Dysferlin

Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Identifiers
Symbols	DYSF; FER1L1; FLJ00175; FLJ90168; LGMD2B
External IDs	OMIM: 603009 MGI: 1349385 HomoloGene: 20748 GeneCards: DYSF Gene
Gene Ontology Molecular function • calcium-dependent phospholipid binding Cellular component • plasma membrane • integral to membrane • cytoplasmic vesicle membrane • cytoplasmic vesicle • sarcolemma Biological process • plasma membrane repair • muscle contraction Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8291	26903
Ensembl	ENSG00000135636	ENSMUSG00000033788
UniProt	O75923	Q7TQI2
RefSeq (mRNA)	NM_001130455.1	NM_001077694
RefSeq (protein)	NP_001123927.1	NP_001071162
Location (UCSC)	Chr 2: 71.68 – 71.91 Mb	Chr 6: 83.96 – 84.16 Mb
PubMed search	[1]	[2]

Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene.^[1]

Dysferlin is linked with skeletal muscle repair.^[2] A defect in the DYSF gene, located on chromosome 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 fourth decade of life and is characterised by weakness and wasting of various voluntary skeletal muscles.^[3]

Interactions

Dysferlin has been shown to interact with Caveolin 3.^[4]

References

1. ^ Passos-Bueno MR, Richard I, Vainzof M, Fougerousse F, Weissenbach J, Broux O, Cohen D, Akiyama J, Marie SK, Carvalho AA (May 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. doi:10.1136/jmg.30.5.385. PMC 1016373. PMID 8320700. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1016373. 
2. ^ "Entrez Gene: DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8291. 
3. ^ Leiden University Medical Center, Center for Human and Clinical Genetics - Dysferlin Retrieved 21 June 2007.
4. ^ Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH (August 2001). "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle". Hum. Mol. Genet. 10 (17): 1761–6. doi:10.1093/hmg/10.17.1761. PMID 11532985. 

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. doi:10.1093/hmg/3.3.455. PMID 8012357. 
• 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. doi:10.1093/hmg/8.5.855. 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. doi:10.1093/hmg/8.5.871. 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. doi:10.1002/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0. 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. doi:10.1093/hmg/10.17.1761. 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. doi:10.1016/S0165-5728(03)00255-8. 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. doi:10.1016/S0960-8966(03)00133-0. 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. 
• Huang Y, de Morrée A, van der Maarel SM et al. (2008). "Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle". Human molecular genetics 17 (12): 1855–66. doi:10.1093/hmg/ddn081. PMC 2900895. PMID 18334579. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2900895. 

External links

• GeneReviews/NCBI/NIH/UW entry on Dysferlinopathy including Miyoshi Distal Myopathy (Miyoshi Myopathy), Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B)
• LOVD mutation database: DYSF
• The Jain Foundation is focused on finding a cure for dysferlin deficiency. The foundation is sponsoring targeted research and helping to educate patients on the importance of determining the mutations they carry in their dysferlin gene.