, the Long Range Haplotype (LRH) test, as well as the iHS and XP-Rsb/nstatistics revealed significantly extended tracks of homozygosity around FOXI1 in Africa, suggesting a recent/nepisode of positive selection acting on this gene. A functionally relevant SNP, as well as several SNPs either on the/nputatively selected core haplotypes or with significant iHS or XP-Rsb values, displayed allele frequencies strongly/ncorrelated with the absolute geographical latitude of the populations sampled./nConclusions: We present evidence for recent positive selection in the FOXI1 gene region in Africa. Climate might/nbe related to this recent adaptive event in humans. Of the multiple functions of FOXI1, its role in kidney-mediated/nwater-electrolyte homeostasis is the most obvious candidate for explaining a climate-related adaptation.
• dc.description.sponsorship This research was funded by grant BFU2005-00243 awarded by Dirección General de Investigación, Ministerio de Educación y Ciencia (Spain), by grant BFU2008-01046/BMC awarded by Subdirección General de Proyectos de Investigación, Ministerio de Ciencia e Innovación (Spain), and by the Direcció General de Recerca, Generalitat de Catalunya (2009SGR1101). AME was supported by a CONACYT fellowship from the Mexican government (grant 179339), MS by a PhD fellowship from the Programa de becas FPU del Ministerio de Educación y Ciencia, Spain (AP2005-3982) and JE by a Volkswagenstiftung scholarship (I/82 750). SNP genotyping services were provided by the Spanish “Centro Nacional de Genotipado” (http://www.cegen.org).
• dc.format.mimetype application/pdfca
• dc.identifier.citation Moreno-Estrada A, Aparicio-Prat E, Sikora M, Engelken J, Ramírez-Soriano A, Calafell F et al. African signatures of recent positive selection in human FOXI1. BMC Evol Biol. 2010;10:267. DOI: 10.1186/1471-2148-10-267
• dc.identifier.doi http://dx.doi.org/10.1186/1471-2148-10-267
• dc.identifier.issn 1471-2148
• dc.identifier.uri http://hdl.handle.net/10230/12403
• dc.language.iso engca
• dc.publisher BioMed Centralca
• dc.relation.ispartof BMC Evolutionary Biology. 2010;10:267
• dc.relation.projectID info:eu-repo/grantAgreement/ES/2PN/BFU2005-00243
• dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2008-01046
• dc.relation.projectID info:eu-repo/grantAgreement/ES/2PN/AP2005-3982
• dc.rights © 2010 Moreno-Estrada et al. Creative Commons Attribution Licenseca
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/2.0/
• dc.subject.other Genoma humà
• dc.title African signatures of recent positive selection in human FOXI1ca
• dc.type info:eu-repo/semantics/articleca
• dc.type.version info:eu-repo/semantics/publishedVersion