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| Recent segmental duplications in the human genome |
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| Author(s): Bailey JA, Gu ZP, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE |
| Source: SCIENCE Volume: 297 Issue: 5583 Pages: 1003-1007 Published: AUG 9 2002 |
| Times Cited: 488 References: 25 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Eichler, EE (reprint author), Case Western Reserve Univ, Sch Med, Ctr Computat Genom, Dept Genet, Cleveland, OH 44106 USA |
Addresses:
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 |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: 581ZN |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |