Human Molecular Genetics, Vol 6, 2257-2264, Copyright © 1997 by Oxford University Press
L Cartegni, MR di Barletta, R Barresi, S Squarzoni, P Sabatelli, N Maraldi, M Mora, C Di Blasi, F Cornelio, L Merlini, A Villa, F Cobianchi and D Toniolo
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked inherited disease
characterized by early contracture of the elbows, Achilles tendons and
post-cervical muscles, slow progressive muscle wasting and weakness and
cardiomyopathy presenting with arrhythmia and atrial paralysis: heart block
can eventually lead to sudden death. The EDMD geneencodes a novel
ubiquitous protein, emerin, which decorates the nuclear rim of many cell
types. Amino acid sequence homology and cellular localization suggested
that emerin is a member of the nuclear lamina-associated protein family.
These findings did not explain the role of emerin nor account for the
skeletal muscle- and heart-specific clinical manifestations associated with
the disorder. Now we report that emerin localizes to the inner nuclear
membrane, via its hydrophobic C-terminal domain, but that in heart and
cultured cardiomyocytes it is also associated with the intercalated discs.
We propose a general role for emerin in membrane anchorage to the
cytoskeleton. In the nuclear envelope emerin plays a ubiquitous and
dispensable role in association of the nuclear membrane with the lamina. In
heart its specific localization to desmosomes and fasciae adherentes could
account for the characteristic conduction defects described in patients.
ARTICLES
Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy
Institute of Genetics, Biochemistry and Evolution CNR, Via Abbiategrasso 207, 27100 Pavia, Italy.
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