Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

American Journal of Human Genetics

Volumn 86, Issue 2, 2010, Pages 213-221

  Bolduc, Véronique ^a   Marlow, Gareth ^b   Boycott, Kym M ^c   Saleki, Khalil ^b   Inoue, Hiroshi ^d   Kroon, Johan ^b   Itakura, Mitsuo ^d   Robitaille, Yves ^e   Parent, Lucie ^f   Baas, Frank ^g   Mizuta, Kuniko ^h   Kamata, Nobuyuki ^h   Richard, Isabelle ⁱ   Linssen, Wim H J P ^j   Mahjneh, Ibrahim ^k   de Visser, Marianne ^g   Bashir, Rumaisa ^b   Brais, Bernard ^a  

^a Centre Hospitalier   (Canada)

^b DURHAM UNIVERSITY   (United Kingdom)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d UNIVERSITY OF TOKUSHIMA   (Japan)

^e UNIVERSITY OF MONTREAL   (Canada)

^f UNIVERSITÉ DE MONTRÉAL   (Canada)

^g ACADEMIC MEDICAL CENTER   (Netherlands)

^h HIROSHIMA UNIVERSITY   (Japan)

ⁱ GÉNÉTHON   (France)

^j ONZE LIEVE VROUWE GASTHUIS   (Netherlands)

^k UNIVERSITY OF OULU   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANION CHANNEL; ANOCTAMIN 5; DYSFERLIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BASE PAIRING; BICEPS BRACHII MUSCLE; CANADA; CELL MEMBRANE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; FEMALE; FIBROBLAST; FINLAND; FRANCE; GASTROCNEMIUS MUSCLE; GENE DUPLICATION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MIYOSHI MYOPATHY; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; QUADRICEPS FEMORIS MUSCLE; RECESSIVE INHERITANCE; RNA SPLICING; STOP CODON;

EID: 76249096210     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.12.013     Document Type: Article

References (46)

1. Guglieri M., Straub V., Bushby K., and Lochmuller H. Limb-girdle muscular dystrophies. Curr. Opin. Neurol. 21 (2008) 576-584
2. Norwood F., de Visser M., Eymard B., Lochmuller H., and Bushby K. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur. J. Neurol. 14 (2007) 1305-1312
3. Cohn R.D., and Campbell K.P. Molecular basis of muscular dystrophies. Muscle Nerve 23 (2000) 1456-1471
4. Allikian M.J., and McNally E.M. Processing and assembly of the dystrophin glycoprotein complex. Traffic 8 (2007) 177-183
5. Bansal D., Miyake K., Vogel S.S., Groh S., Chen C.C., Williamson R., McNeil P.L., and Campbell K.P. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423 (2003) 168-172
6. Cai C., Weisleder N., Ko J.K., Komazaki S., Sunada Y., Nishi M., Takeshima H., and Ma J. Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. J. Biol. Chem. 284 (2009) 15894-15902
7. Glover L., and Brown Jr. R.H. Dysferlin in membrane trafficking and patch repair. Traffic 8 (2007) 785-794
8. Han R., and Campbell K.P. Dysferlin and muscle membrane repair. Curr. Opin. Cell Biol. 19 (2007) 409-416
9. Malicdan M.C., and Nonaka I. Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles. Neurol. India 56 (2008) 314-324
10. Bashir R., Britton S., Strachan T., Keers S., Vafiadaki E., Lako M., Richard I., Marchand S., Bourg N., Argov Z., et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat. Genet. 20 (1998) 37-42
11. Liu J., Aoki M., Illa I., Wu C., Fardeau M., Angelini C., Serrano C., Urtizberea J.A., Hentati F., Hamida M.B., et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat. Genet. 20 (1998) 31-36
12. Urtizberea J.A., Bassez G., Leturcq F., Nguyen K., Krahn M., and Levy N. Dysferlinopathies. Neurol. India 56 (2008) 289-297
13. Galindo B.E., and Vacquier V.D. Phylogeny of the TMEM16 protein family: Some members are overexpressed in cancer. Int. J. Mol. Med. 16 (2005) 919-924
14. Hartzell H.C., Yu K., Xiao Q., Chien L.T., and Qu Z. Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels. J. Physiol. 587 (2009) 2127-2139
15. Caputo A., Caci E., Ferrera L., Pedemonte N., Barsanti C., Sondo E., Pfeffer U., Ravazzolo R., Zegarra-Moran O., and Galietta L.J. TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity. Science 322 (2008) 590-594
16. Schroeder B.C., Cheng T., Jan Y.N., and Jan L.Y. Expression cloning of TMEM16A as a calcium-activated chloride channel subunit. Cell 134 (2008) 1019-1029
17. Yang Y.D., Cho H., Koo J.Y., Tak M.H., Cho Y., Shim W.S., Park S.P., Lee J., Lee B., Kim B.M., et al. TMEM16A confers receptor-activated calcium-dependent chloride conductance. Nature 455 (2008) 1210-1215
18. Stohr H., Heisig J.B., Benz P.M., Schoberl S., Milenkovic V.M., Strauss O., Aartsen W.M., Wijnholds J., Weber B.H., and Schulz H.L. TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals. J. Neurosci. 29 (2009) 6809-6818
19. Stephan A.B., Shum E.Y., Hirsh S., Cygnar K.D., Reisert J., and Zhao H. ANO2 is the cilial calcium-activated chloride channel that may mediate olfactory amplification. Proc. Natl. Acad. Sci. USA 106 (2009) 11776-11781
20. Almaca J., Tian Y., Aldehni F., Ousingsawat J., Kongsuphol P., Rock J.R., Harfe B.D., Schreiber R., and Kunzelmann K. TMEM16 proteins produce volume regulated chloride currents that are reduced in mice lacking TMEM16A. J. Biol. Chem. 284 (2009) 28571-28578
21. Jarry J., Rioux M.F., Bolduc V., Robitaille Y., Khoury V., Thiffault I., Tetreault M., Loisel L., Bouchard J.P., and Brais B. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain 130 (2007) 368-380
22. Carr I.M., Flintoff K.J., Taylor G.R., Markham A.F., and Bonthron D.T. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum. Mutat. 27 (2006) 1041-1046
23. Linssen W.H., de Visser M., Notermans N.C., Vreyling J.P., Van Doorn P.A., Wokke J.H., Baas F., and Bolhuis P.A. Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. Neuromuscul. Disord. 8 (1998) 317-320
24. Jaiswal J.K., Marlow G., Summerill G., Mahjneh I., Mueller S., Hill M., Miyake K., Haase H., Anderson L.V., Richard I., et al. Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. Traffic 8 (2007) 77-88
25. Tsutsumi S., Inoue H., Sakamoto Y., Mizuta K., Kamata N., and Itakura M. Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1. Biochem. Biophys. Res. Commun. 331 (2005) 1099-1106
26. Brogna S., and Wen J. Nonsense-mediated mRNA decay (NMD) mechanisms. Nat. Struct. Mol. Biol. 16 (2009) 107-113
27. Hellemans J., Mortier G., De Paepe A., Speleman F., and Vandesompele J. qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol. 8 (2007) R19
28. Tsutsumi S., Kamata N., Vokes T.J., Maruoka Y., Nakakuki K., Enomoto S., Omura K., Amagasa T., Nagayama M., Saito-Ohara F., et al. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am. J. Hum. Genet. 74 (2004) 1255-1261
29. Mizuta K., Tsutsumi S., Inoue H., Sakamoto Y., Miyatake K., Miyawaki K., Noji S., Kamata N., and Itakura M. Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. Biochem. Biophys. Res. Commun. 357 (2007) 126-132
30. Selcen D., Stilling G., and Engel A.G. The earliest pathologic alterations in dysferlinopathy. Neurology 56 (2001) 1472-1481
31. Cenacchi G., Fanin M., De Giorgi L.B., and Angelini C. Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. J. Clin. Pathol. 58 (2005) 190-195
32. Rock J.R., and Harfe B.D. Expression of TMEM16 paralogs during murine embryogenesis. Dev. Dyn. 237 (2008) 2566-2574
33. Ousingsawat J., Martins J.R., Schreiber R., Rock J.R., Harfe B.D., and Kunzelmann K. Loss of TMEM16A causes a defect in epithelial Ca2+ dependent chloride transport. J. Biol. Chem. 284 (2009) 28698-28703
34. Rock J.R., O'Neal W.K., Gabriel S.E., Randell S.H., Harfe B.D., Boucher R.C., and Grubb B.R. Transmembrane protein 16A (TMEM16A) is a Ca2+-regulated Cl- secretory channel in mouse airways. J. Biol. Chem. 284 (2009) 14875-14880
35. Hartzell C., Putzier I., and Arreola J. Calcium-activated chloride channels. Annu. Rev. Physiol. 67 (2005) 719-758
36. Aromataris E.C., and Rychkov G.Y. ClC-1 chloride channel: Matching its properties to a role in skeletal muscle. Clin. Exp. Pharmacol. Physiol. 33 (2006) 1118-1123
37. Kourie J.I., Laver D.R., Ahern G.P., and Dulhunty A.F. A calcium-activated chloride channel in sarcoplasmic reticulum vesicles from rabbit skeletal muscle. Am. J. Physiol. 270 (1996) C1675-C1686
38. Fein A., and Terasaki M. Rapid increase in plasma membrane chloride permeability during wound resealing in starfish oocytes. J. Gen. Physiol. 126 (2005) 151-159
39. Klinge L., Laval S., Keers S., Haldane F., Straub V., Barresi R., and Bushby K. From T-tubule to sarcolemma: Damage-induced dysferlin translocation in early myogenesis. FASEB J. 21 (2007) 1768-1776
40. Ampong B.N., Imamura M., Matsumiya T., Yoshida M., and Takeda S. Intracellular localization of dysferlin and its association with the dihydropyridine receptor. Acta Myol. 24 (2005) 134-144
41. Cai C., Masumiya H., Weisleder N., Matsuda N., Nishi M., Hwang M., Ko J.K., Lin P., Thornton A., Zhao X., et al. MG53 nucleates assembly of cell membrane repair machinery. Nat. Cell Biol. 11 (2009) 56-64
42. Lennon N.J., Kho A., Bacskai B.J., Perlmutter S.L., Hyman B.T., and Brown Jr. R.H. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J. Biol. Chem. 278 (2003) 50466-50473
43. McNeil A.K., Rescher U., Gerke V., and McNeil P.L. Requirement for annexin A1 in plasma membrane repair. J. Biol. Chem. 281 (2006) 35202-35207
44. Huang Y., Laval S.H., van Remoortere A., Baudier J., Benaud C., Anderson L.V., Straub V., Deelder A., Frants R.R., den Dunnen J.T., et al. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J. 21 (2007) 732-742
45. Hernandez-Deviez D.J., Howes M.T., Laval S.H., Bushby K., Hancock J.F., and Parton R.G. Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J. Biol. Chem. 283 (2008) 6476-6488
46. McNeil P.L., and Kirchhausen T. An emergency response team for membrane repair. Nat. Rev. Mol. Cell Biol. 6 (2005) 499-505