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Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism

2015-11Journal article Open access
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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.accessioned2019-05-17T16:42:17Z
dc.date.available2019-05-17T16:42:17Z
dc.date.issued2015-11
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.versioninfo:eu-repo/semantics/publishedVersionpt_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, Alexandra M. Lopes. (2015). Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism, Genome Biology and Evolution, 7(12), 3239-3248. https://doi.org/10.1093/gbe/evv214
dc.identifier.doi10.1093/gbe/evv214pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.22/13733
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relation.publisherversionhttps://academic.oup.com/gbe/article/7/12/3239/2466103pt_PT
dc.subjectAfrica South of the Saharapt_PT
dc.subjectCell Linept_PT
dc.subjectChromosomes, Human, Pair 17pt_PT
dc.subjectHaplotypespt_PT
dc.subjectHumanspt_PT
dc.subjectPolymorphism, Single Nucleotidept_PT
dc.subjectSelection, Geneticpt_PT
dc.subjectChromosome Inversionpt_PT
dc.subjectEvolution, Molecularpt_PT
dc.subjectGenomic Structural Variationpt_PT
dc.titleReassessing the Evolutionary History of the 17q21 Inversion Polymorphismpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/COMPETE/PEst-C%2FSAU%2FLA0003%2F2013/PT
oaire.citation.endPage3248pt_PT
oaire.citation.issue12pt_PT
oaire.citation.startPage3239-48pt_PT
oaire.citation.titleGenome Biology and Evolutionpt_PT
oaire.citation.volume7pt_PT
oaire.fundingStreamCOMPETE
person.familyNameCelestino
person.givenNameRicardo
person.identifier154697
person.identifier.ciencia-id301A-7536-FFE2
person.identifier.orcid0000-0002-9605-6433
person.identifier.ridJ-6048-2013
person.identifier.scopus-author-id57195924601
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication46a9688a-c1bc-4e3d-a293-86f9b2c03058
relation.isAuthorOfPublication.latestForDiscovery46a9688a-c1bc-4e3d-a293-86f9b2c03058
relation.isProjectOfPublicationf5c31441-cd33-42f1-be4e-b2c8b9deb0d7
relation.isProjectOfPublication.latestForDiscoveryf5c31441-cd33-42f1-be4e-b2c8b9deb0d7

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