title: Afghan Hindu Kush: where Eurasian sub-continent gene flows converge.
abstract: Despite being located at the crossroads of Asia, genetics of the Afghanistan populations have been largely overlooked. It is currently inhabited by five major ethnic populations: Pashtun, Tajik, Hazara, Uzbek and Turkmen. Here we present autosomal from a subset of our samples, mitochondrial and Y- chromosome data from over 500 Afghan samples among these 5 ethnic groups. This Afghan data was supplemented with the same Y-chromosome analyses of samples from Iran, Kyrgyzstan, Mongolia and updated Pakistani samples (HGDP-CEPH). The data presented here was integrated into existing knowledge of pan-Eurasian genetic diversity. The pattern of genetic variation, revealed by structure-like and Principal Component analyses and Analysis of Molecular Variance indicates that the people of Afghanistan are made up of a mosaic of components representing various geographic regions of Eurasian ancestry. The absence of a major Central Asian-specific component indicates that the Hindu Kush, like the gene pool of Central Asian populations in general, is a confluence of gene flows rather than a source of distinctly autochthonous populations that have arisen in situ: a conclusion that is reinforced by the phylogeography of both haploid loci.
authors.affiliation: Aix Marseille Université, ADES UMR7268, CNRS, EFS-AM, Marseille, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Di Cristofaro
authors.forename: Erwan
authors.initials: E
authors.lastname: Pennarun
authors.forename: Stéphane
authors.initials: S
authors.lastname: Mazières
authors.forename: Natalie M
authors.initials: NM
authors.lastname: Myres
authors.forename: Alice A
authors.initials: AA
authors.lastname: Lin
authors.forename: Shah Aga
authors.initials: SA
authors.lastname: Temori
authors.forename: Mait
authors.initials: M
authors.lastname: Metspalu
authors.forename: Ene
authors.initials: E
authors.lastname: Metspalu
authors.forename: Michael
authors.initials: M
authors.lastname: Witzel
authors.forename: Roy J
authors.initials: RJ
authors.lastname: King
authors.forename: Peter A
authors.initials: PA
authors.lastname: Underhill
authors.forename: Richard
authors.initials: R
authors.lastname: Villems
authors.forename: Jacques
authors.initials: J
authors.lastname: Chiaroni
mesh_terms: D000346:Afghanistan / Q000208:ethnology; D000704:Analysis of Variance; D001208:Asia / Q000208:ethnology; D044466:Asian People / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000145:classification / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D051456:Gene Flow; D014644:Genetic Variation; D005828:Genetics, Population / Q000379:methods; D005843:Geography; D006239:Haplotypes; D006801:Humans; D010802:Phylogeny; D058974:Phylogeography / Q000379:methods; D025341:Principal Component Analysis; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial