Dystrophin gene transcripts skipping the mdx mutation.

Abstract:

:The mdx mouse, an animal model used to study Duchenne muscular dystrophy, has a nonsense mutation in exon 23 of the dystrophin gene which should result in a truncated protein that cannot be correctly localized at the sarcolemma of the muscle fibers. Immunohistochemical staining with antidystrophin antibodies has shown that while most of the muscle tissue is dystrophin-negative, a small percentage of muscle fibers is clearly dystrophin-positive and has somehow bypassed the primary nonsense mutation. A sensitive nested polymerase chain reaction-based examination of dystrophin gene transcripts around the mdx mutation has revealed several alternatively processed transcripts. Four mRNA species skipped the mutation in exon 23, were in-frame, and could be translated into a shorter but still functional dystrophin protein. Specific tests for these transcripts demonstrated these were also present in normal mouse muscle tissue.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Wilton SD,Dye DE,Laing NG

doi

10.1002/(sici)1097-4598(199706)20:6<728::aid-mus10

subject

Has Abstract

pub_date

1997-06-01 00:00:00

pages

728-34

issue

6

eissn

0148-639X

issn

1097-4598

pii

10.1002/(SICI)1097-4598(199706)20:6<728::AID-MUS10

journal_volume

20

pub_type

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