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Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.

Abstract：

:Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein expression. Fourteen had mutations in the X-linked emerin gene, while three showed evidence of autosomal inheritance. Twelve of the 14 emerin mutations caused early termination of translation. An in-frame deletion of six amino acids from the C-terminal transmembrane helix caused almost complete absence of emerin from muscle with no localization to the nuclear membrane, although mRNA levels were normal. This shows that mutant emerin proteins are unstable if they are unable to integrate into a membrane. A 22 bp deletion in the promoter region was expected to result in reduced emerin production, but normal amounts of emerin of normal size were found in leucocytes and lymphoblastoid cell lines. This shows that DNA analysis is necessary to exclude emerin mutations in suspected X-linked EDMD. Emerin levels in female carriers often deviated from the expected 50% and this was due, in at least two families, to skewed emerin mRNA expression from the normal and mutated alleles. In one family with a novel deletion of the last three exons of the emerin gene, a carrier had a cardiomyopathy and very low emerin levels (<5% of normal) due to skewed X-inactivation. In the three autosomal cases of EDMD, emerin was normal on western blots of blood cells, which suggests that autosomal EDMD is not caused by indirect reduction of emerin levels.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Manilal S,Recan D,Sewry CA,Hoeltzenbein M,Llense S,Leturcq F,Deburgrave N,Barbot J,Man N,Muntoni F,Wehnert M,Kaplan J,Morris GE

doi

10.1093/hmg/7.5.855

subject

Has Abstract

pub_date

1998-05-01 00:00:00

pages

855-64

issue

5

eissn

0964-6906

issn

1460-2083

pii

ddb104

journal_volume

7

pub_type

杂志文章

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