| Autor: |
Cox GA; The Jackson Laboratory, Bar Harbor, Maine 04609, USA. gac@jax.org, Mahaffey CL, Frankel WN |
| Jazyk: |
angličtina |
| Zdroj: |
Neuron [Neuron] 1998 Dec; Vol. 21 (6), pp. 1327-37. |
| DOI: |
10.1016/s0896-6273(00)80652-2 |
| Abstrakt: |
The nmd mouse mutation causes progressive degeneration of spinal motor neurons and muscle atrophy. We identified the mutated gene as the putative transcriptional activator and ATPase/DNA helicase previously described as Smbp2, Rip1, Gf1, or Catf1. Mutations were found in two alleles-a single amino acid deletion in nmdJ and a splice donor mutation in nmd2J. The selective vulnerability of motor neurons is striking in view of the widespread expression of this gene, although the pattern of degeneration may reflect a specific threshold since neither allele is null. In addition, the severity of the nmd phenotype is attenuated in a semidominant fashion by a major genetic locus on chromosome (Chr) 13. The identification of the nmd gene and mapping of a major suppressor provide new opportunities for understanding mechanisms of motor neuron degeneration. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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