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| Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice |
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| Author(s): Gourdon G, Radvanyi F, Lia AS, Duros C, Blanche M, Abitbol M, Junien C, HofmannRadvanyi H |
| Source: NATURE GENETICS Volume: 15 Issue: 2 Pages: 190-192 Published: FEB 1997 |
| Times Cited: 68 References: 30 |
| Abstract: Myotonic dystrophy (DM) is associated with the expansion of a (CTG)n trinucleotide repeat in the 3' untranslated region (UTR) of the DM protein kinase gene (DMPK)(1). The (CTG)n repeat is polymorphic and varies in size between 5 and 37 repeats in unaffected individuals' whereas in affected patients there are between 50 and 4,000 CTGs(2,3), The size of the (CTC)n repeat, which increases through generations, generally correlates with clinical severity and age of onset(4). The instability of the CTG repeat appears to depend on its size as well as on the sex of the transmitting parent(5-9). Moreover, mitotic instability analysis of different human DM tissues shows length mosaicism between different cell lineages(3,6,10-14). The molecular mechanisms of triplet instability remain elusive. To investigate the role of genomic sequences in instability, we produced transgenic mice containing a 45-kb genomic segment with a 55-CTG repeat cloned from a mildly affected patient. In contrast to other mouse models containing CAG repeats within cDNAs, these mice showed both intergenerational and somatic repeat instability(15-17). |
| Document Type: Article |
| Language: English |
Addresses:
1. HOP NECKER ENFANTS MALAD, INSERM UR383, LAMY, F-75743 PARIS 15, FRANCE
2. INST CURIE, UMR 144, CNRS, PARIS, FRANCE
3. UNIV PARIS 05, FAC NECKER, CTR RECH THERAPEUT OPHTALMOL, F-75270 PARIS 06, FRANCE
4. HOP AMBROISE PARE, BIOCHIM LAB, BOULOGNE, FRANCE |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: WF087 |
| ISSN: 1061-4036 |
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