RNA Splicing Is Responsive to MBNL1 Dose

PLoS ONE

Volumn 7, Issue 11, 2012, Pages

  Jog, Sonali P ^a   Paul, Sharan ^a,b   Dansithong, Warunee ^a,b   Tring, Stephanie ^a   Comai, Lucio ^a   Reddy, Sita ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MUSCLEBLIND LIKE 1 PROTEIN; RNA 18S; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; CELL EXPANSION; CONTROLLED STUDY; DISEASE SEVERITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MOUSE; MYOBLAST; MYOTONIC DYSTROPHY; NONHUMAN; PHENOTYPE; PROTEIN BINDING; PROTEIN DEPLETION; PROTEIN SECONDARY STRUCTURE; RNA SPLICING;

BLOTTING, WESTERN; HALF-LIFE; HUMANS; MUSCLE, SKELETAL; MYOTONIC DYSTROPHY; PHENOTYPE; RNA SPLICING; RNA, SMALL INTERFERING; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84869235053     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0048825     Document Type: Article

References (23)

1. Harper PS, editor (2001) Myotonic Dystrophy. 3rd ed. Philadelphia: Saunders WB.
2. 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 3′ end of a transcript encoding a protein kinase family member. Cell 68: 799-808.
3. Harley HG, Rundle SA, Reardon W, Myring J, Crow S, et al. (1992) Unstable DNA sequence in myotonic dystrophy. Lancet 339: 1125-1128.
4. Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, et al. (1993) Size of the unstable CTG repeat sequence in realtion to phenotype and parental transmission in myotonic dystrophy. Am. J. Hum. Genet. 52: 1164-1174.
5. Napierala M, Krzyzosiak WJ, (1997) CUG repeats present in myotonic kinase RNA form metastable slippery hairpins. J Biol Chem 272: 31079-31085.
6. 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.
7. Yuan Y, Compton SA, Sobczak K, Stenberg MG, Thornton CA, et al. (2007) Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. Nucleic Acids Res 35: 5474-5486.
8. 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.
9. Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, et al. (2006) Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 15: 2087-2097.
10. Ranum LP, Cooper TA, (2006) RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29: 259-277.
11. Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, et al. (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.
12. Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA, (2007) Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 117: 3952-3957.
13. Savkur RS, Philips AV, Cooper TA, (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 29: 40-47.
14. Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, et al. (2003) A muscleblind knockout model for myotonic dystrophy. Science 302: 1978-1980.
15. Du H, Cline MS, Osborne RJ, Tuttle DL, Clark TA, et al. (2010) Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Nat Struct Mol Biol 17: 187-193.
16. Yan Y, Dalmasso G, Nguyen HTT, Obertone TS, Charrier-Hisamuddin L, et al. (2008) Nuclear Factor- κB is a critical mediator of Ste20-like proline-/alanine-rich kinase regulation in intestinal inflammation. Am J Pathol 173(4): 1013-1028.
17. Tennyson CN, Shi Q, Worton R, (1996) Stability of the human dystrophin transcript in muscle. Nucleic Acids Res 24(15): 3059-3064.
18. Balabanian K, Levoye A, Klemm L, Lagane B, Hermine O, et al. (2008) Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling. J Clin Invest 118: 1074-1084.
19. Garcia-Lopez A, Monferrer L, Garcia-Alcover I, Vicente-Crespo M, Alvarez-Abril MC, et al. (2008) Genetic and chemical modifiers of a CUG toxicity model in Drosophila. PLoS One. 3(2): e1595.
20. Laurent F-X, Sureau A, Klein AF, Trouslard F, Gasnier E, et al. (2011) New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats. Nucleic Acids Res 40(7): 3159-71.
21. 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.
22. 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.
23. Holt I, Mittal S, Furling D, Butler-Browne GS, Brook JD, et al. (2007) Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles. Genes Cells 12: 1035-1048.