Journal
Structure and organization of the human survival motor neurone (SMN) gene.
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 ≅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 andCBCD541 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.