Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism

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 2700 individuals with an emphasis on African populations. We characterize eight structural haplotypes that...

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Main Authors:	Steinberg, Karyn Meltz, Antonacci, Francesca, Sudmant, Peter H., Kidd, Jeffrey M., Campbell, Catarina D., Vives, Laura, Malig, Maika, Scheinfeldt, Laura, Beggs, William, Ibrahim, Muntaser, Lema, Godfrey, Nyambo, Thomas B., Omar, Sabah A., Bodo, Jean-Marie, Froment, Alain, Donnelly, Michael P., Kidd, Kenneth K., Tishkoff, Sarah A., Eichler, Evan E.
Format:	Online
Language:	English
Published:	2012
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408829/

id	pubmed-3408829
recordtype	oai_dc
spelling	pubmed-34088292013-02-01 Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism Steinberg, Karyn Meltz Antonacci, Francesca Sudmant, Peter H. Kidd, Jeffrey M. Campbell, Catarina D. Vives, Laura Malig, Maika Scheinfeldt, Laura Beggs, William Ibrahim, Muntaser Lema, Godfrey Nyambo, Thomas B. Omar, Sabah A. Bodo, Jean-Marie Froment, Alain Donnelly, Michael P. Kidd, Kenneth K. Tishkoff, Sarah A. Eichler, Evan E. Article 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 2700 individuals with an emphasis on African populations. We characterize eight structural haplotypes that vary in size from 1.08 to 1.49 Mbp as a result of complex rearrangements and provide evidence for a 30 kbp H1/H2 double recombination event. We show that recurrent partial duplications of the KANSL1 (previously known as KIAA1267) gene have occurred on both H1 and H2 haplotypes and risen to high frequency in European populations. We identify a likely ancestral H2 haplotype (H2′) lacking these duplications, enriched among African hunter-gatherer groups yet essentially absent from West Africans populations. While H1 and H2 segmental duplications arose independently and prior to the human migration out of Africa, they have reached high frequencies recently among Europeans either due to extraordinary genetic drift or selective sweeps. 2012-07-01 /pmc/articles/PMC3408829/ /pubmed/22751100 http://dx.doi.org/10.1038/ng.2335 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Steinberg, Karyn Meltz Antonacci, Francesca Sudmant, Peter H. Kidd, Jeffrey M. Campbell, Catarina D. Vives, Laura Malig, Maika Scheinfeldt, Laura Beggs, William Ibrahim, Muntaser Lema, Godfrey Nyambo, Thomas B. Omar, Sabah A. Bodo, Jean-Marie Froment, Alain Donnelly, Michael P. Kidd, Kenneth K. Tishkoff, Sarah A. Eichler, Evan E.
spellingShingle	Steinberg, Karyn Meltz Antonacci, Francesca Sudmant, Peter H. Kidd, Jeffrey M. Campbell, Catarina D. Vives, Laura Malig, Maika Scheinfeldt, Laura Beggs, William Ibrahim, Muntaser Lema, Godfrey Nyambo, Thomas B. Omar, Sabah A. Bodo, Jean-Marie Froment, Alain Donnelly, Michael P. Kidd, Kenneth K. Tishkoff, Sarah A. Eichler, Evan E. Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism
author_facet	Steinberg, Karyn Meltz Antonacci, Francesca Sudmant, Peter H. Kidd, Jeffrey M. Campbell, Catarina D. Vives, Laura Malig, Maika Scheinfeldt, Laura Beggs, William Ibrahim, Muntaser Lema, Godfrey Nyambo, Thomas B. Omar, Sabah A. Bodo, Jean-Marie Froment, Alain Donnelly, Michael P. Kidd, Kenneth K. Tishkoff, Sarah A. Eichler, Evan E.
author_sort	Steinberg, Karyn Meltz
title	Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism
title_short	Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism
title_full	Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism
title_fullStr	Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism
title_full_unstemmed	Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism
title_sort	structural diversity and african origin of the 17q21.31 inversion polymorphism
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 2700 individuals with an emphasis on African populations. We characterize eight structural haplotypes that vary in size from 1.08 to 1.49 Mbp as a result of complex rearrangements and provide evidence for a 30 kbp H1/H2 double recombination event. We show that recurrent partial duplications of the KANSL1 (previously known as KIAA1267) gene have occurred on both H1 and H2 haplotypes and risen to high frequency in European populations. We identify a likely ancestral H2 haplotype (H2′) lacking these duplications, enriched among African hunter-gatherer groups yet essentially absent from West Africans populations. While H1 and H2 segmental duplications arose independently and prior to the human migration out of Africa, they have reached high frequencies recently among Europeans either due to extraordinary genetic drift or selective sweeps.
publishDate	2012
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408829/
_version_	1611546634999562240

Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism

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