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

Y. Mizuno, A. A. Puca, K. F. O'Brien, A. H. Beggs, L. M. Kunkel

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Desmuslin is an alpha-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.

Original languageEnglish
Pages (from-to)8
Number of pages1
JournalBMC genetics [electronic resource]
Volume2
Issue number1
Publication statusPublished - 2001

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Intermediate Filament Proteins
Single Nucleotide Polymorphism
Chromosomes
Nonsense Codon
Muscular Diseases
Genes
Exons
Distal Myopathies
Mutation
Proteins
Desmin
Nucleic Acid Databases
desmuslin
Fathers
Myocardium
Skeletal Muscle
Phenotype
Amino Acids
Muscles
DNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. / Mizuno, Y.; Puca, A. A.; O'Brien, K. F.; Beggs, A. H.; Kunkel, L. M.

In: BMC genetics [electronic resource], Vol. 2, No. 1, 2001, p. 8.

Research output: Contribution to journalArticle

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T1 - Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

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AU - Puca, A. A.

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AU - Beggs, A. H.

AU - Kunkel, L. M.

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