Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

Mutations in the STA gene at the Xq28 locus have been found in patients with X-linked Emery-Dreifuss muscular dystrophy (EDMD). This gene encodes a hitherto unknown protein named 'emerin'. To elucidate the subcellular localization of emerin, we raised two antisera against synthetic peptide...

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Bibliographic Details
Published inNature genetics Vol. 12; no. 3; pp. 254 - 259
Main Authors NAGANO, A, KOGA, R, OGAWA, M, KURANO, Y, KAWADA, J, OKADA, R, HAYASHI, Y. K, TSUKAHARA, T, ARAHATA, K
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group 01.03.1996
Subjects
Adolescent
Adult
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Diseases of striated muscles. Neuromuscular diseases
DNA
Fluorescent Antibody Technique, Indirect
Humans
Immunoblotting
Male
Medical sciences
Membrane Proteins - deficiency
Molecular Sequence Data
Muscles - cytology
Muscles - metabolism
Muscular Dystrophies - metabolism
Muscular Dystrophy, Emery-Dreifuss
Mutation
Neurology
Nuclear Envelope - metabolism
Nuclear Proteins
Subcellular Fractions
Thymopoietins - deficiency
Human
Neuromuscular diseases
Nervous system diseases
Membrane protein
Pathogenesis
Gene product
Deficiency
Cell biology
Genetic disease
Emery Dreifuss muscular dystrophy
Gene
Genetics
Mutation
Localization
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Summary:Mutations in the STA gene at the Xq28 locus have been found in patients with X-linked Emery-Dreifuss muscular dystrophy (EDMD). This gene encodes a hitherto unknown protein named 'emerin'. To elucidate the subcellular localization of emerin, we raised two antisera against synthetic peptide fragments predicted from emerin cDNA. Using both antisera, we found positive nuclear membrane staining in skeletal, cardiac and smooth muscles in the normal controls and in patients with neuromuscular diseases other than EDMD. In contrast, a deficiency in immunofluorescent staining of skeletal and cardiac muscle from EDMD patients was observed. A 34 kD protein is immunoreactive with the antisera--the protein is equivalent to that predicted for emerin. Together, our findings suggest the specific deficiency of emerin in the nuclear membrane of muscle cells in patients with EDMD.
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ISSN:1061-4036
1546-1718
DOI:10.1038/ng0396-254