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| THE GENE FOR NEURONAL APOPTOSIS INHIBITORY PROTEIN IS PARTIALLY DELETED IN INDIVIDUALS WITH SPINAL MUSCULAR-ATROPHY |
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| Author(s): ROY N, MAHADEVAN MS, MCLEAN M, SHUTLER G, YARAGHI Z, FARAHANI R, BAIRD S, BESNERJOHNSTON A, LEFEBVRE C, KANG XL, SALIH M, AUBRY H, TAMAI K, GUAN XP, IOANNOU P, CRAWFORD TO, DEJONG PJ, SURH L, IKEDA JE, KORNELUK RG, MACKENZIE A |
| Source: CELL Volume: 80 Issue: 1 Pages: 167-178 Published: JAN 13 1995 |
| Times Cited: 676 References: 53 |
| Abstract: The spinal muscular atrophies (SMAs), characterized by spinal cord motor neuron depletion, are among the most common autosomal recessive disorders. One model of SMA pathogenesis invokes an inappropriate persistence of normally occurring motor neuron apop tosis. Consistent with this hypothesis, the novel gene for neuronal apoptosis inhibitory protein (NAIP) has been mapped to the SMA region of chromosome 5q13.1 and is homologous with baculoviral apoptosis inhibitor proteins. The two first coding exons of this gene are deleted in approximately 67% of type I SMA chromosomes compared with 2% of non-SMA chromosomes. Furthermore, RT-PCR analysis reveals internally deleted and mutated forms of the NAIP transcript in type I SMA individuals and not in unaffected individuals. These findings suggest that mutations in the NAIP locus may lead to a failure of a normally occurring inhibition of motor neuron apoptosis resulting in or contributing to the SMA phenotype. |
| Document Type: Article |
| Language: English |
Addresses:
1. CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1 CANADA
2. UNIV OTTAWA, DEPT BIOCHEM, OTTAWA, ON K1H 8M5 CANADA
3. UNIV OTTAWA, DEPT PEDIAT, OTTAWA, ON K1H 8M5 CANADA
4. UNIV OTTAWA, IKEDA GENOSPHERE PROJECT, OTTAWA, ON K1H 8M5 CANADA
5. UNIV OTTAWA, DEPT MICROBIOL, OTTAWA, ON K1H 8M5 CANADA
6. UNIV OTTAWA, DEPT IMMUNOL, OTTAWA, ON K1H 8M5 CANADA
7. ROSWELL PK CANC INST, DEPT HUMAN GENET, BUFFALO, NY 14263 USA
8. JOHNS HOPKINS UNIV, DEPT NEUROL, BALTIMORE, MD 21205 USA
9. TOKAI UNIV, INST MED SCI, DEPT MED & MOLEC GENET, ISEHARA, KANAGAWA 25911 JAPAN |
| 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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| | | | | | | | | Record from Web of Science® | | | | | | | | | |