title: Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism.
abstract: A 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.
authors.affiliation: Doctoral Program in Areas of Basic and Applied Biology (GABBA), University of Porto, Portugal Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal Instituto de Patologia e Imunologia Molecular da Universidade do Porto-IPATIMUP, Portugal Instituto Gulbenkian de Ciência (IGC), Oeiras, Portugal Present address: Department of Biochemistry, Genetics and Immunology and Institute of Biomedical Research of Vigo (IBIV), University of Vigo, Vigo, Spain jmfernandesalves@gmail.com.
authors.forename: Joao M
authors.initials: JM
authors.lastname: Alves
authors.affiliation: Doctoral Program in Areas of Basic and Applied Biology (GABBA), University of Porto, Portugal Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal Instituto de Patologia e Imunologia Molecular da Universidade do Porto-IPATIMUP, Portugal Department of Genetics, Washington University School of Medicine, St. Louis.
authors.forename: Ana C
authors.initials: AC
authors.lastname: Lima
authors.affiliation: Instituto Gulbenkian de Ciência (IGC), Oeiras, Portugal.
authors.forename: Isa A
authors.initials: IA
authors.lastname: Pais
authors.affiliation: Laboratoire de Biochimie Appliquée, Faculté des Sciences de la Nature et de la Vie, Université Abedrrahmane Mira de Bejaia, Algerie.
authors.forename: Nadir
authors.initials: N
authors.lastname: Amir
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal Instituto de Patologia e Imunologia Molecular da Universidade do Porto-IPATIMUP, Portugal School of Allied Health Technologies, Polytechnic of Porto, Porto, Portugal.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Celestino
authors.affiliation: Department of Hematology, Centro di Diagnostica Biomoleculare et Citogenetica Emato-Oncologica, San Francesco Hospital-ASL, Nuoro, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Piras
authors.affiliation: Department of Hematology, Centro di Diagnostica Biomoleculare et Citogenetica Emato-Oncologica, San Francesco Hospital-ASL, Nuoro, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Monne
authors.affiliation: Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Comas
authors.affiliation: German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
authors.affiliation: Instituto Gulbenkian de Ciência (IGC), Oeiras, Portugal CNRS (Centre National de la Recherche Scientifique), Université Paul Sabatier, École Nationale de Formation Agronomique, Unité Mixte de Recherche 5174 EDB (Laboratoire Évolution & Diversit Biologique), Toulouse, France.
authors.forename: Lounès
authors.initials: L
authors.lastname: Chikhi
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal Instituto de Patologia e Imunologia Molecular da Universidade do Porto-IPATIMUP, Portugal Faculdade de Ciências da Universidade do Porto, Portugal.
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal Instituto de Patologia e Imunologia Molecular da Universidade do Porto-IPATIMUP, Portugal.
authors.forename: Alexandra M
authors.initials: AM
authors.lastname: Lopes
mesh_terms: D017954:Africa South of the Sahara; D002460:Cell Line; D007446:Chromosome Inversion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D019143:Evolution, Molecular; D056914:Genomic Structural Variation; D006239:Haplotypes; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012641:Selection, Genetic
keywords: chromosomal inversions; human demography; human evolution