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Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism

dc.contributor.authorAlves, Joao M.
dc.contributor.authorLima, Ana C.
dc.contributor.authorPais, Isa A.
dc.contributor.authorAmir, Nadir
dc.contributor.authorCelestino, Ricardo
dc.contributor.authorPiras, Giovanna
dc.contributor.authorMonne, Maria
dc.contributor.authorComas, David
dc.contributor.authorHeutink, Peter
dc.contributor.authorChikhi, Lounès
dc.contributor.authorAmorim, António
dc.contributor.authorLopes, Alexandra M.
dc.date.accessioned2016-11-29T18:24:31Z
dc.date.available2016-11-29T18:24:31Z
dc.date.issued2015-11-11pt
dc.description.abstractA polymorphic inversion that lies on chromosome 17q21 comprises two major haplotype families (H1 and H2) that not only differ in orientation but also in copy-number. Although the processes driving the spread of the inversion-associated lineage (H2) in humans remain unclear, a selective advantage has been proposed for one of its subtypes. Here, we genotyped a large panel of individuals from previously overlooked populations using a custom array with a unique panel of H2-specific single nucleotide polymorphisms and found a patchy distribution of H2 haplotypes in Africa, with North Africans displaying a higher frequency of inverted subtypes, when compared with Sub-Saharan groups. Interestingly, North African H2s were found to be closer to "non-African" chromosomes further supporting that these populations may have diverged more recently from groups outside Africa. Our results uncovered higher diversity within the H2 family than previously described, weakening the hypothesis of a strong selective sweep on all inverted chromosomes and suggesting a rather complex evolutionary history at this locus.pt_PT
dc.description.sponsorshipFEDER funds: (Operational Programme for Competitiveness Factors—COMPETE); Fundação para a Ciência e a Tecnologia grants: (IF/01262/2014); Programa Operacional Regional do Norte grants: (NORTE-07-0162-FEDER-00018, NORTE-07-0162-FEDER-000067); Quadro de Referência Estratégica Nacional (QREN); EMBO short-term fellowship: (ASFT 520-2013); Spanish MINECO project: (CGL2013-44351-P); Laboratoire d’Excellence (LABEX) TULIP:(ANR-10-LABX-41).pt_PT
dc.identifier.citationJoao M. Alves, Ana C. Lima, Isa A. Pais, Nadir Amir, Ricardo Celestino, Giovanna Piras, Maria Monne, David Comas, Peter Heutink, Lounès Chikhi, António Amorim, and Alexandra M. Lopes Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism Genome Biol Evol (2015) Vol. 7 3239-3248 first published online November 11, 2015 doi:10.1093/gbe/evv214pt_PT
dc.identifier.doi10.1093/gbe/evv214pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.7/722
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherOxford University Presspt_PT
dc.relationA vertebrate's eye view on habitat loss and fragmentation across time and space in Madagascar
dc.relation.publisherversionhttp://gbe.oxfordjournals.org/content/7/12/3239pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectchromosomal inversionspt_PT
dc.subjecthuman demographypt_PT
dc.subjecthuman evolutionpt_PT
dc.titleReassessing the Evolutionary History of the 17q21 Inversion Polymorphismpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleA vertebrate's eye view on habitat loss and fragmentation across time and space in Madagascar
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/COMPETE/PEst-C%2FSAU%2FLA0003%2F2013/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F51004%2F2010/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F51695%2F2011/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIA-BIC%2F4476%2F2012/PT
oaire.citation.endPage3248pt_PT
oaire.citation.issue12pt_PT
oaire.citation.startPage3239pt_PT
oaire.citation.titleGenome Biology and Evolutionpt_PT
oaire.citation.volume7pt_PT
oaire.fundingStreamCOMPETE
oaire.fundingStreamSFRH
oaire.fundingStreamSFRH
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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relation.isProjectOfPublication0c257897-15ee-4407-ac64-43177bda0d5c
relation.isProjectOfPublicatione54b74ca-615e-4ecd-bbc2-98f16cbc6612
relation.isProjectOfPublication83310cd5-56cd-4a6a-8838-501b4238c793
relation.isProjectOfPublication.latestForDiscovery0c257897-15ee-4407-ac64-43177bda0d5c

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