Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix

Biochemical Journal

Volumn 403, Issue 1, 2007, Pages 79-87

  Macías, María J ^a   Teijido, Oscar ^b   Zifarelli, Giovanni ^c   Martin, Pau ^a   Ramirez Espain, Ximena ^a   Zorzano, Antonio ^a,b   Palacín, Manuel ^a,b   Pusch, Michael ^c   Estévez, Raúl ^a,b,d  

^a INSTITUTE FOR RESEARCH IN BIOMEDICINE   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c UNIVERSITY OF GENOA   (Italy)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

ClC 1 chloride channel; Common gating; Myotonia; NMR; Poly proline helix; Skeletal muscle

Indexed keywords

BIOCHEMISTRY; DISEASES; MUSCLE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PROTEINS;

CLC-1 CHLORIDE CHANNEL; COMMON GATING; MYOTONIA; POLYPROLINE HELIX; SKELETAL MUSCLES;

CHLORINE COMPOUNDS;

CHLORIDE CHANNEL; PROLINE; UNCLASSIFIED DRUG; VOLTAGE DEPENDENT CHLORIDE CHANNEL 0; VOLTAGE DEPENDENT CHLORIDE CHANNEL 1;

ALPHA HELIX; ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; MUTATION; MYOTONIA; NONHUMAN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN STRUCTURE;

EID: 34147166660     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/BJ20061230     Document Type: Article

References (34)

1. Koch, M. C., Steinmeyer, K., Lorenz, C., Ricker, K., Wolf, F., Otto, M., Zoll, B., Lehmann-Horn, F., Grzeschik, K. H. and Jentsch, T. J. (1992) The skeletal muscle Chloride channel in dominant and recessive human myotonia. Science 257, 797-800
2. George, Jr, A. L., Crackower, M. A., Abdalla, J. A., Hudson, A. J. and Ebers, G. C. (1993) Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat. Genet. 3, 305-310
3. Jentsch, T. J., Lorenz, C., Pusch, M. and Steinmeyer, K. (1995) Myotonias due to CLC-1 chloride channel mutations. Soc. Gen. Physiol. Ser. 50, 149-159
4. Pusch, M. (2002) Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum. Mutet. 19, 423-434
5. - channels gleaned from human genetic disease and mouse models. Annu. Rev. Physiol. 67, 779-807
6. Pusch, M., Steinmeyer, K., Koch, M. C. and Jentsch, T. J. (1995) Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the ClC-1 chloride channel. Neuron 15, 1455-1463
7. Saviane, C., Conti, F. and Pusch, M. (1999) The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia. J. Gen. Physiol. 113, 457-468
8. Pusch, M., Ludewig, U. and Jentsch, T. J. (1997) Temperature dependence of fast and slow gating relaxations of ClC-0 chloride channels. J. Gen. Physiol. 109, 105-116
9. Duffield, M., Rychkov, G., Bretag, A. and Roberts, M. (2003) Involvement of helices at the dimer interface in ClC-1 common gating. J. Gen. Physiol. 121, 149-161
10. Estévez, R. and Jentsch, T. J. (2002) CLC chloride channels: correlating structure with function. Curr. Opin. Struct. Biol. 12, 531-539
11. Estévez, R., Pusch, M., Ferrer-Costa, C., Orozco, M. and Jentsch, T. J. (2004) Functional and structural conservation of CBS domains from CLC chloride channels. J. Physiol. 557, 363-378
12. Fong, P., Rehfeldt, A. and Jentsch, T. J. (1998) Determinants of slow gating in ClC-0, the voltage-gated chloride channel of Torpedo marmorata. Am. J. Physiol. 274, C966-C973
13. Hebeisen, S., Biela, A., Giese, B., Muller-Newen, G., Hidalgo, P. and Fahlke, C. (2004) The role of the carboxyl terminus in ClC chloride channel function. J. Biol. Chem. 279, 13140-13147
14. Hebeisen, S. and Fahlke, C. (2005) Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride channels. Biophys. J. 89, 1710-1720
15. Hryciw, D. H., Rychkov, G. Y., Hughes, B. P. and Bretag, A. H. (1998) Relevance of the D13 region to the function of the skeletal muscle chloride channel, ClC-1. J. Biol. Chem. 273, 4304-4307
16. Meyer, S. and Dutzler, R. (2006) Crystal structure of the cytoplasmic domain of the chloride channel ClC-0. Structure 14, 299-307
17. Ignoul, S. and Eggermont, J. (2005) CBS domains: structure, function, and pathology in human proteins. Am. J. Physiol. Cell Physiol. 289, C1369-C1378
18. Miller, M. D., Schwarzenbacher, R., von Delft, F., Abdubek, P., Ambing, E., Biorac, T., Brinen, L. S., Canaves, J. M., Cambell, J., Chiu, H. J. et al. (2004) Crystal structure of a tandem cystathionine-β-synthase (CBS) domain protein (TM0935) from Thermotoga maritima at 1.87 A resolution. Proteins 57, 213-217
19. Yusef, Y. R., Zuniga, L., Catalan, M., Niemeyer, M. I., Cid, L. P. and Sepulveda, F. V. (2006) Removal of gating in voltage-dependent ClC-2 chloride channel by point mutations affecting the pore and C-terminus CBS-2 domain. J. Physiol. 572, 173-181
20. George, Jr, A. L., Sloan-Brown, K., Fenichel, G. M., Mitchell, G. A., Spiegel, R. and Pascuzzi, R. M. (1994) Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum. Mol. Genet. 3, 2071-2072
21. Meyer-Kleine, C., Steinmeyer, K., Ricker, K., Jentsch, T. J. and Koch, M. C. (1995) Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am. J. Hum. Genet. 57, 1325-1334
22. Papponen, H., Toppinen, T., Baumann, P., Myllyla, V., Leisti, J., Kuivaniemi, H., Tromp, G. and Myllyla, R. (1999) Founder mutations and the high prevalence of myotonia congenita in northern Finland. Neurology 53, 297-302
23. Beck, C. L., Fahlke, C. and George, Jr, A. L. (1996) Molecular basis for decreased muscle chloride conductance in the myotonic goat. Proc. Natl. Acad. Sci. U.S.A. 93, 11248-11252
24. Bartels, C., Xia, T. H., Billeter, M., Guntert, P. and Wuthrich, K. (1995) The program Xeasy for computer-supported NMR spectral-analysis of biological macromolecules. J. Biomol. NMR 6, 1-10
25. Nagamitsu, S., Matsuura, T., Khajavi, M., Armstrong, R., Gooch, C., Harati, Y. and Ashizawa, T. (2000) A 'dystrophic' variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. Neurology 55, 1697-1703
26. Simpson, B. J., Height, T. A., Rychkov, G. Y., Nowak, K. J., Laing, N. G., Hughes, B. P. and Bretag, A. H. (2004) Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression. Hum. Mutat. 24, 185
27. Maduke, M., Williams, C. and Miller, C. (1998) Formation of CLC-0 chloride channels from separated transmembrane and cytoplasmic domains. Biochemistry 37, 1315-1321
28. + channel. J. Gen. Physiol. 113, 415-423
29. Adzhubei, A. A. and Sternberg, M. J. (1993) Lett-handed polyproline II helices commonly occur in globular proteins. J. Mol. Biol. 229, 472-493
30. Macias, M. J., Wiesner, S. and Sudol, M. (2002) WW and SH3 domains, two different scaffolds to recognize proline-rich ligands. FEBS Lett. 513, 30-37
31. Pires, J. R., Parthier, C., Aido-Machado, R., Wiedemann, U., Otte, L., Bohm, G., Rudolph, R. and Oschkinat, H. (2005) Structural basis for APPTPPPLPP peptide recognition by the FBP11WW1 domain. J. Mol. Biol. 348, 399-408
32. Grathwohl, C. and Wuthrich, K. (1981) NMR-studies of the rates of proline cis-trans isomerization in oligopeptides. Biopolymers 20, 2623-2633
33. Koradi, R., Billeter, M. and Wuthrich, K. (1996) MOLMOL: a program for display and analysis of macromolecular structures. J. Mol. Graphics 14, 51-55
34. - channel. J. Gen. Physiol. 108, 237-250