Identification and characterization of a spinal muscular atrophy-determining gene
| Autor: | Jean Weissenbach, Lydie Burglen, Olivier Clermont, Philippe Burlet, Judith Melki, Corinne Cruaud, Denis Le Paslier, Sophie Reboullet, Suzie Lefebvre, Massimo Zeviani, Daniel Cohen, Bernard Bénichou, Philippe Millasseau, Arnold Munnich, Louis Viollet, Jean Frézal |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Male
SMN1 Spinal Muscular Atrophies of Childhood Polymerase Chain Reaction Exon Cyclic AMP Response Element-Binding Protein Southern Polymorphism Single-Stranded Conformational Genetics Gel Blotting Single-Stranded Conformational Chromosome Mapping RNA-Binding Proteins SMN Complex Proteins Exons Telomere Electrophoresis Gel Pulsed-Field Blotting Southern Multigene Family Artificial Chromosomes Human Pair 5 Nusinersen Female Pair 5 Human Electrophoresis Genetic Markers RNA Splicing Molecular Sequence Data Nerve Tissue Proteins Biology General Biochemistry Genetics and Molecular Biology Chromosomes Pulsed-Field medicine PLS3 Humans Amino Acid Sequence Polymorphism Chromosomes Artificial Yeast Proximal spinal muscular atrophy Base Sequence Gene Deletion Mutation Biochemistry Genetics and Molecular Biology(all) Survival of motor neuron Spinal muscular atrophy medicine.disease Spinal muscular atrophies Molecular biology Yeast |
| Zdroj: | Cell. 80(1):155-165 |
| ISSN: | 0092-8674 |
| DOI: | 10.1016/0092-8674(95)90460-3 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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