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| AN UNSTABLE TRIPLET REPEAT IN A GENE RELATED TO MYOTONIC MUSCULAR-DYSTROPHY |
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| Author(s): FU YH, PIZZUTI A, FENWICK RG, KING J, RAJNARAYAN S, DUNNE PW, DUBEL J, NASSER GA, ASHIZAWA T, DEJONG P, WIERINGA B, KORNELUK R, PERRYMAN MB, EPSTEIN HF, CASKEY CT |
| Source: SCIENCE Volume: 255 Issue: 5049 Pages: 1256-1258 Published: MAR 6 1992 |
| Times Cited: 884 References: 21 |
| Abstract: Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the maternal, DM-associated allele was unstable. These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome. The triplet repeat sequence is within a gene (to be referred to as myotonin-protein kinase), which has a sequence similar to protein kinases. |
| 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 NEUROL, HOUSTON, TX 77030 USA
4. UNIV CALIF LAWRENCE LIVERMORE NATL LAB, LIVERMORE, CA 94550 USA
5. CATHOLIC UNIV NIJMEGEN, DEPT CELL BIOL & HISTOL, NIJMEGEN, NETHERLANDS
6. CHILDRENS HOSP EASTERN ONTARIO, DEPT GENET, OTTAWA K1H 8L1, ONTARIO CANADA
7. BAYLOR COLL MED, DEPT CARDIOL, HOUSTON, TX 77030 USA
8. BAYLOR COLL MED, HOWARD HUGHES MED INST, HOUSTON, TX 77030 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: HG677 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |