Gene Symbol: muscleblind
Description: muscleblind
Alias: BG01127, CG10941, CG14477, CG33197, Dmel\CG33197, Mbl, chaste, chst, cht, l(2)01038, l(2)k01212, l(2)k05507, mb1, mbn, n(2)k07110, muscleblind, BG01127, CG33197-PA, CG33197-PB, CG33197-PD, CG33197-PH, CG33197-PJ, CG33197-PK, CG33197-PM, CG33197-PN, CG33197-PO, CG33197-PP, CG33197-PR, CG33197-PS, CG33197-PT, MUSCLEBLIND, chaste, mbl-PA, mbl-PB, mbl-PD, mbl-PH, mbl-PJ, mbl-PK, mbl-PM, mbl-PN, mbl-PO, mbl-PP, mbl-PR, mbl-PS, mbl-PT, mindmelt
Species: fruit fly

Top Publications

  1. Robin C, Daborn P, Hoffmann A. Fighting fly genes. Trends Genet. 2007;23:51-4 pubmed
    ..Here, we describe the study of aggressive behaviour in flies and explore the possibility that cytochrome P450 is involved in aggression. ..
  2. Spletter M, Schnorrer F. Transcriptional regulation and alternative splicing cooperate in muscle fiber-type specification in flies and mammals. Exp Cell Res. 2014;321:90-8 pubmed publisher
    ..Thus, research in Drosophila can provide important mechanistic insight into muscle fiber specification, which is relevant to homologous processes in mammals and to the pathology of muscle diseases. ..
  3. Pascual M, Monferrer L, Fernandez Costa J, Bargiela A, Artero R, Llamusi B. A GFP-tagged muscleblind C protein isoform reporter construct. Fly (Austin). 2010;4:333-7 pubmed publisher
    Drosophila muscleblind (mbl), the ortholog of human Muscleblind-like 1 (MBNL1) gene involved in Myotonic Dystrophy (DM), gives raise to protein isoforms MblA to G...
  4. Houseley J, Wang Z, Brock G, Soloway J, Artero R, Perez Alonso M, et al. Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila. Hum Mol Genet. 2005;14:873-83 pubmed
    ..these expanded CUG repeat-containing transcripts are sequestered into ribonuclear foci that also contain the muscleblind-like proteins...
  5. Monferrer L, Artero R. An interspecific functional complementation test in Drosophila for introductory genetics laboratory courses. J Hered. 2006;97:67-73 pubmed
    ..describe a genetics laboratory class that demonstrates functional conservation between the Drosophila protein Muscleblind (Mbl) and its human ortholog MBNL1...
  6. de Haro M, Al Ramahi I, de Gouyon B, Ukani L, Rosa A, Faustino N, et al. MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. Hum Mol Genet. 2006;15:2138-45 pubmed
    ..Perhaps more importantly, they also provide proof of the principle that CUG-induced muscle toxicity can be suppressed. ..
  7. van Eyk C, O Keefe L, Lawlor K, Samaraweera S, McLeod C, Price G, et al. Perturbation of the Akt/Gsk3-? signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs. Hum Mol Genet. 2011;20:2783-94 pubmed publisher
  8. Juni N, Yamamoto D. Genetic analysis of chaste, a new mutation of Drosophila melanogaster characterized by extremely low female sexual receptivity. J Neurogenet. 2009;23:329-40 pubmed publisher
    ..The chst mutation is mapped to the muscleblind (mbl) locus at 54B on the right arm of chromosome 2...
  9. García Casado M, Artero R, Paricio N, Terol J, Perez Alonso M. Generation of GAL4-responsive muscleblind constructs. Genesis. 2002;34:111-4 pubmed

More Information


  1. Vicente Crespo M, Pascual M, Fernandez Costa J, Garcia Lopez A, Monferrer L, Miranda M, et al. Drosophila muscleblind is involved in troponin T alternative splicing and apoptosis. PLoS ONE. 2008;3:e1613 pubmed publisher
    b>Muscleblind-like proteins (MBNL) have been involved in a developmental switch in the use of defined cassette exons...
  2. Vicente M, Monferrer L, Poulos M, Houseley J, Monckton D, O Dell K, et al. Muscleblind isoforms are functionally distinct and regulate alpha-actinin splicing. Differentiation. 2007;75:427-40 pubmed
    Drosophila Muscleblind (Mbl) proteins control terminal muscle and neural differentiation, but their molecular function has not been experimentally addressed...
  3. Begemann G, Paricio N, Artero R, Kiss I, Perez Alonso M, Mlodzik M. muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His-type zinc-finger-containing proteins. Development. 1997;124:4321-31 pubmed
    We have isolated the embryonic lethal gene muscleblind (mbl) as a suppressor of the sev-svp2 eye phenotype. Analysis of clones mutant for mbl during eye development shows that it is autonomously required for photoreceptor differentiation...
  4. Wang E, Cody N, Jog S, Biancolella M, Wang T, Treacy D, et al. Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins. Cell. 2012;150:710-24 pubmed publisher
    The muscleblind-like (Mbnl) family of RNA-binding proteins plays important roles in muscle and eye development and in myotonic dystrophy (DM), in which expanded CUG or CCUG repeats functionally deplete Mbnl proteins...
  5. Goers E, Voelker R, Gates D, Berglund J. RNA binding specificity of Drosophila muscleblind. Biochemistry. 2008;47:7284-94 pubmed publisher
    Members of the muscleblind family of RNA binding proteins found in Drosophila and mammals are key players in both the human disease myotonic dystrophy and the regulation of alternative splicing...
  6. Machuca Tzili L, Thorpe H, Robinson T, Sewry C, Brook J. Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts. Hum Genet. 2006;120:487-99 pubmed
    ..and DM2 cells respectively, where they exert a toxic effect, sequestering specific RNA binding proteins such as Muscleblind, which leads to splicing defects and the disruption of normal cellular functions...
  7. Artero R, Prokop A, Paricio N, Begemann G, Pueyo I, Mlodzik M, et al. The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2. Dev Biol. 1998;195:131-43 pubmed
    We report the embryonic phenotype of muscleblind (mbl), a recently described Drosophila gene involved in terminal differentiation of adult ommatidia...
  8. Burnette J, Miyamoto Sato E, Schaub M, Conklin J, Lopez A. Subdivision of large introns in Drosophila by recursive splicing at nonexonic elements. Genetics. 2005;170:661-74 pubmed
    ..We discuss currently known and potential roles for recursive splicing. ..
  9. Houseley J, Garcia Casado Z, Pascual M, Paricio N, O Dell K, Monckton D, et al. Noncanonical RNAs from transcripts of the Drosophila muscleblind gene. J Hered. 2006;97:253-60 pubmed
    ..Here we describe new cDNAs from the Drosophila melanogaster muscleblind (mbl) locus that identify two such atypical RNA molecules: RNAs containing an incomplete exon 2 tandem ..
  10. Pascual M, Vicente M, Monferrer L, Artero R. The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing. Differentiation. 2006;74:65-80 pubmed
    ..In this review, we focus on the Muscleblind family of tissue-specific alternative splicing regulators...
  11. Li L, Yu Z, Teng X, Bonini N. RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature. 2008;453:1107-11 pubmed publisher
    ..induced by the spinocerebellar ataxia type 3 (SCA3) protein ataxin-3, we isolated an upregulation allele of muscleblind (mbl), a gene implicated in the RNA toxicity of CUG expansion diseases...
  12. Bargiela A, Llamusi B, Cerro Herreros E, Artero R. Two enhancers control transcription of Drosophila muscleblind in the embryonic somatic musculature and in the central nervous system. PLoS ONE. 2014;9:e93125 pubmed publisher
    The phylogenetically conserved family of Muscleblind proteins are RNA-binding factors involved in a variety of gene expression processes including alternative splicing regulation, RNA stability and subcellular localization, and miRNA ..
  13. Fernandez Costa J, Artero R. A conserved motif controls nuclear localization of Drosophila Muscleblind. Mol Cells. 2010;30:65-70 pubmed publisher
    Human Muscleblind-like proteins are alternative splicing regulators that are functionally altered in the RNA-mediated disease myotonic dystrophy...
  14. Kucherenko M, Marrone A, Rishko V, Magliarelli H, Shcherbata H. Stress and muscular dystrophy: a genetic screen for dystroglycan and dystrophin interactors in Drosophila identifies cellular stress response components. Dev Biol. 2011;352:228-42 pubmed publisher
  15. Picchio L, Plantie E, Renaud Y, Poovthumkadavil P, Jagla K. Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression. Hum Mol Genet. 2013;22:2795-810 pubmed publisher
    ..DM1 patients, the mutant DMPK transcripts containing expanded CUG repeats form nuclear foci and sequester the Muscleblind-like 1 splicing factor, resulting in mis-splicing of its targets...
  16. Fernandez Costa J, Garcia Lopez A, Zuñiga S, Fernández Pedrosa V, Felipo Benavent A, Mata M, et al. Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients. Hum Mol Genet. 2013;22:704-16 pubmed publisher
    ..Additionally, a regulatory role for Muscleblind (Mbl) was also suggested for miR-1 and miR-7, as these miRNAs were down-regulated in flies where Mbl had been ..
  17. Irion U. Drosophila muscleblind codes for proteins with one and two tandem zinc finger motifs. PLoS ONE. 2012;7:e34248 pubmed publisher
    b>Muscleblind-like proteins, Muscleblind (Mbl) in Drosophila and MBNL1-3 in vertebrates, are regulators of alternative splicing...
  18. Garcia Lopez A, Llamusi B, Orzáez M, Perez Paya E, Artero R. In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models. Proc Natl Acad Sci U S A. 2011;108:11866-71 pubmed publisher
    ..Mutant transcripts form CUG hairpins that sequester RNA-binding factors into nuclear foci, including Muscleblind-like-1 protein (MBNL1), which regulate alternative splicing and gene expression...
  19. Garcia Lopez A, Monferrer L, Garcia Alcover I, Vicente Crespo M, Alvarez Abril M, Artero R. Genetic and chemical modifiers of a CUG toxicity model in Drosophila. PLoS ONE. 2008;3:e1595 pubmed publisher
    Non-coding CUG repeat expansions interfere with the activity of human Muscleblind-like (MBNL) proteins contributing to myotonic dystrophy 1 (DM1)...
  20. Yu Z, Goodman L, Shieh S, Min M, Teng X, Zhu Y, et al. A fly model for the CCUG-repeat expansion of myotonic dystrophy type 2 reveals a novel interaction with MBNL1. Hum Mol Genet. 2015;24:954-62 pubmed publisher
    ..This property is shared with a fly CUG-repeat expansion model. Our results suggest a novel mechanism for interaction between the pathogenic RNA repeat expansions of myotonic dystrophy and MBNL1. ..
  21. Oas S, Bryantsev A, Cripps R. Arrest is a regulator of fiber-specific alternative splicing in the indirect flight muscles of Drosophila. J Cell Biol. 2014;206:895-908 pubmed publisher
    ..Our observations provide insight into a transcriptional and splicing regulatory network for muscle fiber specification. ..
  22. Plantie E, Migocka Patrzałek M, Daczewska M, Jagla K. Model organisms in the fight against muscular dystrophy: lessons from drosophila and Zebrafish. Molecules. 2015;20:6237-53 pubmed publisher
    ..This review discusses how zebrafish and Drosophila MD have helped to identify genetic determinants of MDs and design innovative therapeutic strategies with a special focus on DMD, DM1 and congenital MDs. ..
  23. Salzman J, Chen R, Olsen M, Wang P, Brown P. Cell-type specific features of circular RNA expression. PLoS Genet. 2013;9:e1003777 pubmed publisher
    ..These results suggest that biogenesis of circular RNA is an integral, conserved, and regulated feature of the gene expression program. ..
  24. Yamamoto D, Nakano Y. Genes for sexual behavior. Biochem Biophys Res Commun. 1998;246:1-6 pubmed
    ..This strategy of artificial control of fly behavior opens up an avenue for studies to identify the neural center for individual behavioral actions. ..
  25. Yamamoto D, Fujitani K, Usui K, Ito H, Nakano Y. From behavior to development: genes for sexual behavior define the neuronal sexual switch in Drosophila. Mech Dev. 1998;73:135-46 pubmed
  26. Llamusi B, Bargiela A, Fernandez Costa J, Garcia Lopez A, Klima R, Feiguin F, et al. Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model. Dis Model Mech. 2013;6:184-96 pubmed publisher
    ..In Drosophila flight muscle, TBPH, BSF and the fly ortholog of MBNL1, Muscleblind (Mbl), were detected in sarcomeric bands...
  27. Bargiela A, Cerro Herreros E, Fernandez Costa J, Vilchez J, Llamusi B, Artero R. Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model. Dis Model Mech. 2015;8:679-90 pubmed publisher
    ..Inhibition of apoptosis or autophagy mediated by the overexpression of DIAP1, mTOR (also known as Tor) or muscleblind, or by RNA interference (RNAi)-mediated silencing of autophagy regulatory genes, achieved a rescue of the ..
  28. Chakraborty M, Selma Soriano E, Magny E, Couso J, Pérez Alonso M, Charlet Berguerand N, et al. Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction. Dis Model Mech. 2015;8:1569-78 pubmed publisher
    ..Moreover, combined immunofluorescence and in situ hybridization of Muscleblind and CUG repeats, respectively, confirmed detectable ribonuclear foci and Muscleblind sequestration, ..
  29. Wang Y, Cruz T, Irion U, Moussian B. Differentiated muscles are mandatory for gas-filling of the Drosophila airway system. Biol Open. 2015;4:1753-61 pubmed publisher
    ..We think that in analogy to the function of smooth muscles in vertebrate lungs, a balance of physical forces between muscles and the elasticity of tracheal walls may be decisive for tracheal terminal differentiation in Drosophila. ..
  30. Kohwi M, Lupton J, Lai S, Miller M, Doe C. Developmentally regulated subnuclear genome reorganization restricts neural progenitor competence in Drosophila. Cell. 2013;152:97-108 pubmed publisher
    ..We propose that neuroblasts undergo a developmentally regulated subnuclear genome reorganization to permanently silence Hunchback target genes that results in loss of progenitor competence. ..
  31. Lawlor K, O Keefe L, Samaraweera S, van Eyk C, Richards R. Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathology. PLoS ONE. 2012;7:e38516 pubmed publisher
    ..Further experiments use this system to examine whether pathways involving Muscleblind sequestration or Dicer processing, which have been shown to mediate repeat RNA-mediated pathology in other ..
  32. Zwarts L, Magwire M, Carbone M, Versteven M, Herteleer L, Anholt R, et al. Complex genetic architecture of Drosophila aggressive behavior. Proc Natl Acad Sci U S A. 2011;108:17070-5 pubmed publisher
  33. Marrone A, Kucherenko M, Rishko V, Shcherbata H. New dystrophin/dystroglycan interactors control neuron behavior in Drosophila eye. BMC Neurosci. 2011;12:93 pubmed publisher
    ..Since the function of the DGC in the brain and nervous system has not been fully defined, we have here continued to analyze the DGC modifiers' function in the developing Drosophila brain and eye...
  34. Moses A, Pollard D, Nix D, Iyer V, Li X, Biggin M, et al. Large-scale turnover of functional transcription factor binding sites in Drosophila. PLoS Comput Biol. 2006;2:e130 pubmed
    ..Finally, we show that binding-site gains and losses are asymmetrically distributed with respect to D. melanogaster, consistent with lineage-specific acquisition and loss of Zeste-responsive regulatory elements. ..
  35. Waldholm J, Wang Z, Brodin D, Tyagi A, Yu S, Theopold U, et al. SWI/SNF regulates the alternative processing of a specific subset of pre-mRNAs in Drosophila melanogaster. BMC Mol Biol. 2011;12:46 pubmed publisher
    ..The effect is restricted to and specific for a subset of transcripts. Our results provide novel insights into the mechanisms by which SWI/SNF regulates transcript diversity and proteomic diversity in higher eukaryotes. ..
  36. Semeshin V, Artero R, Perez Alonso M, Shloma V. Electron microscopic in situ hybridization of digoxigenin-dUTP-labelled DNA probes with Drosophila melanogaster polytene chromosomes. Chromosome Res. 1998;6:405-10 pubmed
    ..In addition, the method was applied to the fine mapping of the developmentally regulated gene muscle-blind (mbl)...
  37. Zaiss D, Belote J. Molecular cloning of the Drosophila melanogaster gene alpha5_dm encoding a 20S proteasome alpha-type subunit. Gene. 1997;201:99-105 pubmed
    ..A search for other D. melanogaster alpha5_dm-like genes encoding potential isoforms of this subunit failed to identify any closely related genes. ..
  38. Jordan K, Carbone M, Yamamoto A, Morgan T, Mackay T. Quantitative genomics of locomotor behavior in Drosophila melanogaster. Genome Biol. 2007;8:R172 pubmed