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| EVIDENCE FOR A MECHANISM PREDISPOSING TO INTERGENERATIONAL CAG REPEAT INSTABILITY IN SPINOCEREBELLAR ATAXIA TYPE-I |
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| Author(s): CHUNG MY, RANUM LPW, DUVICK LA, SERVADIO A, ZOGHBI HY, ORR HT |
| Source: NATURE GENETICS Volume: 5 Issue: 3 Pages: 254-258 Published: NOV 1993 |
| Times Cited: 360 References: 26 |
| Abstract: Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an increase in repeat number is observed, whereas 69% of maternal transmissions showed no change or a decrease in repeat number. Sequence analysis of the repeat from 126 chromosomes reveals an interrupted repeat configuration in 98% of the unexpanded alleles but a contiguous repeat (CAG)n configuration in 30 expanded alleles from seven SCA1 families. This indicates that the repeat instability in SCA1 is more complex than a simple variation in repeat number and that the loss of an interruption predisposes the SCA1 (CAG)n to expansion. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV MINNESOTA, DEPT LAB MED & PATHOL, MINNEAPOLIS, MN 55455 USA
2. BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA
3. BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA
4. UNIV MINNESOTA, INST HUMAN GENET, MINNEAPOLIS, MN 55455 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: MF122 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |