Structural haplotypes and recent evolution of the human 17q21.31 region

被引：107

作者：

Boettger, Linda M. ^{[1
,2
,3
]}

Handsaker, Robert E. ^{[1
,2
]}

Zody, Michael C. ^{[1
,2
]}

McCarroll, Steven A. ^{[1
,2
]}

机构：

[1] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

[2] Broad Inst MIT & Harvard, Cambridge, MA USA

[3] Harvard Univ, Sch Med, Program Genet & Genom, Grad Program Biol & Biomed Sci, Boston, MA USA

来源：

NATURE GENETICS | 2012年 / 44卷 / 08期

关键词：

COPY-NUMBER VARIATION; GENOME-WIDE ASSOCIATION; GENOTYPE IMPUTATION; POPULATION-SCALE; PHASE INFERENCE; DISEASE; POLYMORPHISM; DROSOPHILA; INVERSION; COMPLEX;

D O I：

10.1038/ng.2334

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Structurally complex genomic regions are not yet well understood. One such locus, human chromosome 17q21.31, contains a megabase-long inversion polymorphism(1), many uncharacterized copy-number variations (CNVs) and markers that associate with female fertility(1), female meiotic recombination(1-3) and neurological disease(4,5). Additionally, the inverted H2 form of 17q21.31 seems to be positively selected in Europeans(1). We developed a population genetics approach to analyze complex genome structures and identified nine segregating structural forms of 17q21.31. Both the H1 and H2 forms of the 17q21.31 inversion polymorphism contain independently derived, partial duplications of the KANSL1 gene; these duplications, which produce novel KANSL1 transcripts, have both recently risen to high allele frequencies (26% and 19%) in Europeans. An older H2 form lacking such a duplication is present at low frequency in European and central African hunter-gatherer populations. We further show that complex genome structures can be analyzed by imputation from SNPs.

引用

页码：881 / +

页数：6

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