title: Structure and organization of the human survival motor neurone (SMN) gene.
abstract: Spinal muscular atrophies (SMA) are characterized by degeneration of the anterior horn cells of the spinal cord and represent the second most common fatal autosomal-recessive disorder after cystic fibrosis. We have previously identified the survival motor neurone gene (SMN), a SMA-determining gene in the 5q13 region encoding a hitherto unknown protein. In this report, we describe the organization and structure of SMN. The gene is approximately equal to 20 kb in length and consists of nine exons. Sequence data of the 5' end of the gene show that the dinucleotide repeat C272 is close to several putative binding sites for transcription factors, which will help to characterize the regulation of the SMN and CBCD541 gene expression. The availability of the human SMN and its highly homologous counterpart (CBCD541) gene structures and exon-intron boundaries will hopefully speed up the characterization of SMN gene mutations in SMA.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Bürglen
authors.forename: S
authors.initials: S
authors.lastname: Lefebvre
authors.forename: O
authors.initials: O
authors.lastname: Clermont
authors.forename: P
authors.initials: P
authors.lastname: Burlet
authors.forename: L
authors.initials: L
authors.lastname: Viollet
authors.forename: C
authors.initials: C
authors.lastname: Cruaud
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Melki
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D017362:Cyclic AMP Response Element-Binding Protein; D018900:Dinucleotide Repeats / Q000235:genetics; D005091:Exons / Q000235:genetics; D005796:Genes / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D015183:Restriction Mapping; D055532:SMN Complex Proteins; D017422:Sequence Analysis, DNA
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins