Natural genetic variation caused by small insertions and deletions in the human genome

被引：181

作者：

Mills, Ryan E. ^{[1
]}

Pittard, W. Stephen

Mullaney, Julienne M. ^{[2
,3
]}

Farooq, Umar ^{[2
]}

Creasy, Todd H. ^{[2
]}

Mahurkar, Anup A. ^{[2
]}

Kemeza, David M. ^{[2
]}

Strassler, Daniel S. ^{[2
]}

Ponting, Chris P. ^{[4
]}

Webber, Caleb ^{[4
]}

Devine, Scott E. ^{[1
,2
,3
,5
,6
]}

机构：

[1] Emory Univ, Sch Med, Dept Biochem, Atlanta, GA 30322 USA

[2] Univ Maryland, Sch Med, Inst Genome Sci, Baltimore, MD 21201 USA

[3] Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA

[4] Univ Oxford, Dept Physiol Anat & Genet, MRC Funct Genom Unit, Oxford OX1 3QX, England

[5] Emory Univ, Winship Canc Inst, Atlanta, GA 30322 USA

[6] Univ Maryland, Sch Med, Greenebaum Canc Ctr, Baltimore, MD 21201 USA

来源：

GENOME RESEARCH | 2011年 / 21卷 / 06期

基金：

美国国家卫生研究院;

关键词：

STRUCTURAL VARIATION; TRANSPOSABLE ELEMENTS; MUTATIONS; SEQUENCE; POLYMORPHISMS; EXPRESSION; PIGMENTOSA; VARIANTS; REVEALS; COMPLEX;

D O I：

10.1101/gr.115907.110

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Human genetic variation is expected to play a central role in personalized medicine. Yet only a fraction of the natural genetic variation that is harbored by humans has been discovered to date. Here we report almost 2 million small insertions and deletions (INDELs) that range from 1 bp to 10,000 bp in length in the genomes of 79 diverse humans. These variants include 819,363 small INDELs that map to human genes. Small INDELs frequently were found in the coding exons of these genes, and several lines of evidence indicate that such variation is a major determinant of human biological diversity. Microarray-based genotyping experiments revealed several interesting observations regarding the population genetics of small INDEL variation. For example, we found that many of our INDELs had high levels of linkage disequilibrium (LD) with both HapMap SNPs and with high-scoring SNPs from genome-wide association studies. Overall, our study indicates that small INDEL variation is likely to be a key factor underlying inherited traits and diseases in humans.

引用

页码：830 / 839

页数：10

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