Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

被引：553

作者：

Mankodi, A

Logigian, E

Callahan, L

McClain, C

White, R

Henderson, D

Krym, M

Thornton, CA

机构：

[1] Univ Rochester, Sch Med & Dent, Dept Neurol, Rochester, NY 14642 USA

[2] Univ Rochester, Sch Med & Dent, Dept Neurobiol & Anat, Rochester, NY 14642 USA

来源：

SCIENCE | 2000年 / 289卷 / 5485期

关键词：

D O I：

10.1126/science.289.5485.1769

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Myotonic dystrophy (DM), the most common form of muscular dystrophy in adult humans, results from expansion of a CTC repeat in the 3' untranslated region of the DMPK gene. The mutant DMPK messenger RNA (mRNA) contains an expanded CUG repeat and is retained in the nucleus. We have expressed an untranslated CUG repeat in an unrelated mRNA in transgenic mice. Mice that expressed expanded CUG repeats developed myotonia and myopathy, whereas mice expressing a nonexpanded repeat did not, Thus, transcripts with expanded CUG repeats are sufficient to generate a DM phenotype. This result supports a role for RNA gain of function in disease pathogenesis.

引用

页码：1769 / 1772

页数：4

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