Structural diversity and African origin of the 17q21.31 inversion polymorphism

被引：102

作者：

Steinberg, Karyn Meltz ^{[1
]}

Antonacci, Francesca ^{[1
]}

Sudmant, Peter H. ^{[1
]}

Kidd, Jeffrey M. ^{[1
]}

Campbell, Catarina D. ^{[1
]}

Vives, Laura ^{[1
]}

Malig, Maika ^{[1
]}

Scheinfeldt, Laura ^{[2
]}

Beggs, William ^{[2
]}

Ibrahim, Muntaser ^{[3
]}

Lema, Godfrey ^{[4
]}

Nyambo, Thomas B. ^{[4
]}

Omar, Sabah A. ^{[5
]}

Bodo, Jean-Marie ^{[6
]}

Froment, Alain ^{[7
]}

Donnelly, Michael P. ^{[8
]}

Kidd, Kenneth K. ^{[8
]}

Tishkoff, Sarah A. ^{[2
]}

Eichler, Evan E. ^{[1
,9
]}

机构：

[1] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[2] Univ Penn, Dept Genet & Biol, Philadelphia, PA 19104 USA

[3] Univ Khartoum, Inst Endem Dis, Dept Mol Biol, Khartoum, Sudan

[4] Muhimbili Univ Hlth & Allied Sci, Dept Biochem, Dar Es Salaam, Tanzania

[5] Ctr Biotechnol Res & Dev, Kenya Med Res Inst, Nairobi, Kenya

[6] Musee Homme Paris, MNHN, IRD, Unite Mixte Rech UMR 208, Paris, France

[7] Minist Rech Sci & Innovat, Yaounde, Cameroon

[8] Yale Univ, Dept Genet, New Haven, CT USA

[9] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA

来源：

NATURE GENETICS | 2012年 / 44卷 / 08期

基金：

加拿大自然科学与工程研究理事会; 美国国家卫生研究院; 美国国家科学基金会;

关键词：

COPY NUMBER VARIATION; ADULT DEPRESSION; SEGMENTAL DUPLICATIONS; PARKINSON-DISEASE; COMMON INVERSION; KANSL1; CAUSE; HAPLOTYPE; MAPT; GENE; ASSOCIATION;

D O I：

10.1038/ng.2335

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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') 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.

引用

页码：872 / +

页数：11

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