Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of Myotonic Dystrophy

PLoS ONE

Volumn 5, Issue 3, 2010, Pages

  Matynia, Anna ^a   Ng, Carina Hoi ^b   Dansithong, Warunee ^b   Chiang, Andy ^b   Silva, Alcino J ^a   Reddy, Sita ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; HOMEODOMAIN PROTEIN; MBNL1 PROTEIN, MOUSE; MYOTONIC DYSTROPHY PROTEIN KINASE; PROTEIN SERINE THREONINE KINASE; RNA BINDING PROTEIN; SIX5 PROTEIN, MOUSE;

ANIMAL; ANIMAL BEHAVIOR; ARTICLE; BEHAVIOR; COGNITION; FEAR; GENE EXPRESSION REGULATION; GENETICS; HIPPOCAMPUS; HUMAN; MEMORY; METABOLISM; MOTIVATION; MOUSE; MUSCLE; MUTATION; MYOTONIC DYSTROPHY; PATHOLOGY; PHENOTYPE; PHYSIOLOGY; TRANSGENIC MOUSE;

ANIMALS; BEHAVIOR, ANIMAL; COGNITION; DNA-BINDING PROTEINS; FEAR; GENE EXPRESSION REGULATION; HIPPOCAMPUS; HOMEODOMAIN PROTEINS; HUMANS; MEMORY; MICE; MICE, TRANSGENIC; MOTIVATION; MUSCLES; MUTATION; MYOTONIC DYSTROPHY; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RNA-BINDING PROTEINS; SPATIAL BEHAVIOR;

EID: 78651236772     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0009857     Document Type: Article

References (34)

1. Harper PS (2001) Myotonic Dystrophy. Philadelphia: WB Saunders.
2. Boucher CA, King SK, Carey N, Krahe R, Winchester CL, et al. (1995) A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Genet 4: 1919-1925.
3. Fu YH, Pizzuti A, Fenwick RG, Jr., King J, Rajnarayan S, et al. (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258.
4. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 39 end of a transcript encoding a protein kinase family member. Cell 68: 799-808.
5. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, et al. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 39 untranslated region of the gene. Science 255: 1253-1255.
6. Fu YH, Friedman DL, Richards S, Pearlman JA, Gibbs RA, et al. (1993) Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260: 235-238.
7. Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 128: 995-1002.
8. Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT, 3rd (1997) Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet 16: 407-409.
9. Klesert TR, Otten AD, Bird TD, Tapscott SJ (1997) Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet 16: 402-406.
10. Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280: 737-741.
11. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, et al. (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19: 4439-4448.
12. Ho TH, Charlet BN, Poulos MG, Singh G, Swanson MS, et al. (2004) Muscleblind proteins regulate alternative splicing. EMBO J 23: 3103-3112.
13. Dansithong W, Paul S, Comai L, Reddy S (2005) MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem 280: 5773-5780.
14. Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, et al. (2006) Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. EMBO J 25: 4271-4283.
15. Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, et al. (2003) A muscleblind knockout model for myotonic dystrophy. Science 302: 1978-1980.
16. Antonini G, Soscia F, Giubilei F, De Carolis A, Gragnani F, et al. (2006) Healthrelated quality of life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning. J Rehabil Med 38: 181-185.
17. Rubinsztein JS, Rubinsztein DC, Goodburn S, Holland AJ (1998) Apathy and hypersomnia are common features of myotonic dystrophy. J Neurol Neurosurg Psychiatry 64: 510-515.
18. Colombo G, Grant KA (1992) NMDA receptor complex antagonists have ethanol-like discriminative stimulus effects. Ann N Y Acad Sci 654: 421-423.
19. Goossens E, Steyaert J, De Die-Smulders C, Willekens D, Fryns JP (2000) Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy. Genet Couns 11: 317-327.
20. Ekstrom AB, Hakenas-Plate L, Samuelsson L, Tulinius M, Wentz E (2008) Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms. Am J Med Genet B Neuropsychiatr Genet.
21. Turnpenny P, Clark C, Kelly K (1994) Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Genet 31: 300-305.
22. Berul CI, Maguire CT, Aronovitz MJ, Greenwood J, Miller C, et al. (1999) DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest 103: R1-7.
23. Reddy S, Smith DB, Rich MM, Leferovich JM, Reilly P, et al. (1996) Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 13: 325-335.
24. Wakimoto H, Maguire CT, Sherwood MC, Vargas MM, Sarkar PS, et al. (2002) Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene. J Interv Card Electrophysiol 7: 127-135.
25. Sarkar PS, Appukuttan B, Han J, Ito Y, Ai C, et al. (2000) Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet 25: 110-114.
26. Anagnostaras SG, Josselyn SA, Frankland PW, Silva AJ (2000) Computerassisted behavioral assessment of Pavlovian fear conditioning in mice. Learn Mem 7: 58-72.
27. Wolfer DP, Stagljar-Bozicevic M, Errington ML, Lipp HP (1998) Spatial Memory and Learning in Transgenic Mice: Fact or Artifact? News Physiol Sci 13: 118-123.
28. Logigian EL, Blood CL, Dilek N, Martens WB, Moxley RTt, et al. (2005) Quantitative analysis of the "warm-up" phenomenon in myotonic dystrophy type 1. Muscle Nerve 32: 35-42.
29. Colombo G, Perini GI, Miotti MV, Armani M, Angelini C (1992) Cognitive and psychiatric evaluation of 40 patients with myotonic dystrophy. Ital J Neurol Sci 13: 53-58.
30. Lueck JD, Mankodi A, Swanson MS, Thornton CA, Dirksen RT (2007) Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J Gen Physiol 129: 79-94.
31. Matynia A, Anagnostaras SG, Wiltgen BJ, Lacuesta M, Fanselow MS, et al. (2008) A high through-put reverse genetic screen identifies two genes involved in remote memory in mice. PLoS ONE 3: e2121.
32. Frankland PW, O'Brien C, Ohno M, Kirkwood A, Silva AJ (2001) alpha-CaMKII-dependent plasticity in the cortex is required for permanent memory. Nature (London) 411: 309-313.
33. Hao M, Akrami K, Wei K, De Diego C, Che N, et al. (2008) Muscleblind-like 2 (Mbnl2)-deficient mice as a model for myotonic dystrophy. Dev Dyn 237: 403-410.
34. Costa RM, Yang T, Huynh DP, Pulst SM, Viskochil DH, et al. (2001) Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nature Genetics 27: 399-405.