Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat-Reference-Cited by-同舟云学术

Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat

Published:2000-09-08 Issue:5485 Volume:289 Page:1769-1772
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Mankodi Ami¹,Logigian Eric¹,Callahan Linda²,McClain Carolyn¹,White Robert¹,Henderson Don¹,Krym Matt¹,Thornton Charles A.¹

Affiliation:

1. Department of Neurology,

2. Department of Neurobiology and Anatomy, School of Medicine and Dentistry, University of Rochester, Box 673, 601 Elmwood Avenue, Rochester, NY 14642, USA.

Abstract

Myotonic dystrophy (DM), the most common form of muscular dystrophy in adult humans, results from expansion of a CTG 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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference42 articles.

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