TY - JOUR

T1 - The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans

AU - Donnelly, Michael P.

AU - Paschou, Peristera

AU - Grigorenko, Elena

AU - Gurwitz, David

AU - Mehdi, Syed Qasim

AU - Kajuna, Sylvester L.B.

AU - Barta, Csaba

AU - Kungulilo, Selemani

AU - Karoma, N. J.

AU - Lu, Ru Band

AU - Zhukova, Olga V.

AU - Kim, Jong Jin

AU - Comas, David

AU - Siniscalco, Marcello

AU - New, Maria

AU - Li, Peining

AU - Li, Hui

AU - Manolopoulos, Vangelis G.

AU - Speed, William C.

AU - Rajeevan, Haseena

AU - Pakstis, Andrew J.

AU - Kidd, Judith R.

AU - Kidd, Kenneth K.

N1 - Funding Information: This research was funded in part by National Institutes of Health grant GM57672. We would like to thank Elena Grigorenko and Carolyn Yrigollen for providing help with the STRP typing. We would also like to thank all of the collaborators who helped to collect the samples, the National Laboratory for the Genetics of Israeli Populations at Tel-Aviv University, the Coriell Cell Repositories, and the thousands of individuals who contributed samples for studies like this.

PY - 2010/2/12

Y1 - 2010/2/12

N2 - The polymorphic inversion on 17q21, sometimes called the microtubular associated protein tau (MAPT) inversion, is an ∼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 ∼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 ∼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 2005.1.

AB - The polymorphic inversion on 17q21, sometimes called the microtubular associated protein tau (MAPT) inversion, is an ∼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 ∼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 ∼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 2005.1.

UR - http://www.scopus.com/inward/record.url?scp=76349117214&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2010.01.007

DO - 10.1016/j.ajhg.2010.01.007

M3 - Article

C2 - 20116045

AN - SCOPUS:76349117214

VL - 86

SP - 161

EP - 171

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -