Dysferlin

From Wikipedia, the free encyclopedia

Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

Identifiers

DYSF; FER1L1; FLJ00175; FLJ90168; LGMD2B

External IDs

OMIM: 603009 MGI: 1349385 HomoloGene: 20748

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• integral to membrane • sarcolemma
Biological Process:	• plasma membrane repair • muscle contraction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003494 (mRNA)
NP_003485 (protein)

NM_001077694 (mRNA)
NP_001071162 (protein)

Location

Chr 2: 71.53 - 71.77 Mb

Chr 6: 83.99 - 84.18 Mb

Pubmed search

[1]

[2]

Dysferlin is a protein linked with skeletal muscle repair.^[1] A defect in the dysferlin gene, chromosome location 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy (MM) and Limb-girdle muscular dystrophy type 2B (LGMD2B). A reduction or absence of dysferlin usually becomes apparent in the third or forth decade of life and is charaterised by weakness and wasting of various voluntary skeletal muscles.^[2]

The Jain Foundation Inc. is focused on finding a cure for this specific disease. The foundation is sponsoring targeted research and helping educate the patients on the importance of determining the mutations in their dysferlin gene.^[3]

[edit] References

^ Entrez Gene: DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive).
^ Leiden University Medical Center, Center for Human and Clinical Genetics - Dysferlin Retrieved 21 June 2007.
^ Jain Foundation Retrieved 21 June 2007.

[edit] Further reading

Bejaoui K, Hirabayashi K, Hentati F, et al. (1995). "Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14.". Neurology 45 (4): 768–72. PMID 7723968.
Bashir R, Strachan T, Keers S, et al. (1994). "A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.". Hum. Mol. Genet. 3 (3): 455–7. PMID 8012357.
Passos-Bueno MR, Richard I, Vainzof M, et al. (1993). "Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.". J. Med. Genet. 30 (5): 385–7. PMID 8320700.
Liu J, Aoki M, Illa I, et al. (1998). "Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.". Nat. Genet. 20 (1): 31–6. doi:10.1038/1682. PMID 9731526.
Bashir R, Britton S, Strachan T, et al. (1998). "A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.". Nat. Genet. 20 (1): 37–42. doi:10.1038/1689. PMID 9731527.
Anderson LV, Davison K, Moss JA, et al. (1999). "Dysferlin is a plasma membrane protein and is expressed early in human development.". Hum. Mol. Genet. 8 (5): 855–61. PMID 10196375.
Weiler T, Bashir R, Anderson LV, et al. (1999). "Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).". Hum. Mol. Genet. 8 (5): 871–7. PMID 10196377.
Matsuda C, Aoki M, Hayashi YK, et al. (1999). "Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy.". Neurology 53 (5): 1119–22. PMID 10496277.
Illa I, Serrano-Munuera C, Gallardo E, et al. (2001). "Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.". Ann. Neurol. 49 (1): 130–4. PMID 11198284.
Aoki M, Liu J, Richard I, et al. (2001). "Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.". Neurology 57 (2): 271–8. PMID 11468312.
Matsuda C, Hayashi YK, Ogawa M, et al. (2002). "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.". Hum. Mol. Genet. 10 (17): 1761–6. PMID 11532985.
Ikezoe K, Furuya H, Ohyagi Y, et al. (2003). "Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress.". Acta Neuropathol. 105 (6): 603–9. doi:10.1007/s00401-003-0686-1. PMID 12664320.
von Tell D, Bruder CE, Anderson LV, et al. (2003). "Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus.". Neurogenetics 4 (4): 173–7. doi:10.1007/s10048-003-0154-z. PMID 12836053.
Lennon NJ, Kho A, Bacskai BJ, et al. (2004). "Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing.". J. Biol. Chem. 278 (50): 50466–73. doi:10.1074/jbc.M307247200. PMID 14506282.
Katz JS, Rando TA, Barohn RJ, et al. (2003). "Late-onset distal muscular dystrophy affecting the posterior calves.". Muscle Nerve 28 (4): 443–8. doi:10.1002/mus.10458. PMID 14506716.
Confalonieri P, Oliva L, Andreetta F, et al. (2004). "Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study.". J. Neuroimmunol. 142 (1-2): 130–6. PMID 14512171.
Foxton RM, Laval SH, Bushby KM (2004). "Characterisation of the dysferlin skeletal muscle promoter.". Eur. J. Hum. Genet. 12 (2): 127–31. doi:10.1038/sj.ejhg.5201092. PMID 14560310.
Cagliani R, Fortunato F, Giorda R, et al. (2004). "Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.". Neuromuscul. Disord. 13 (10): 788–95. PMID 14678801.
Capanni C, Sabatelli P, Mattioli E, et al. (2004). "Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition.". Exp. Mol. Med. 35 (6): 538–44. PMID 14749532.
Brüss M, Homann J, Molderings GJ (2004). "[Dysferlinopathy as an extrahepatic cause for the elevation of serum transaminases]". Med. Klin. (Munich) 99 (6): 326–9. doi:10.1007/s00063-004-1046-1. PMID 15221058.