强直性营养不良
RNA剪接
生物
三核苷酸重复扩增
核糖核酸
选择性拼接
突变体
基因
RNA结合蛋白
肌营养不良
遗传学
信使核糖核酸
细胞生物学
等位基因
作者
Rahul N. Kanadia,Karen A. Johnstone,Ami Mankodi,Codrin Lungu,Charles A. Thornton,Douglas W. Esson,Adrian M. Timmers,William W. Hauswirth,Maurice S. Swanson
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2003-12-12
卷期号:302 (5652): 1978-1980
被引量:668
标识
DOI:10.1126/science.1088583
摘要
The neuromuscular disease myotonic dystrophy (DM) is caused by microsatellite repeat expansions at two different genomic loci. Mutant DM transcripts are retained in the nucleus together with the muscleblind (Mbnl) proteins, and these abnormal RNAs somehow interfere with pre-mRNA splicing regulation. Here, we show that disruption of the mouse Mbnl1 gene leads to muscle, eye, and RNA splicing abnormalities that are characteristic of DM disease. Our results support the hypothesis that manifestations of DM can result from sequestration of specific RNA binding proteins by a repetitive element expansion in a mutant RNA.
科研通智能强力驱动
Strongly Powered by AbleSci AI