title: The geographic distribution of human Y chromosome variation.
abstract: We examined variation on the nonrecombining portion of the human Y chromosome to investigate human evolution during the last 200,000 years. The Y-specific polymorphic sites included the Y Alu insertional polymorphism or "YAP" element (DYS287), the poly(A) tail associated with the YAP element, three point mutations in close association with the YAP insertion site, an A-G polymorphic transition (DYS271), and a tetranucleotide microsatellite (DYS19). Global variation at the five bi-allelic sites (DYS271, DYS287, and the three point mutations) gave rise to five "YAP haplotypes" in 60 populations from Africa, Europe, Asia, Australasia, and the New World (n = 1500). Combining the multi-allelic variation at the microsatellite loci (poly(A) tail and DYS19) with the YAP haplotypes resulted in a total of 27 "combination haplotypes". All five of the YAP haplotypes and 21 of the 27 combination haplotypes were found in African populations, which had greater haplotype diversity than did populations from other geographical locations. Only subsets of the five YAP haplotypes were found outside of Africa. Patterns of observed variation were compatible with a variety of hypotheses, including multiple human migrations and range expansions.
authors.affiliation: Laboratory of Molecular Systematics and Evolution, University of Arizona, Tucson 85721, USA. hammer@biosci.arizona.edu
authors.forename: M F
authors.initials: MF
authors.lastname: Hammer
authors.forename: A B
authors.initials: AB
authors.lastname: Spurdle
authors.forename: T
authors.initials: T
authors.lastname: Karafet
authors.forename: M R
authors.initials: MR
authors.lastname: Bonner
authors.forename: E T
authors.initials: ET
authors.lastname: Wood
authors.forename: A
authors.initials: A
authors.lastname: Novelletto
authors.forename: P
authors.initials: P
authors.lastname: Malaspina
authors.forename: R J
authors.initials: RJ
authors.lastname: Mitchell
authors.forename: S
authors.initials: S
authors.lastname: Horai
authors.forename: T
authors.initials: T
authors.lastname: Jenkins
authors.forename: S L
authors.initials: SL
authors.lastname: Zegura
mesh_terms: D005787:Gene Frequency; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D016013:Likelihood Functions; D008297:Male; D011110:Polymorphism, Genetic; D014998:Y Chromosome