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The effect of myotonic dystrophy transcript levels and location on muscle differentiation.

Abstract：

:In myotonic dystrophy type I (DM1), nuclear retention of mutant DMPK transcripts compromises muscle cell differentiation. Although several reports have identified molecular defects in myogenesis, it remains still unclear how exactly the retention of the mutant transcripts induces this defect. We have recently created a novel cellular model in which the mutant DMPK 3' UTR transcripts were released to the cytoplasm of myoblasts by using the WPRE genetic element. As a result, muscle cell differentiation was repaired. In this paper, this cellular model was further exploited to investigate the effect of the levels and location of the mutant transcripts on muscle differentiation. Results show that the levels of these transcripts were proportional to the inhibition of both the initial fusion of myoblasts and the maturity of myotubes. Moreover, the cytoplasmic export of the mutant RNAs to the cytoplasm caused less inhibition only in the initial fusion of myoblasts.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Mastroyiannopoulos NP,Chrysanthou E,Kyriakides TC,Uney JB,Mahadevan MS,Phylactou LA

doi

10.1016/j.bbrc.2008.10.031

subject

Has Abstract

pub_date

2008-12-12 00:00:00

pages

526-531

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(08)01974-8

journal_volume

377

pub_type

杂志文章

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