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

Michael P. Donnelly, Peristera Paschou, Elena Grigorenko, David Gurwitz, Syed Qasim Mehdi, Sylvester L B Kajuna, C. Barta, Selemani Kungulilo, N. J. Karoma, Ru Band Lu, Olga V. Zhukova, Jong Jin Kim, David Comas, Marcello Siniscalco, Maria New, Peining Li, Hui Li, Vangelis G. Manolopoulos, William C. Speed, Haseena RajeevanAndrew J. Pakstis, Judith R. Kidd, Kenneth K. Kidd

Research output: Contribution to journalArticle

33 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)161-171
Number of pages11
JournalAmerican Journal of Human Genetics
Volume86
Issue number2
DOIs
Publication statusPublished - Feb 12 2010

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Haplotypes
Namibia
Central Asia
tau Proteins
Far East
Gene Flow
Molecular Evolution
Microsatellite Repeats
Single Nucleotide Polymorphism
Alleles

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Donnelly, M. P., Paschou, P., Grigorenko, E., Gurwitz, D., Mehdi, S. Q., Kajuna, S. L. B., ... Kidd, K. K. (2010). The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans. American Journal of Human Genetics, 86(2), 161-171. https://doi.org/10.1016/j.ajhg.2010.01.007

The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans. / Donnelly, Michael P.; Paschou, Peristera; Grigorenko, Elena; Gurwitz, David; Mehdi, Syed Qasim; Kajuna, Sylvester L B; Barta, C.; Kungulilo, Selemani; Karoma, N. J.; Lu, Ru Band; Zhukova, Olga V.; Kim, Jong Jin; Comas, David; Siniscalco, Marcello; New, Maria; Li, Peining; Li, Hui; Manolopoulos, Vangelis G.; Speed, William C.; Rajeevan, Haseena; Pakstis, Andrew J.; Kidd, Judith R.; Kidd, Kenneth K.

In: American Journal of Human Genetics, Vol. 86, No. 2, 12.02.2010, p. 161-171.

Research output: Contribution to journalArticle

Donnelly, MP, Paschou, P, Grigorenko, E, Gurwitz, D, Mehdi, SQ, Kajuna, SLB, Barta, C, Kungulilo, S, Karoma, NJ, Lu, RB, Zhukova, OV, Kim, JJ, Comas, D, Siniscalco, M, New, M, Li, P, Li, H, Manolopoulos, VG, Speed, WC, Rajeevan, H, Pakstis, AJ, Kidd, JR & Kidd, KK 2010, 'The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans', American Journal of Human Genetics, vol. 86, no. 2, pp. 161-171. https://doi.org/10.1016/j.ajhg.2010.01.007
Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Mehdi SQ, Kajuna SLB et al. The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans. American Journal of Human Genetics. 2010 Feb 12;86(2):161-171. https://doi.org/10.1016/j.ajhg.2010.01.007
Donnelly, Michael P. ; Paschou, Peristera ; Grigorenko, Elena ; Gurwitz, David ; Mehdi, Syed Qasim ; Kajuna, Sylvester L B ; Barta, C. ; Kungulilo, Selemani ; Karoma, N. J. ; Lu, Ru Band ; Zhukova, Olga V. ; Kim, Jong Jin ; Comas, David ; Siniscalco, Marcello ; New, Maria ; Li, Peining ; Li, Hui ; Manolopoulos, Vangelis G. ; Speed, William C. ; Rajeevan, Haseena ; Pakstis, Andrew J. ; Kidd, Judith R. ; Kidd, Kenneth K. / The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans. In: American Journal of Human Genetics. 2010 ; Vol. 86, No. 2. pp. 161-171.
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