Identification and characterization of the gene causing type 1 spinocerebellar ataxia
作者： Sandro Banfi , Antonio Servadio , Ming-yi Chung , Thomas J. Kwiatkowski , Alanna E. McCall
DOI: 10.1038/NG0894-513
关键词: Exon 、 Polyglutamine tract 、 Untranslated region 、 Spinocerebellar ataxia 、 Coding region 、 Alternative splicing 、 Trinucleotide repeat expansion 、 Biology 、 Spinocerebellar Ataxia Type 1 、 Genetics
摘要: Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by expansion of CAG trinucleotide repeat. In this study, we describe the identification and characterization gene harbouring The SCA1 transcript 10,660 bases transcribed from both wild alleles. repeat, coding for polyglutamine tract, lies within region. spans 450 kb genomic DNA organized in nine exons. first seven fall 5' untranslated region last two contain region, 7,277 basepairs 3' four non-coding exons undergo alternative splicing several tissues. These features suggest that transcriptional translational regulation ataxin-1, encoded protein, may be complex.
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