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한규동 (Kyudong Han) 저자 이메일 보기
Louisiana State University, 현 단국대학교
조회 2858  인쇄하기 주소복사 트위터 공유 페이스북 공유 
Human Genomic Deletions Mediated by Recombination between Alu Elements
Shurjo K. Sen,*  Kyudong Han,*  Jianxin Wang, Jungnam Lee, Hui Wang, Pauline A. Callinan, Matthew Dyer, Richard Cordaux, Ping Liang, and Mark A. Batzer

From the Department of Biological Sciences, Biological Computation and Visualization Center, Center for BioModular  Multi-Scale Systems, Louisiana State University, Baton Rouge (S.K.S.; K.H.; J.L.; H.W.; P.A.C.; M.D.; R.C.; M.A.B.); and Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo (J.W.; P.L.)

Received February 6, 2006; accepted for publication March 22, 2006; electronically published May 3, 2006.

Recombination between Alu elements results in genomic deletions associated with many human genetic disorders. Here, we compare the reference human and chimpanzee genomes to determine the magnitude of this recombination process in the human lineage since the human-chimpanzee divergence ~6 million years ago. Combining computational data mining and wet-bench experimental verification, we identified 492 human-specific deletions(for a total of ~400 kb) attributable to this process, a significant component of the insertion/deletion spectrum of the human genome. The majority of the deletions (295 of 492) coincide with known or predicted genes (including 3 that deleted functional exons, as compared with orthologous chimpanzee genes), which implicates this process increating a substantial portion of the genomic differences between humans and chimpanzees. Overall, we found that Alu recombination-mediated genomic deletion has had a much higher impact than was inferred from previously identified isolated events and that it continues to contribute to the dynamic nature of the human genome.

* These two authors contributed equally to this work.
- 형식: Research article
- 게재일: 2006년 05월 (BRIC 등록일 2006-05-24)
- 연구진: 국외연구진
- 분야: Medicine
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