Human Molecular Genetics, Vol 8, 353-359, Copyright © 1999 by Oxford University Press
S Manilal, CA Sewry, A Pereboev, N Man, P Gobbi, S Hawkes, DR Love and GE Morris
Emerin is a nuclear membrane protein which is missing or defective in
Emery-Dreifuss muscular dystrophy (EDMD). It is one member of a family of
lamina-associated proteins which includes LAP1, LAP2 and lamin B receptor
(LBR). A panel of 16 monoclonal antibodies (mAbs) has been mapped to six
specific sites throughout the emerin molecule using phage- displayed
peptide libraries and has been used to localize emerin in human and rabbit
heart. Several mAbs against different emerin epitopes did not recognize
intercalated discs in the heart, though they recognized cardiomyocyte
nuclei strongly, both at the rim and in intranuclear spots or channels. A
polyclonal rabbit antiserum against emerin did recognize both nuclear
membrane and intercalated discs but, after affinity purification against a
pure-emerin band on a western blot, it stained only the nuclear membrane.
These results would not be expected if immunostaining at intercalated discs
were due to a product of the emerin gene and, therefore, cast some doubt
upon the hypothesis that cardiac defects in EDMD are caused by absence of
emerin from intercalated discs. Although emerin was abundant in the
membranes of cardiomyocyte nuclei, it was absent from many non-myocyte
cells in the heart. This distribution of emerin was similar to that of
lamin A, a candidate gene for an autosomal form of EDMD. In contrast, lamin
B1 was absent from cardiomyocyte nuclei, showing that lamin B1 is not
essential for localization of emerin to the nuclear lamina. Lamin B1 is
also almost completely absent from skeletal muscle nuclei. In EDMD, the
additional absence of lamin B1 from heart and skeletal muscle nuclei which
already lack emerin may offer an alternative explanation of why these
tissues are particularly affected.
ARTICLES
Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy
MRIC Biochemistry Group, NE Wales Institute, Mold Road, Wrexham LL11 2AW, UK.
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