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Gene Review

MBNL1  -  muscleblind-like splicing regulator 1

Homo sapiens

Synonyms: EXP, EXP35, EXP40, EXP42, KIAA0428, ...
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Disease relevance of MBNL1

  • Expanded CUG-induced toxicity in Drosophila is suppressed when MBNL1 expression levels are increased, and enhanced when MBNL1 levels are reduced [1].
  • Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy [2].
  • A control group (CON; N = 12) of kidney specimens was obtained from patients who had proteinuria greater than 2.5 g/24 hr and mean age (49 +/- 4 vs. 59 +/- 3 years; P = NS), serum creatinine concentration (2.4 +/- 0.5 vs. 3.2 +/- 1.5 mg/dl; P = NS) and creatinine clearance (65 +/- 13 vs. 63 +/- 12 ml/min; P = NS) similar to the EXP group [3].
  • The rate of decline of CA 125 in effectively treated epithelial ovarian cancer is described by the exponential regression curve CA 125 = EXP [i - s (days after surgery)] [4].
  • In order to evaluate the potential use of external cardiac pacing (EXP) in the clinical termination of sustained ventricular tachycardia (VT), we attempted VT terminations in seven patients [5].

Psychiatry related information on MBNL1


High impact information on MBNL1

  • RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1 [8].
  • The results are consistent with a mechanism for DM pathogenesis in which expanded repeats cause a loss of MBNL and/or gain of CELF activities, leading to misregulation of alternative splicing of specific pre-mRNA targets [9].
  • Although the muscleblind (MBNL) protein family has been implicated in myotonic dystrophy (DM), a specific function for these proteins has not been reported [9].
  • Here, we identify the triplet repeat expansion (EXP) RNA-binding proteins as candidate sequestered factors [10].
  • EXP expression is also activated during mammalian myoblast differentiation, but the EXP proteins accumulate in nuclear foci in DM1 cells [10].

Chemical compound and disease context of MBNL1

  • We performed bronchoalveolar lavage (BAL) and gallium-67 (67Ga) lung scans and measured serum and BAL soluble interleukin-2 receptor (IL-2R) and angiotensin-converting enzyme (SACE) levels in 32 subjects with a history of significant asbestos exposure, 14 without (EXP) and 18 with (ASB) radiographic evidence of asbestosis [11].

Biological context of MBNL1

  • We also report that altering the levels of two RNA-BP known to be involved in DM1 pathogenesis, MBNL1 and CUGBP1, modify the (iCUG)480 degenerative phenotypes [1].
  • By using various synthetic RNAs, it was found that MBNL1 specifically interacts with repetitive sequences summarized as CHHG and CHG repeats, where H is A, U or C [12].
  • In this study we describe a genetics laboratory class that demonstrates functional conservation between the Drosophila protein Muscleblind (Mbl) and its human ortholog MBNL1 [13].
  • Misregulation of MBNL activity can lead to human pathologies [14].
  • They belong to the AT1 subtype because (125I)AII is displaced from its binding sites preferentially by AT1 antagonists such as DUP 753 and EXP 3,174, whereas AT2 antagonists are much less potent [15].

Anatomical context of MBNL1

  • We also find an immobile fraction of GFP-MBNL1 in DM1 fibroblasts and a similar rapid exchange in endogenous CUG RNA foci [16].
  • The splicing defect induced by expanded CUG repeats in mature muscle fibers is closely reproduced by deficiency of MBNL1 but not by deficiency of MBNL2 [2].
  • These results indicate that MBNL1 participates in the post-natal remodeling of skeletal muscle by controlling a key set of developmentally regulated splicing switches [2].
  • GFP-tagged MBNL does not appear as foci in non-DM1 cell lines [17].
  • In the experimental (EXP; n = 7) and control (CON; n = 6) groups, femoral arteriovenous blood samples and vastus lateralis biopsy samples were obtained during a primed constant infusion of l-[ring-(2)H(5)]phenylalanine and a 14-h infusion of hydrocortisone sodium succinate (60 before (pre-BR) and after (post-BR) 28 d of BR [18].

Associations of MBNL1 with chemical compounds

  • The effect of losartan, irbesartan, and EXP had a faster onset, and most of the inhibitory effect disappeared after washing [19].
  • Postabsorptive net phenylalanine balance values were as follows: EXP, -35.14 +/- 2.93, and CON, -32.60 +/- 6.65 (pre-BR); and EXP, -32.91 +/- 5.67, and CON, -30.43 +/- 6.28 nmol ml leg volume(-1) (post-BR) [18].
  • All of the EXP specimens demonstrated varying degrees of proximal tubule damage, manifested by cell vacuolation, desquamation, loss of the luminal brush border, and, often, coagulation necrosis.(ABSTRACT TRUNCATED AT 250 WORDS)[3]
  • 1. We studied the functional interaction between transport and metabolism by comparing the transport of losartan and its active metabolite EXP 3174 (EXP) across cell monolayers [20].
  • The B/A flux of EXP was significantly inhibited by cyclosporine and vinblastine [20].

Physical interactions of MBNL1

  • It was also found that MBNL1 can bind to repetitive motifs in ZNF9, which contain a minimal length of CCUG repeats with non-CCUG insertions [12].

Other interactions of MBNL1

  • MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1 [1].
  • While MBNL1 seems to promote muscle differentiation, MBNL3 appears to function in an opposing manner inhibiting expression of muscle differentiation markers [14].
  • The results of our immunofluorescence study indicate that, among patients examined, MBNL1 nuclear sequestration in protein foci is a molecular pathology marker of DM1 and DM2 patients where ribonuclear inclusions of transcripts with expanded CUG/CCUG repeats are also present [21].

Analytical, diagnostic and therapeutic context of MBNL1

  • Here we report a decreased expression of CELF family member and MBNL transcripts in DM1 brains as assessed by RT-PCR [22].
  • To examine the toxicity of monoclonal LC's in man, 11 kidney specimens (EXP group) obtained from patients with monotypical LC-related renal disease (7 lambda, 4 kappa), documented by the presence of monoclonal LC's in the serum or urine and in the tissue, were examined by light, immunofluorescence, electron, and immunoelectron microscopy [3].
  • Thirty experienced (EXP: 16 male and 14 female) and 28 nonexperienced (NEXP: 15 male and 13 female) subjects between the ages of 18-40 yr completed two incremental exercise tests on a cycle ergometer, one at 50 rpm and one at 80 rpm. in random order [23].
  • However, peak values of VO2 significantly increased in EXP (p < 0.05) after the period of electrical stimulation (POST peak VO2: 18.7+/-2.0ml x kg(-1)), whereas no change was observed in CONT (POST peak VO2: 16.2+/-3.2 ml x kg(-1) x min(-1)) [24].
  • Scanning electron microscopy revealed apparent fusion of human placental arteries and human adult arteries to expanded polytetrafluoroethylene microconduits at settings of P = 130 mW, SS = 300 microns, and EXP = 1.0 second, though bursting pressure at all settings was less than 10 mmHg [25].


  1. MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. de Haro, M., Al-Ramahi, I., De Gouyon, B., Ukani, L., Rosa, A., Faustino, N.A., Ashizawa, T., Cooper, T.A., Botas, J. Hum. Mol. Genet. (2006) [Pubmed]
  2. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Lin, X., Miller, J.W., Mankodi, A., Kanadia, R.N., Yuan, Y., Moxley, R.T., Swanson, M.S., Thornton, C.A. Hum. Mol. Genet. (2006) [Pubmed]
  3. Morphologic alterations of the proximal tubules in light chain-related renal disease. Sanders, P.W., Herrera, G.A., Lott, R.L., Galla, J.H. Kidney Int. (1988) [Pubmed]
  4. CA 125 regression: a model for epithelial ovarian cancer response. Buller, R.E., Berman, M.L., Bloss, J.D., Manetta, A., DiSaia, P.J. Am. J. Obstet. Gynecol. (1991) [Pubmed]
  5. The clinical use of external noninvasive pacing in the termination of sustained ventricular tachycardia. Grubb, B.P., Temesy-Armos, P., Hahn, H., Elliott, L. Pacing and clinical electrophysiology : PACE. (1990) [Pubmed]
  6. Cognitive therapy versus exposure and applied relaxation in social phobia: A randomized controlled trial. Clark, D.M., Ehlers, A., Hackmann, A., McManus, F., Fennell, M., Grey, N., Waddington, L., Wild, J. Journal of consulting and clinical psychology. (2006) [Pubmed]
  7. Safety and efficacy evaluation of a fitness club weight-loss program. Kaats, G.R., Keith, S.C., Pullin, D., Squires, W.G., Wise, J.A., Hesslink, R., Morin, R.J. Advances in therapy. (1998) [Pubmed]
  8. RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1. Adereth, Y., Dammai, V., Kose, N., Li, R., Hsu, T. Nat. Cell Biol. (2005) [Pubmed]
  9. Muscleblind proteins regulate alternative splicing. Ho, T.H., Charlet-B, N., Poulos, M.G., Singh, G., Swanson, M.S., Cooper, T.A. EMBO J. (2004) [Pubmed]
  10. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. Miller, J.W., Urbinati, C.R., Teng-Umnuay, P., Stenberg, M.G., Byrne, B.J., Thornton, C.A., Swanson, M.S. EMBO J. (2000) [Pubmed]
  11. Bronchoalveolar lavage analysis, gallium-67 lung scanning and soluble interleukin-2 receptor levels in asbestos exposure. Delclos, G.L., Flitcraft, D.G., Brousseau, K.P., Windsor, N.T., Nelson, D.L., Wilson, R.K., Lawrence, E.C. Environmental research. (1989) [Pubmed]
  12. Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Kino, Y., Mori, D., Oma, Y., Takeshita, Y., Sasagawa, N., Ishiura, S. Hum. Mol. Genet. (2004) [Pubmed]
  13. An interspecific functional complementation test in Drosophila for introductory genetics laboratory courses. Monferrer, L., Artero, R. J. Hered. (2006) [Pubmed]
  14. The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing. Pascual, M., Vicente, M., Monferrer, L., Artero, R. Differentiation (2006) [Pubmed]
  15. Cell surface receptors and ectoenzymes in mesangial cells. Ardaillou, R., Chansel, D., Stefanovic, V., Ardaillou, N. J. Am. Soc. Nephrol. (1992) [Pubmed]
  16. Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. Ho, T.H., Savkur, R.S., Poulos, M.G., Mancini, M.A., Swanson, M.S., Cooper, T.A. J. Cell. Sci. (2005) [Pubmed]
  17. In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Fardaei, M., Larkin, K., Brook, J.D., Hamshere, M.G. Nucleic Acids Res. (2001) [Pubmed]
  18. The catabolic effects of prolonged inactivity and acute hypercortisolemia are offset by dietary supplementation. Paddon-Jones, D., Sheffield-Moore, M., Urban, R.J., Aarsland, A., Wolfe, R.R., Ferrando, A.A. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  19. Mechanistic differences of various AT1-receptor blockers in isolated vessels of different origin. Morsing, P., Adler, G., Brandt-Eliasson, U., Karp, L., Ohlson, K., Renberg, L., Sjöquist, P.O., Abrahamsson, T. Hypertension (1999) [Pubmed]
  20. Active transport of the angiotensin-II antagonist losartan and its main metabolite EXP 3174 across MDCK-MDR1 and caco-2 cell monolayers. Soldner, A., Benet, L.Z., Mutschler, E., Christians, U. Br. J. Pharmacol. (2000) [Pubmed]
  21. Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. Cardani, R., Mancinelli, E., Rotondo, G., Sansone, V., Meola, G. European journal of histochemistry : EJH. (2006) [Pubmed]
  22. ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I. Leroy, O., Dhaenens, C.M., Schraen-Maschke, S., Belarbi, K., Delacourte, A., Andreadis, A., Sablonnière, B., Buée, L., Sergeant, N., Caillet-Boudin, M.L. J. Neurosci. Res. (2006) [Pubmed]
  23. Prediction of VO2peak from submaximal cycle ergometry using 50 versus 80 rpm. Swain, D.P., Wright, R.L. Medicine and science in sports and exercise. (1997) [Pubmed]
  24. Effects of muscle electrical stimulation on peak VO2 in cardiac transplant patients. Vaquero, A.F., Chicharro, J.L., Gil, L., Ruiz, M.P., Sánchez, V., Lucía, A., Urrea, S., Gómez, M.A. International journal of sports medicine. (1998) [Pubmed]
  25. Laser-assisted microvascular anastomosis of human adult and placental arteries with expanded polytetrafluoroethylene microconduit. Bentz, M.L., Parva, B., Dickson, C.S., Futrell, J.W., Johnson, P.C. Plast. Reconstr. Surg. (1993) [Pubmed]
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