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cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).

Authors
  • Viollet, L
  • Bertrandy, S
  • Bueno Brunialti, A L
  • Lefebvre, S
  • Burlet, P
  • Clermont, O
  • Cruaud, C
  • Guénet, J L
  • Munnich, A
  • Melki, J
Type
Published Article
Journal
Genomics
Publication Date
Feb 15, 1997
Volume
40
Issue
1
Pages
185–188
Identifiers
PMID: 9070939
Source
Medline
License
Unknown

Abstract

Spinal muscular atrophy (SMA) is a frequent autosomal recessive disease in human characterized by degeneration of motor neurons of the spinal cord. The genomic region containing the defective gene (5q13) is particularly unstable and prone to large-scale deletions whose characterization led to the identification of the survival motor neuron (SMN) gene, the SMA determining gene encoding a hitherto unknown protein. As an initial step toward the generation of a murine model for SMA, we identified and characterized a full-length murine Smn cDNA. The coding sequence of the mouse Smn gene was found to be 82% identical, at the amino acid level, with the human SMN coding sequence. The Smn locus was mapped to the segment of mouse chromosome 13 exhibiting conservation of synteny with human chromosome 5q11-q23, which contains the SMN gene. However, no evidence for a duplication of the Smn gene was found in the mouse, suggesting that the duplication reported in human is a recent evolutionary event.

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