IDENTIFICATION AND CHARACTERIZATION OF THE GENE CAUSING TYPE-1 SPINOCEREBELLAR ATAXIA
IDENTIFICATION AND CHARACTERIZATION OF THE GENE CAUSING TYPE-1 SPINOCEREBELLAR ATAXIA
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DOI：
10.1038/ng0894-513
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发表时间：
1994-08-01
期刊：
影响因子：
30.8
通讯作者：
ZOGHBI, HY
中科院分区：
文献类型：
--
作者：
BANFI, S;SERVADIO, A;ZOGHBI, HY
脊髓小脑性共济失调1型（SCA1）是一种由CAG三核苷酸重复扩增引起的神经退行性疾病。在这项研究中，我们描述的鉴定和表征基因窝藏这个重复。SCA1转录本有10,660个碱基，由野生型和SCA1等位基因转录而成。编码聚谷氨酰胺束的CAG重复序列位于编码区内。该基因横跨450kb的基因组DNA，由9个外显子组成。前7个位于5‘非翻译区，后2个包含编码区和7277个碱基对的3’非翻译区。前四个非编码外显子在几个组织中进行选择性剪接。这些特征表明，SCA1编码蛋白ataxin-1的转录和翻译调控可能是复杂的。
Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat. In this study, we describe the identification and characterization of the gene harbouring this repeat. The SCA1 transcript is 10,660 bases and is transcribed from both the wild type and SCA1 alleles. The CAG repeat, coding for a polyglutamine tract, lies within the coding region. The gene spans 450 kb of genomic DNA and is organized in nine exons. The first seven fall in the 5' untranslated region and the last two contain the coding region, and a 7,277 basepairs 3' untranslated region. The first four non-coding exons undergo alternative splicing in several tissues. These features suggest that the transcriptional and translational regulation of ataxin-1, the SCA1 encoded protein, may be complex.