Recent segmental duplications in the human genome

被引：1007

作者：

Bailey, JA

Gu, ZP

Clark, RA

Reinert, K

Samonte, RV

Schwartz, S

Adams, MD

Myers, EW

Li, PW

Eichler, EE ^{[1
]}

机构：

[1] Case Western Reserve Univ, Sch Med, Ctr Computat Genom, Dept Genet, Cleveland, OH 44106 USA

[2] Case Western Reserve Univ, Sch Med, Ctr Human Genet, Cleveland, OH 44106 USA

[3] Univ Hosp Cleveland, Cleveland, OH 44106 USA

[4] Celera Genom, Rockville, MD 20850 USA

来源：

SCIENCE | 2002年 / 297卷 / 5583期

关键词：

D O I：

10.1126/science.1072047

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun sequence. This test has the ability to detect duplications larger than 15 kilobases irrespective of copy number, location, or high sequence similarity. We mapped 169 large regions flanked by highly similar duplications. Twenty-four of these hot spots of genomic instability have been associated with genetic disease. Our analysis indicates a highly nonrandom chromosomal and genic distribution of recent segmental duplications, with a likely role in expanding protein diversity.

引用

页码：1003 / 1007

页数：5

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