| TRINUCLEOTIDE REPEAT EXPANSIONS AND HUMAN GENETIC-DISEASE |
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| Author(s): BATES G, LEHRACH H |
| Source: BIOESSAYS Volume: 16 Issue: 4 Pages: 277-284 Published: APR 1994 |
| Times Cited: 100 References: 74 |
| Abstract: Trinucleotide repeat expansions are now a well-established mutational mechanism in human genetic disease. An unstable CAG repeat is known to be responsible for three neurodegenerative disorders: Huntington's disease, spinal and bulbar musclar atrophy and spinocerebellar ataxia type 1. Similarities in the genetics of these diseases, the size of the repeat expansions and the position of the unstable repeat within the gene (when known) suggest a common basis to the observed phenotypes. The cloning of two regions at which chromosome breakage can be induced (FRAXA and FRAXE) has in each case uncovered an unstable CG-rich triplet repeat which becomes methylated when fully expanded. In addition to these two classes of mutation, the presence of an expanded CTG repeat in the 3' untranslated region of a protein kinase causes myotonic dystrophy. The size of the respective expansions, repeat stability, mutational origins and possible mechanisms of action are discussed. |
| Document Type: Article |
| Language: English |
Addresses:
1. IMPERIAL CANC RES FUND, GENOME ANAL LAB, LONDON WC2A 3PX, ENGLAND |
| Publisher: COMPANY OF BIOLOGISTS LTD, BIDDER BUILDING CAMBRIDGE COMMERCIAL PARK COWLEY RD, CAMBRIDGE, CAMBS, ENGLAND CB4 4DL |
| Subject Category: Biochemistry & Molecular Biology; Biology |
| IDS Number: NH290 |
| ISSN: 0265-9247 |