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| IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE |
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| Author(s): LEFEBVRE S, BURGLEN L, REBOULLET S, CLERMONT O, BURLET P, VIOLLET L, BENICHOU B, CRUAUD C, MILLASSEAU P, ZEVIANI M, LEPASLIER D, FREZAL J, COHEN D, WEISSENBACH J, MUNNICH A, MELKI J |
| Source: CELL Volume: 80 Issue: 1 Pages: 155-165 Published: JAN 13 1995 |
| Times Cited: 1,063 References: 36 |
| Abstract: Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive paralysis with muscular atrophy. The gene for SMA has been mapped to chromosome 5q13, where large-scale deletions have been reported. We describe here the inverted duplication of a 500 kb element in normal chromosomes and narrow the critical region to 140 kb within the telomeric region. This interval contains a 20 kb gene encoding a novel protein of 294 amino acids. An highly homologous gene is present in the centromeric element of 95% of controls. The telomeric gene is either lacking or interrupted in 226 of 229 patients, and patients retaining this gene (3 of 229) carry either a point mutation (Y272C) or short deletions in the consensus splice sites of introns 6 and 7. These data suggest that this gene, termed the survival motor neuron (SMN) gene, is an SMA-determining gene. |
| Document Type: Article |
| Language: English |
| Reprint Address: LEFEBVRE, S (reprint author), HOP NECKER ENFANTS MALAD, INST NECKER, INSERM, U393, UNITE RECH HANDICAPS GENET ENFANT, F-75743 PARIS 15, FRANCE |
Addresses:
1. CTR ETUD POLYMORPHISME HUMAIN, F-75010 PARIS, FRANCE
2. GENETHON, F-91002 EVRY, FRANCE |
| Publisher: CELL PRESS, 50 CHURCH ST CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: QB910 |
| ISSN: 0092-8674 |
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