Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy

Developmental Dynamics

Volumn 237, Issue 2, 2008, Pages 403-410

  Hao, Minqi ^a   Akrami, Kevan ^a   Wei, Ke ^a   De Diego, Carlos ^a   Che, Nam ^a   Ku, Jeong Hee ^a   Tidball, James ^a   Graves, Michael C ^a   Shieh, Perry B ^a   Chen, Fabian ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Chloride channel; Muscleblind; Muscular dystrophy; Myotonic dystrophy

Indexed keywords

CHLORIDE CHANNEL; MESSENGER RNA; PROTEIN MBNL2; RNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; GENE; MBNL2 GENE; MOUSE; MYOTONIC DYSTROPHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; ZINC FINGER MOTIF;

MUS;

EID: 39749160587     PISSN: 10588388     EISSN: 10970177     Source Type: Journal    
DOI: 10.1002/dvdy.21428     Document Type: Article

References (29)

1. Artero R, Prokop A, Paricio N, Begemann G, Pueyo I, Mlodzik M, Perez‐Alonso M, Baylies MK. 1998. The muscleblind gene participates in the organization of Z‐bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2. Dev Biol 195: 131–143.
2. Begemann G, Paricio N, Artero R, Kiss I, Perez‐Alonso M, Mlodzik M. 1997. muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His‐type zinc‐finger‐containing proteins. Development 124: 4321–4331.
3. Berg J, Jiang H, Thornton CA, Cannon SC. 2004. Truncated ClC‐1 mRNA in myotonic dystrophy exerts a dominant‐negative effect on the Cl current. Neurology 63: 2371–2375.
4. Bertorini TE. 2002. Clinical evaluation and diagnostic tests for neuromuscular disorders. Woburn, MA: Elsevier Science, Inc.
5. Charlet BN, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA. 2002. Loss of the muscle‐specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 10: 45–53.
6. Dansithong W, Paul S, Comai L, Reddy S. 2004. MBNL1 is the primary determinant of focus formation and aberrant IR splicing in DM1. J Biol Chem 280: 5773–5780.
7. Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD. 2002. Three proteins, MBNL, MBLL and MBXL, co‐localize in vivo with nuclear foci of expanded‐repeat transcripts in DM1 and DM2 cells. Hum Mol Genet 11: 805–814.
8. Harper PS. 2001. Myotonic dystrophy. London: WB Saunders.
9. Ho TH, Charlet BN, Poulos MG, Singh G, Swanson MS, Cooper TA. 2004. Muscleblind proteins regulate alternative splicing. EMBO J 23: 3103–3112.
10. Jansen G, Groenen PJ, Bachner D, Jap PH, Coerwinkel M, Oerlemans F, van den Broek W, Gohlsch B, Pette D, Plomp JJ, Molenaar PC, Nederhoff MG, van Echteld CJ, Dekker M, Berns A, Hameister H, Wieringa B. 1996. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet 13: 316–324.
11. Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS. 2003a. A muscleblind knockout model for myotonic dystrophy. Science 302: 1978–1980.
12. Kanadia RN, Urbinati CR, Crusselle VJ, Luo D, Lee YJ, Harrison JK, Oh SP, Swanson MS. 2003b. Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3. Gene Expr Patterns 3: 459–462.
13. Kanadia RN, Shin J, Yuan Y, Beattie SG, Wheeler TM, Thornton CA, Swanson MS. 2006. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci U S A 103: 11748–11753.
14. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann‐Horn F, Grzeschik KH, Jentsch TJ. 1992. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257: 797–800.
15. Laws N, Hoey A. 2004. Progression of kyphosis in mdx mice. J Appl Physiol 97: 1970–1977.
16. Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA. 2006. Failure of MBNL1‐dependent post‐natal splicing transitions in myotonic dystrophy. Hum Mol Genet 15: 2087–2097.
17. Logigian EL, Blood CL, Dilek N, Martens WB, Moxley RT IV, Wiegner AW, Thornton CA, Moxley RT III. 2005. Quantitative analysis of the “warm‐up” phenomenon in myotonic dystrophy type 1. Muscle Nerve 32: 35–42.
18. Machuca‐Tzili L, Brook D, Hilton‐Jones D. 2005. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 32: 1–18.
19. Mahadevan MS, Yadava RS, Yu Q, Balijepalli S, Frenzel‐McCardell CD, Bourne TD, Phillips LH. 2006. Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nat Genet 38: 1066–1070.
20. Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA. 2000. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289: 1769–1773.
21. Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA. 2002. Expanded CUG repeats trigger aberrant splicing of ClC‐1 chloride channel pre‐mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10: 35–44.
22. Miller JW, Urbinati CR, Teng‐Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS. 2000. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19: 4439–4448.
23. O'Cochlain DF, Perez‐Terzic C, Reyes S, Kane GC, Behfar A, Hodgson DM, Strommen JA, Liu XK, van den Broek W, Wansink DG, Wieringa B, Terzic A. 2004. Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy. Hum Mol Genet 13: 2505–2518.
24. Ranum LP, Cooper TA. 2006. RNA‐mediated neuromuscular disorders. Annu Rev Neurosci 29: 259–277.
25. Skarnes WC, von Melchner H, Wurst W, Hicks G, Nord AS, Cox T, Young SG, Ruiz P, Soriano P, Tessier‐Lavigne M, Conklin BR, Stanford WL, Rossant J. 2004. A public gene trap resource for mouse functional genomics. Nat Genet 36: 543–544.
26. Squillace RM, Chenault DM, Wang EH. 2002. Inhibition of muscle differentiation by the novel muscleblind‐related protein CHCR. Dev Biol 250: 218–230.
27. Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC, Ferrin TE. 2003. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Nucleic Acids Res 31: 278–281.
28. Ule J, Darnell RB. 2006. RNA binding proteins and the regulation of neuronal synaptic plasticity. Curr Opin Neurobiol 16: 102–110.
29. Xu X, Yang D, Ding JH, Wang W, Chu PH, Dalton ND, Wang HY, Bermingham JR Jr, Ye Z, Liu F, Rosenfeld MG, Manley JL, Ross J Jr, Chen J, Xiao RP, Cheng H, Fu XD. 2005. ASF/SF2‐regulated CaMKIIdelta alternative splicing temporally reprograms excitation‐contraction coupling in cardiac muscle. Cell 120: 59–72.