title: The distribution and most recent common ancestor of the 17q21 inversion in humans.
abstract: The polymorphic inversion on 17q21, sometimes called the microtubular associated protein tau (MAPT) inversion, is an approximately 900 kb inversion found primarily in Europeans and Southwest Asians. We have identified 21 SNPs that act as markers of the inverted, i.e., H2, haplotype. The inversion is found at the highest frequencies in Southwest Asia and Southern Europe (frequencies of approximately 30%); elsewhere in Europe, frequencies vary from < 5%, in Finns, to 28%, in Orcadians. The H2 inversion haplotype also occurs at low frequencies in Africa, Central Asia, East Asia, and the Americas, though the East Asian and Amerindian alleles may be due to recent gene flow from Europe. Molecular evolution analyses indicate that the H2 haplotype originally arose in Africa or Southwest Asia. Though the H2 inversion has many fixed differences across the approximately 900 kb, short tandem repeat polymorphism data indicate a very recent date for the most recent common ancestor, with dates ranging from 13,600 to 108,400 years, depending on assumptions and estimation methods. This estimate range is much more recent than the 3 million year age estimated by Stefansson et al. in 2005.
authors.affiliation: Department of Genetics, School of Medicine, Yale University, New Haven, CT 06520, USA.
authors.forename: Michael P
authors.initials: MP
authors.lastname: Donnelly
authors.forename: Peristera
authors.initials: P
authors.lastname: Paschou
authors.forename: Elena
authors.initials: E
authors.lastname: Grigorenko
authors.forename: David
authors.initials: D
authors.lastname: Gurwitz
authors.forename: Syed Qasim
authors.initials: SQ
authors.lastname: Mehdi
authors.forename: Sylvester L B
authors.initials: SL
authors.lastname: Kajuna
authors.forename: Csaba
authors.initials: C
authors.lastname: Barta
authors.forename: Selemani
authors.initials: S
authors.lastname: Kungulilo
authors.forename: N J
authors.initials: NJ
authors.lastname: Karoma
authors.forename: Ru-Band
authors.initials: RB
authors.lastname: Lu
authors.forename: Olga V
authors.initials: OV
authors.lastname: Zhukova
authors.forename: Jong-Jin
authors.initials: JJ
authors.lastname: Kim
authors.forename: David
authors.initials: D
authors.lastname: Comas
authors.forename: Marcello
authors.initials: M
authors.lastname: Siniscalco
authors.forename: Maria
authors.initials: M
authors.lastname: New
authors.forename: Peining
authors.initials: P
authors.lastname: Li
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.forename: Vangelis G
authors.initials: VG
authors.lastname: Manolopoulos
authors.forename: William C
authors.initials: WC
authors.lastname: Speed
authors.forename: Haseena
authors.initials: H
authors.lastname: Rajeevan
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Pakstis
authors.forename: Judith R
authors.initials: JR
authors.lastname: Kidd
authors.forename: Kenneth K
authors.initials: KK
authors.lastname: Kidd
mesh_terms: D000818:Animals; D007446:Chromosome Inversion / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007494:Ireland; D018895:Microsatellite Repeats / Q000235:genetics; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011323:Primates / Q000235:genetics