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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Structural diversity and African origin of the 17q21.31 inversion polymorphism
Nature Genetics, Volume 44, No. 8, Year 2012
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Description
The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with an emphasis on African populations. We characterize eight structural haplotypes due to complex rearrangements that vary in size from 1.08-1.49 Mb and provide evidence for a 30-kb H1-H2 double recombination event. We show that recurrent partial duplications of the KANSL1 gene have occurred on both the H1 and H2 haplotypes and have risen to high frequency in European populations. We identify a likely ancestral H2 haplotype (H2-2) lacking these duplications that is enriched among African hunter-gatherer groups yet essentially absent from West African populations. Whereas H1 and H2 segmental duplications arose independently and before human migration out of Africa, they have reached high frequencies recently among Europeans, either because of extraordinary genetic drift or selective sweeps. © 2012 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Steinberg, Karyn Meltz
United States, Seattle
University of Washington
Antonacci, Francesca
United States, Seattle
University of Washington
Sudmant, Peter H.
United States, Seattle
University of Washington
Kidd, Jeffrey M.
United States, Seattle
University of Washington
United States, Ann Arbor
University of Michigan, Ann Arbor
Campbell, Catarina D.
United States, Seattle
University of Washington
Vives, Laura
United States, Seattle
University of Washington
Malig, Maika
United States, Seattle
University of Washington
Scheinfeldt, Laura
United States, Philadelphia
University of Pennsylvania
Beggs, William R.
United States, Philadelphia
University of Pennsylvania
Ibrahim, Muntaser Eltayeb
Sudan, Khartoum
Institute of Endemic Diseases Sudan
Lema, Godfrey
Tanzania, Dar es Salaam
Muhimbili University of Health and Allied Sciences
Nyambo, Thomas B.
Tanzania, Dar es Salaam
Muhimbili University of Health and Allied Sciences
Omar, Sabah Ahmed
Kenya, Nairobi
Kenya Medical Research Institute
Bodo, Jean Marie
France, Paris
Museum National D'histoire Naturelle
Froment, Alain
Cameroon, Yaounde
Ministère de la Recherche Scientifique et de L'innovation
Donnelly, Michael P.
United States, New Haven
Yale University
United States, Ann Arbor
University of Michigan, Ann Arbor
United States, Chicago
The University of Chicago
Kidd, Kenneth K.
United States, New Haven
Yale University
Tishkoff, Sarah A.
United States, Philadelphia
University of Pennsylvania
Eichler, Evan E.
United States, Seattle
University of Washington
Statistics
Citations: 135
Authors: 19
Affiliations: 10
Identifiers
Doi:
10.1038/ng.2335
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics