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| CHARCOT-MARIE-TOOTH TYPE-1A DUPLICATION APPEARS TO ARISE FROM RECOMBINATION AT REPEAT SEQUENCES FLANKING THE 1.5 MB MONOMER UNIT |
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| Author(s): PENTAO L, WISE CA, CHINAULT AC, PATEL PI, LUPSKI JR |
| Source: NATURE GENETICS Volume: 2 Issue: 4 Pages: 292-300 Published: DEC 1992 |
| Times Cited: 289 References: 51 |
| Abstract: We have constructed a 3.1 megabase (Mb) physical map of chromosome 17p11.2-p12, which contains a submicroscopic duplication in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). We find that the CMT1A duplication is a tandem repeat of 1.5 Mb of DNA. A YAC contig encompassing the CMT1A duplication and spanning the endpoints was also developed. Several low copy repeats in 17p11.2-p12 were identified including the large (> 17 kb) CMT1A-REP unit which may be part of a mosaic repeat. CMT1A-REP flanks the 1.5 Mb CMT1A monomer unit on normal chromosome 17 and is present in an additional copy on the CMT1A duplicated chromosome. We propose that the de novo CMT1A duplication arises from unequal crossing over due to misalignment these CMT1A-REP repeat sequences during meiosis. |
| Document Type: Article |
| Language: English |
Addresses:
1. BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA
2. BAYLOR COLL MED, CTR HUMAN GENOME, HOUSTON, TX 77030 USA
3. BAYLOR COLL MED, DEPT BIOCHEM, HOUSTON, TX 77030 USA
4. BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: KB495 |
| ISSN: 1061-4036 |
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