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Human Molecular Genetics, 2000, Vol. 9, No. 2 217-226
© 2000 Oxford University Press

Myoferlin, a candidate gene and potential modifier of muscular dystrophy

Dawn Belt Davis1, Anthony J. Delmonte2, Chantal T. Ly2 and Elizabeth M. McNally2,3,+

Departments of 1Pathology, 2Medicine and 3Human Genetics, University of Chicago, Chicago, IL 60637, USA

Dysferlin, the gene product of the limb girdle muscular dystrophy (LGMD) 2B locus, encodes a membrane-associated protein with homology to Caenorhabditis elegans fer-1. Humans with mutations in dysferlin (DYSF) develop muscle weakness that affects both proximal and distal muscles. Strikingly, the phenotype in LGMD 2B patients is highly variable, but the type of mutation in DYSF cannot explain this phenotypic variability. Through electronic database searching, we identified a protein highly homologous to dysferlin that we have named myoferlin. Myoferlin mRNA was highly expressed in cardiac muscle and to a lesser degree in skeletal muscle. However, antibodies raised to myoferlin showed abundant expression of myoferlin in both cardiac and skeletal muscle. Within the cell, myoferlin was associated with the plasma membrane but, unlike dysferlin, myoferlin was also associated with the nuclear membrane. Ferlin family members contain C2 domains, and these domains play a role in calcium-mediated membrane fusion events. To investigate this, we studied the expression of myoferlin in the mdx mouse, which lacks dystrophin and whose muscles undergo repeated rounds of degeneration and regeneration. We found upregulation of myoferlin at the membrane in mdx skeletal muscle. Thus, myoferlin (MYOF) is a candidate gene for muscular dystrophy and cardiomyopathy, or possibly a modifier of the muscular dystrophy phenotype.

+ To whom correspondence should be addressed at: Section of Cardiology, Department of Medicine, 5841 South Maryland, MC 6088, Chicago, IL 60637 USA. Tel: +1 773 702 2672; Fax: +1 773 702 2681; Email: emcnally@medicine.bsd.uchicago.edu


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