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Open Access Research article

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

Yuji Mizuno12, Annibale A Puca1, Kristine F O'Brien1, Alan H Beggs3 and Louis M Kunkel1*

Author Affiliations

1 Howard Hughes Medical Institute, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA

2 Current address:Department of Neurology, Gunma University School of Medicine, 3-39-22 Showa, Maebashi, Gunma 371-8511, Japan

3 Division of Genetics, Children's Hospital and Harvard Medical School, Boston, Massachusetts, 02115,USA

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BMC Genetics 2001, 2:8  doi:10.1186/1471-2156-2-8

Published: 20 June 2001

Abstract

Background

Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated in some forms of hereditary distal myopathy. As a muscle-specific intermediate filament protein, desmuslin is also a candidate for myopathies of unknown etiology.

Results

The desmuslin gene was localized to chromosome 15q26.3 by electronic screening of the human DNA sequence database. Primer pairs were designed to amplify the 5 exons of the desmuslin gene in 11 overlapping DNA segments. The desmuslin gene was screened for mutations in 71 patients with various forms of myopathy for which there was no known cause. In this analysis, 10 common and 2 rare amino acid altering single-nucleotide polymorphisms were identified, all of which were seen in a control population of individuals thus making these unlikely causes of the phenotype. Interestingly, one of the single-nucleotide polymorphisms found in a patient resulted in a premature stop codon in the first exon. The nonsense mutation was also detected in the patient's unaffected father and one unaffected control; it was detected in 0.44% (2/454) of unrelated chromosomes and is therefore predicted to have a homozygous frequency of 0.002%.

Conclusion

No causative mutations were found in the desmuslin gene. However, the single-nucleotide polymorphisms mapped in this study represent a well-mapped group that can be used for disequilibrium studies of this region of chromosome 15q26.3.