Structure and organization of the human survival motor neurone (SMN) gene
Structure and organization of the human survival motor neurone (SMN) gene
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DOI：
10.1006/geno.1996.0147
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发表时间：
1996-03-15
期刊：
影响因子：
4.4
通讯作者：
Melki, J
中科院分区：
文献类型：
--
作者：
Burglen, L;Lefebvre, S;Melki, J
脊髓性肌萎缩症（SMA）的特征是脊髓前角细胞变性，是继囊性纤维化之后第二常见的致死性常染色体隐性遗传疾病。我们以前已经确定了生存运动神经元基因（SMN），SMA决定基因在5 q13区域编码一个迄今未知的蛋白质。在本报告中，我们描述了SMN的组织和结构。该基因全长20 kb，由9个外显子组成。该基因5'端的序列分析表明，C272二核苷酸重复序列与几个转录因子的结合位点接近，这将有助于研究SMN和（C）BCD 541基因表达的调控。人SMN及其高度同源的对应物（（C）BCD 541）基因结构和外显子-内含子边界的可用性将有望加快SMA中SMN基因突变的表征。(C)出版社：Academic Press，Inc.
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 congruent 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 (C)BCD541 gene expression. The availability of the human SMN and its highly homologous counterpart ((C)BCD541) gene structures and exon-intron boundaries will hopefully speed up the characterization of SMN gene mutations in SMA. (C) 1996 Academic Press, Inc.