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Developmental and tissue‐specific regulation of a novel dysferlin isoform
Author(s) -
Salani Sabrina,
Lucchiari Sabrina,
Fortunato Francesco,
Crimi Marco,
Corti Stefania,
Locatelli Federica,
Bossolasco Patrizia,
Bresolin Nereo,
Comi Giacomo Pietro
Publication year - 2004
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20106
Subject(s) - dysferlin , myogenesis , gene isoform , myocyte , biology , skeletal muscle , muscular dystrophy , myopathy , limb girdle muscular dystrophy , microbiology and biotechnology , mutation , anatomy , genetics , gene
Dysferlin plays an essential role in the muscle repair machinery, and its deficiency is associated with limb‐girdle muscular dystrophy type 2B and with two different distal myopathies (Miyoshi myopathy and distal anterior compartment myopathy). Our aims were to characterize the pattern of dysferlin expression during myogenic cell differentiation and to assess possible differentially spliced isoforms of the DYSF gene. Human primary myogenic cells express a splice variant of dysferlin mRNA lacking exon 17 (Δ17), together with full‐length dysferlin mRNA. Real‐time polymerase chain reaction analysis of human myoblasts, myotubes, and normal skeletal muscle showed that Δ17 expression inversely correlates with muscle differentiation. Indeed, Δ17 is progressively replaced by the wild type as myoblast fusion proceeds, and it disappears in adult skeletal muscle. Conversely, Δ17 is the predominant dysferlin variant in mature peripheral nerve. Our findings suggest that the two proteins play different roles in myogenic cell differentiation and that dysferlin function in peripheral nerve might be accomplished by this novel isoform. Muscle Nerve 30: 366–374, 2004