title: cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).
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.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM, Unité 393, IFREM, Institut Necker, Hôpital des Enfants Malades, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Viollet
authors.forename: S
authors.initials: S
authors.lastname: Bertrandy
authors.forename: A L
authors.initials: AL
authors.lastname: Bueno Brunialti
authors.forename: S
authors.initials: S
authors.lastname: Lefebvre
authors.forename: P
authors.initials: P
authors.lastname: Burlet
authors.forename: O
authors.initials: O
authors.lastname: Clermont
authors.forename: C
authors.initials: C
authors.lastname: Cruaud
authors.forename: J L
authors.initials: JL
authors.lastname: Guénet
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Melki
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D015139:Blotting, Southern; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D017362:Cyclic AMP Response Element-Binding Protein; D018076:DNA, Complementary; D015870:Gene Expression; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011061:Poly A; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014018:Tissue Distribution
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D018076:DNA, Complementary; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D011061:Poly A