E-box mutations in the RAPSN promoter regions in eight cases with congenital myasthenic syndrome

Human Molecular Genetics

Volumn 12, Issue 7, 2003, Pages 739-748

  Ohno, Kinji ^a   Sadeh, Menachem ^b   Blatt, Ilan ^b   Brengman, Joan M ^a   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

^b WOLFSON MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CHOLINERGIC RECEPTOR; CYTOSINE; GUANINE; LUCIFERASE; MYOD PROTEIN; MYOGENIN; NUCLEAR PROTEIN; RAPSYN; THYMINE;

ADULT; BINDING AFFINITY; CLINICAL ARTICLE; CONTROLLED STUDY; E BOX ELEMENT; EATON LAMBERT SYNDROME; ENHANCER REGION; FACE MALFORMATION; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; MYOTUBE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEFICIENCY; REPORTER GENE; REVIEW; TRANSCRIPTION INITIATION; TRANSLATION INITIATION;

ADOLESCENT; ADULT; ALLELES; BASE SEQUENCE; CELL LINE; CELL MEMBRANE; CELL NUCLEUS; CHILD; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ENHANCER ELEMENTS (GENETICS); FACIES; FEMALE; GENES, REPORTER; GENETIC VECTORS; HAPLOTYPES; HUMANS; LUCIFERASES; MALE; MICROSCOPY, FLUORESCENCE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCLES; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; PHENOTYPE; PROMOTER REGIONS (GENETICS); PROTEIN STRUCTURE, TERTIARY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSCRIPTION, GENETIC; TRANSFECTION;

IRANIA;

EID: 0037390271     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg089     Document Type: Review

References (60)

1. Wei, Q. and Paterson, B.M. (2001) Regulation of MyoD function in the dividing myoblast. FEBS Lett., 490, 171-178.
2. Yun, K. and Wold, B. (1996) Skeletal muscle determination and differentiation: story of a core regulatory network and its context. Curr. Opin. Cell Biol., 8, 877-889.
3. Froehner, S.C., Luetje, C.W., Scotland, P.B. and Patrick, J. (1990) The postsynaptic 43K protein clusters muscle nicotinic acetylcholine receptors in Xenopus oocytes. Neuron, 5, 403-410.
4. Ferns, M. and Carbonetto, S. (2001) Challenging the neurocentric view of neuromuscular synapse formation. Neuron, 30, 311-314.
5. Gautam, M., Noakes, P.G., Mudd. J., Nichol, M., Chu, G.C., Sanes, J.R. and Merlie, J.P. (1995) Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice. Nature, 377, 232-236.
6. Ramarao, N.K. and Cohen, J.B. (1998) Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn. Proc. Natl Acad. Sci. USA, 95, 4007-4012.
7. Ramarao, M.K., Bianchetta, M.J., Lanken, J. and Cohen, J.B. (2001) Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering. J. Biol. Chem., 276, 7475-7483.
8. Cartaud, A., Coutant, S., Petrucci, T.C. and Cartaud, J. (1998) Evidence for in situ and in vitro association between beta-dystroglycan and the subsynaptic 43k rapsyn protein - consequence for acetylcholine receptor clustering at the synapse. J. Biol. Chem., 273, 11321-11326.
9. Bartoli, M., Ramarao, M.K. and Cohen, J.B. (2001) Interactions of the rapsyn RING-H2 domain with dystroglycan. J. Biol. Chem., 276, 24911-24917.
10. Ohno, K., Tsujino, A., Shen, X.-M., Brengman, J.M., Harper, C.M., Bajzer, Z., Udd, B., Beyring, R., Robb, S., Kirkham, F.J. et al. (2001) Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc. Natl Acad. Sci. USA, 98, 2017-2022.
11. Ohno, K., Brengman, J.M., Tsujino, A. and Engel, A.G. (1998) Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc. Natl Acad. Sci. USA, 95, 9654-9659.
12. Donger, C., Krejci, E., Pou Serradell, A., Eymard, B., Bon, S., Nicole, S., Chateau, D., Gary, F., Fardeau, M., Massoulié, J. et al. (1998) Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). Am. J. Hum. Genet., 63, 967-975.
13. Beeson, D. and Newsom-Davis, J. (2000) Mutations affecting muscle nicotinic acetylcholine receptors and their role in congenital myasthenic syndromes. In LehmannHorn, F. and JurkatRott, K. (eds), Channelopathies. Elsevier Science, New York, pp. 85-114.
14. Engel, A.G., Ohno, K. and Sine, S.M. (2003) Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve, 27, 4-25.
15. Ohno, K. and Engel, A.G. (2002) Congenital myasthenic syndromes: gene mutations. Neuromusc. Disord., 12, 807-811.
16. Ohno, K., Engel, A.G., Shen, X.-M., Selcen, D., Brengman, J.M., Harper, C.M., Tsujino, A. and Milone, M. (2002) Rapsyn mutations in humans cause endplate acetylcholine receptor deficiency and myasthenic syndrome. Am. J. Hum. Genet., 70, 875-885.
17. Goldhammer, Y., Blatt, I., Sadeh, M. and Goodman, R.M. (1990) Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome. Brain, 113, 1291-1306.
18. Kong, A., Gudbjartsson, D.F., Sainz, J., Jonsdottir, G.M., Gudjonsson, S.A., Richardsson, B., Sigurdardottir, S., Barnard, J., Hallbeck, B., Masson, G. et al. (2002) A high-resolution recombination map of the human genome. Nat. Genet., 31, 241-247.
19. Brenner, H.R., Witzemann, V. and Sakmann, B. (1990) Imprinting of acetylcholine receptor messenger RNA accumulation in mammalian neuromuscular synapses. Nature, 344, 544-547.
20. Simon, A.M., Hoppe, P. and Burden, S.J. (1992) Spatial restriction of AChR gene expression to subsynaptic nuclei. Development, 114, 545-553.
21. Moscoso, L.M., Merlie, J.P. and Sanes, J.R. (1995) N-CAM, 43K-rapsyn, and S-laminin mRNAs are concentrated at synaptic sites in muscle fibers. Mol. Cell. Neurosci., 6, 80-89.
22. Schaeffer, L., Duclert, N., Huchet-Dymanus, M. and Changeux, J.P. (1998) Implication of a multisubunit Ets-related transcription factor in synaptic expression of the nicotinic acetylcholine receptor. EMBO J., 17, 3078-3090.
23. Fromm, L. and Burden, S.J. (1998) Synapse-specific and neuregulin-induced transcription require an Ets site that binds GABPα/GABPβ. Genes Dev., 12, 3074-3083.
24. Koike, S., Schaeffer, L. and Changeux, J.P. (1995) Identification of a DNA element determining synaptic expression of the mouse acetylcholine receptor delta-subunit gene. Proc. Natl Acad. Sci. USA, 92, 10624-10628.
25. Duclert, A., Savatier, N., Schaeffer, L. and Changeux, J.P. (1996) Identification of an element crucial for the sub-synaptic expression of the acetylcholine receptor epsilon-subunit gene. J. Biol. Chem., 271, 17433-17438.
26. Khurana, T.S., Rosmarin, A.G., Shang, J., Krag, T.O.B., Das, S. and Gammeltoft, S. (1999) Activation of utrophin promoter by heregulin via the ets-related transcription factor complex GA-binding protein alpha/beta. Mol. Biol. Cell, 10, 2075-2086.
27. Gramolini, A.O., Angus, L.M., Schaeffer, L., Burton, E.A., Tinsley, J.M., Davies, K.E., Changeux, J.P. and Jasmin, B.J. (1999) Induction of utrophin gene expression by heregulin in skeletal muscle cells: role of the N-box motif and GA binding protein. Proc. Natl Acad. Sci. USA, 96, 3223-3227.
28. Chan, R.Y.Y., Boudreau-Lariviere, C., Angus, L.M., Mankal, F.A. and Jasmin, B.J. (1999) An intronic enhancer containing an N-box motif is required for synapse- and tissue-specific expression of the acetylcholinesterase gene in skeletal muscle fibers. Proc. Natl Acad. Sci. USA, 96, 4627-4632.
29. Angus, L.M., Chan, R.Y.Y. and Jasmin, B.J. (2001) Role of intronic E and N-box motifs in the transcriptional induction of the acetylcholinesterase gene during myogenic differentiation. J. Biol. Chem., 276, 17603-17609.
30. de Kerchove d'Exaerde, A., Cartaud, J., Ravel-Chapuis, A., Seroz, T., Pasteau, F., Angus, L.M., Jasmin, B.J., Changeux, J.P. and Schaeffer, L. (2002) Expression of mutant Ets protein at the neuromuscular synapse causes alterations in morphology and gene expression. EMBO Rep., 3, 1075-1081.
31. Piette, J., Bessereau, J.L., Huchet, M. and Changeux, J.P. (1990) Two adjacent MyoD1-binding sites regulate expression of the acetylcholine receptor alpha-subunit gene. Nature, 345, 353-355.
32. Simon, A.M. and Burden, S.J. (1993) An E-box mediates activation and repression of the acetylcholine receptor delta-subunit gene during myogenesis. Mol. Cell. Biol., 13, 5133-5140.
33. Tang, J., Jo, S.A. and Burden, S.J. (1994) Separate pathways for synapse-specific and electrical activity-dependent gene expression in skeletal muscle. Development, 120, 1799-1804.
34. Bessereau, J.L., Stratford-Perricaudet, L.D., Piette, J., LePoupon, C. and Changeux, J.P. (1994) In vivo and in vitro analysis of electrical activity-dependent expression of muscle acetylcholine receptor genes using adenovirus. Proc. Natl Acad. Sci. USA, 91, 1304-1308.
35. Walke, W., Xiao, G.Z. and Goldman, D. (1996) Identification and characterization of a 47 base pair activity-dependent enhancer of the rat nicotinic acetylcholine receptor delta-subunit promoter. J. Neurosci., 16, 3641-3651.
36. Bessereau, J.L., Laudenbach, V., Lepoupon, C. and Changeux, J.P. (1998) Nonmyogenic factors bind nicotinic acetylcholine receptor promoter elements required for response to denervation. J. Biol. Chem., 273, 12786-12793.
37. Froehner, S.C. (1989) Expression of RNA transcripts for the postsynaptic 43 kDa protein in innervated and denervated rat skeletal muscle. FEBS Lett., 249, 229-233.
38. Frail, D.E., Musil, L.S., Buonanno, A. and Merlie, J.P. (1989) Expression of RAPsyn (43K protein) and nicotinic acetylcholine receptor genes is not coordinately regulated in mouse muscle. Neuron, 2, 1077-1086.
39. Kostrominova, T.Y., Macpherson, P.C., Carlson, B.M. and Goldman, D. (2000) Regulation of myogenin protein expression in denervated muscles from young and old rats. Am. J. Physiol. Regul. Integr. Comp. Physiol., 279, R179-188.
40. Carlsen, H. and Gundersen, K. (2000) Helix-loop-helix transcription factors in electrically active and inactive skeletal muscles. Muscle Nerve, 23, 1374-1380.
41. Ma, P.C., Rould, M.A., Weintraub, H. and Pabo, C.O. (1994) Crystal structure of MyoD bHLH domain-DNA complex: perspectives on DNA recognition and implications for transcriptional activation. Cell, 77, 451-459.
42. Davis, R.L. and Weintraub, H. (1992) Acquisition of myogenic specificity by replacement of three amino acid residues from MyoD into E12. Science, 256, 1027-1030.
43. Blackwell, T.K. and Weintraub, H. (1990) Differences and similarities in DNA-binding preferences of MyoD and E2A protein complexes revealed by binding site selection. Science, 250, 1104-1110.
44. Weintraub, H., Davis, R., Lockshon, D. and Lassar, A. (1990) MyoD binds cooperatively to two sites in a target enhancer sequence: occupancy of two sites is required for activation. Proc. Natl Acad. Sci. USA, 87, 5623-5627.
45. Li, H. and Capetanaki, Y. (1994) An E box in the desmin promoter cooperates with the E box and MEF-2 sites of a distal enhancer to direct muscle-specific transcription. EMBO J., 13, 3580-3589.
46. Berberich, C., Durr, I., Koenen, M. and Witzemann, V. (1993) Two adjacent E-box elements and a M-CAT box are involved in the muscle-specific regulation of the rat acetylcholine receptor beta subunit gene. Eur. J. Biochem., 216, 395-404.
47. Zingg, J.M., Pedraza-Alva, G. and Jost, J.P. (1994) MyoD1 promoter autoregulation is mediated by two proximal E-boxes. Nucl. Acids Res., 22, 2234-2241.
48. + channel gene expression. J. Biol. Chem., 273, 11327-11334.
49. + channel promoter E-box and an upstream repressor element. Release of repression by myogenin. J. Biol. Chem., 274, 8129-8136.
50. Engel, A.G. (1994) The muscle biopsy. In Engel, A.G. and Franzini-Armstrong, C. (eds), Myology 2nd edn. McGraw-Hill, New York, Vol. 1, pp. 822-831.
51. Engel, A.G. (1994) Quantitative morphological studies of muscle. In Engel, A.G. and Franzini-Armstrong, C. (eds), Myology. 2nd edn. McGraw-Hill, New York, Vol. 1, pp. 1018-1045.
52. Fambrough, D.M., Engel, A.G. and Rosenberry T.L. (1982) Acetylcholinesterase of human erythrocytes and neuromuscular junctions: homologies revealed by monoclonal antibodies. Proc. Natl Acad. Sci. USA, 79, 1078-1082.
53. Engel, A.G., Nagel, A., Walls, T.J., Harper, C.M. and Waisburg, H.A. (1993) Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor. Muscle Nerve, 16, 1284-1292.
54. Uchitel, O., Engel, A.G., Walls, T.J., Nagel, A., Atassi, M.Z. and Bril, V. (1993) Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve, 16, 1293-1301.
55. Dorit, R.L., Ohara, O., Hwang, C.B.-C., Kim, J.B. and Blackshaw, S. (2001) Direct DNA sequencing of PCR products. In Ausubel, F.M., Brent, R., Kingston, R.E., Moore, D.D., Seidman, J.G., Smith, J.A. and Struhl, K. (eds), Current Protocols in Molecular Biology. Wiley, New York, Vol. 3, Unit 15.12.
56. Ohno, K., Hutchinson, D.O., Milone, M., Brengman, J.M., Bouzat, C., Sine, S.M. and Engel, A.G. (1995) Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the e subunit. Proc. Natl Acad. Sci. USA, 92, 758-762.
57. Bottema, C.D. and Sommer, S.S. (1993) PCR amplification of specific alleles: rapid detection of known mutations and polymorphisms. Mutat. Res., 288, 93-102.
58. Kozak, M. (1987) An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucl. Acids Res., 15, 8125-8148.
59. van Houten, V., Denkers, F., van Dijk, M., van den Brekel, M. and Brakenhoff, R. (1998) Labeling efficiency of oligonucleotides by T4 polynucleotide kinase depends on 5′-nucleotide. Anal. Biochem., 265, 386-389.
60. Annicotte, J.-S., Schoojans, K., Haby, C. and Auwerx, J. (2001) An E-box in pGL3 reporter vectors precludes their use for the study of sterol regulatory element binding proteins. Biotechniques, 31, 993-996.