强直性营养不良
遗传学
生物
基因
三核苷酸重复扩增
内含子
RNA剪接
肌营养不良
突变
锌指
核糖核酸
转录因子
等位基因
作者
Christina L. Liquori,K. Ricker,Melinda L. Moseley,Jennifer F. Jacobsen,Wolfram Kreß,Susan L. Naylor,John W. Day,Laura P.W. Ranum
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2001-08-03
卷期号:293 (5531): 864-867
被引量:1133
标识
DOI:10.1126/science.1062125
摘要
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in the 3′ untranslated region of the dystrophia myotonica–protein kinase gene ( DMPK ). Several mechanisms have been invoked to explain how this mutation, which does not alter the protein-coding portion of a gene, causes the specific constellation of clinical features characteristic of DM. We now report that DM2 is caused by a CCTG expansion (mean ∼5000 repeats) located in intron 1 of the zinc finger protein 9 ( ZNF9 ) gene. Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2.
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