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| CHARACTERIZATION OF THE MYOTONIC-DYSTROPHY REGION PREDICTS MULTIPLE PROTEIN ISOFORM-ENCODING MESSENGER-RNAS |
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| Author(s): JANSEN G, MAHADEVAN M, AMEMIYA C, WORMSKAMP N, SEGERS B, HENDRIKS W, OHOY K, BAIRD S, SABOURIN L, LENNON G, JAP PL, ILES D, COERWINKEL M, HOFKER M, CARRANO AV, DEJONG PJ, KORNELUK RG, WIERINGA B |
| Source: NATURE GENETICS Volume: 1 Issue: 4 Pages: 261-266 Published: JUL 1992 |
| Times Cited: 148 References: 33 |
| Abstract: The mutation underlying myotonic dystrophy (DM) has been identified as an expansion of a polymorphic CTG-repeat in a gene encoding protein kinase activity. Brain and heart transcripts of the DM-kinase (DMR-B15) gene are subject to alternative RNA splicing in both human and mouse. The unstable [CTG]5-30 Motif is found uniquely in humans, although the flanking nucleotides are also present in mouse. Characterization of the DM region of both species reveals another active gene (DMP-N9) in close proximity to the kinase gene. DMP-N9 transcripts, mainly expressed in brain and testis, possess a single, large open reading frame, but the function of its protein product is unknown. Clinical manifestation of DM may be caused by the expanded CTG-repeat compromising the (alternative) expression of DM-kinase or DMR-N9 proteins. |
| Document Type: Article |
| Language: English |
Addresses:
1. CATHOLIC UNIV NIJMEGEN, FAC MED SCI, DEPT CELL BIOL & HISTOL, POB 9101, 6500 HB NIJMEGEN, NETHERLANDS
2. CHILDRENS HOSP EASTERN ONTARIO, DIV GENET, OTTAWA K1H 8L1, ONTARIO CANADA
3. UNIV OTTAWA, DEPT MICROBIOL & IMMUNOL, OTTAWA K1N 6N5, ONTARIO CANADA
4. LAWRENCE LIVERMORE NATL LAB, DIV BIOMED SCI, CTR HUMAN GENOME, LIVERMORE, CA 94550 USA
5. LEIDEN UNIV, DEPT HUMAN GENET, 2300 RA LEIDEN, NETHERLANDS |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: JC984 |
| ISSN: 1061-4036 |
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