Abstract
Deficiency of the skeletal muscle membrane protein dysferlin causes the related and overlapping neuromuscular disorders limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. This paper describes the preliminary characterisation of the human dysferlin promoter. The transcriptional start site of dysferlin has been mapped using 5′ RACE PCR, which extended the length of the known 5′ UTR to 914 bp. Promoter elements have been mapped by assessing the ability of fragments from this region to activate the expression of a luciferase reporter gene borne on a plasmid transfected into differentiated and undifferentiated C2C12 mouse myoblast cells. Finally, the core promoter region has been screened for mutations in suspected dysferlinopathy patients.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Bashir R, Britton S, Strachan T et al.: A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998; 20: 37–42.
Liu J, Aoki M, Illa I et al.: Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20: 31–36.
Anderson LV, Davison K, Moss JA et al.: Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 1999; 8: 855–861.
Matsuda C, Aoki M, Hayashi YK, Arahata K, Brown RH : Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 1999; 53: 1119–1122.
Matsuda C, Hayashi YK, Ogawa M et al.: The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001; 10: 1761–1766.
Piccolo F, Moore S A, Ford GC, Campbell KP : Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 2000; 48: 902–912.
Kozak M : Constraints on reinitiation of translation in mammals. Nucleic Acids Res 2001; 29: 5226–5232.
Linssen WHJP, de Visser M, Notermans NC et al.: Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. Neuromusc Disord 1998; 8: 317–320.
Acknowledgements
This work was supported by Action Research and the Muscular Dystrophy Campaign
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Foxton, R., Laval, S. & Bushby, K. Characterisation of the dysferlin skeletal muscle promoter. Eur J Hum Genet 12, 127–131 (2004). https://doi.org/10.1038/sj.ejhg.5201092
Received:
Revised:
Accepted:
Published:
Issue date:
DOI: https://doi.org/10.1038/sj.ejhg.5201092
Keywords
This article is cited by
-
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
European Journal of Human Genetics (2011)
-
Identification and characterization of a novel human dysferlin transcript: dysferlin_v1
Human Genetics (2006)
