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 (Delta17), together with full-length dysferlin mRNA. Real-time polymerase chain reaction analysis of human myoblasts, myotubes, and normal skeletal muscle showed that Delta17 expression inversely correlates with muscle differentiation. Indeed, Delta17 is progressively replaced by the wild type as myoblast fusion proceeds, and it disappears in adult skeletal muscle. Conversely, Delta17 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.

Developmental and tissue-specific regulation of a novel dysferlin isoform / S. Salani, S. Lucchiari, F.R. Fortunato, M. Crimi, S.P. Corti, F. Locatelli, P. Bossolasco, N. Bresolin, G.P. Comi. - In: MUSCLE & NERVE. - ISSN 0148-639X. - 30:3(2004 Sep), pp. 366-374.

Developmental and tissue-specific regulation of a novel dysferlin isoform

F.R. Fortunato;S.P. Corti;N. Bresolin;G.P. Comi
2004-09

Abstract

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 (Delta17), together with full-length dysferlin mRNA. Real-time polymerase chain reaction analysis of human myoblasts, myotubes, and normal skeletal muscle showed that Delta17 expression inversely correlates with muscle differentiation. Indeed, Delta17 is progressively replaced by the wild type as myoblast fusion proceeds, and it disappears in adult skeletal muscle. Conversely, Delta17 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.
Genetic Variation ; Humans ; Cell Differentiation ; Organ Specificity ; Muscle Proteins ; Myoblasts, Skeletal ; Membrane Proteins ; Protein Isoforms ; RNA, Messenger ; Alternative Splicing ; Cells, Cultured ; Gene Expression Regulation, Developmental ; Sciatic Nerve
Settore MED/26 - Neurologia
MUSCLE & NERVE
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/207168
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