Functional characterization of mutations in melanocortin-4 receptor associated with human obesity

Journal of Biological Chemistry

Volumn 274, Issue 50, 1999, Pages 35816-35822

  Ho, Guyu ^a   MacKenzie, Robert G ^a  

^a PFIZER INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MELANOCORTIN RECEPTOR;

ANIMAL CELL; ARTICLE; CELL TRANSPORT; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; HUMAN; IMMUNOFLUORESCENCE; NONHUMAN; OBESITY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN TRANSPORT; SIGNAL TRANSDUCTION;

ADENYLATE CYCLASE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CELL LINE; CELL MEMBRANE; COS CELLS; FRAMESHIFT MUTATION; HUMANS; KINETICS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; OBESITY; PROTEIN CONFORMATION; PROTEIN STRUCTURE, SECONDARY; RECEPTOR, MELANOCORTIN, TYPE 4; RECEPTORS, PEPTIDE; RECOMBINANT PROTEINS; SEQUENCE DELETION; TRANSFECTION;

EID: 0033544936     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.274.50.35816     Document Type: Article

References (50)

1. Mountjoy, K. G., Robbins, L. S., Mortrud, M. T., and Cone, R. G. (1992) Science 257, 1248-1251
2. Mountjoy, K. G., Mortrud, M. T., Low, M. J., Simerly, R. B., and Cone, R. D. (1994) Mol. Endocrinol. 8, 1298-1308
3. Labbé, O., Desarnaud, F., Eggerickx, D, Vassart, G., and Parmentier, M. (1994) Biochemistry 33, 4543-4549
4. Gantz, I., Shimoto, Y., Konda, Y., Miwa, H., Dickinson, C. J., and Yamada, T. (1994) Biochem. Biophys. Res. Commun. 200, 1214-1220
5. Griffon, X., Mignon, V., Facchinetti, P., Diaz, J., Schwartz, J. C., Sokoloff, P. (1994) Biochem. Biophys. Res. Commun. 200, 1007-1014
6. Chen, W., Kelly, M. A., Opitz-Araya, X., Thomas, R. E., Low, M. J., and Cone, R. D. (1997) Cell 91, 789-798
7. Gantz, I., Konda, Y., Tashiro, T., Shimoto, Y., Miwa, H., Munzert, G., Watson, S. J., DelValle, J., and Yamada, T. (1993) J. Biol. Chem. 268, 8246-8250
8. Gantz, I., Miwa, H., Konda, Y., Shimoto, Y., Tashiro, T., Watson, S. J., DelValle, J., and Yamada, T. (1993) J. Biol. Chem. 268, 15174-1517
9. Woods, S. C., Seeley, R. J., Porte, D., Jr., and Schwartz, M. W. (1998) Science 280, 1378-1383
10. Fan, W., Boston, B. A., Kesterson, R. A., Hruby, V. J., and Cone, R. D. (1997) Nature 385, 165-168
11. Ollmann, M. M., Wilson, B. D., Yang, Y., Kerns, J. A., Chen, Y., Gantz, I., and Barsh, G. S. (1997) Science 278, 135-138
12. Shutter, J. R., Graha, M., Kinsey, A. C., Scully, S., Lüthy, R., and Stark, K. L. (1997) Genes Dec. 11, 593-602
13. Huszar, D., Lynch, C. A., Fairchild-Huntress, V., Dunmore, J. H., Fang, Q., Berkemeier, L. R., Gu, W., Kesterson, R. A., Boston, B. A., Cone, R. D., Smith, F. J., Campfield, L. A., Burn, P., and Lee, F. (1997) Cell 88, 131-141
14. Seeley, R. J., Yagaloff, K. A., Fisher, S. L., Bum, P., Thiele, T. E., Van Dijk, G., Baskin, D. G., and Schwartz, M. W. (1997) Nature 390, 349
15. Kask, A., Rago, L., Wikberg, J. E. S., Yeo, G. S. H., Farooqi, I. S., Aminian, S., Halsall, D. J., Stanhope, R. G., and Schioth, H. B. (1998) Eur. J. Pharmacol. 360, 15-19
16. Krude, H., Biebermann, H., Luck, W., Horn, R., Braband, G., and Grüters, A. (1997) Nat. Genet. 19, 155-157
17. Comuzzie, A. G., Hixson, J. E., Almasy, L., Mitchell, B. D., Mahaney, M. C., Dyer, T. D., Stern, M. P., MacCluer, J. W., and Blangero, J. (1997) Nat. Genet. 15, 273-276
18. Yeo, G. S. H., Farooqi, I. S., Aminian, S., Halsall, D. J., Stanhope, R. G., and O'Rahilly, S. (1998) Nat. Genet. 20, 111-112
19. Vaisse, C., Clement, K., Guy-Grand, B., and Froguel, P. (1998) Nat. Genet. 20, 113-114
20. Jackson, R. S., Creemers, J. W., Ohagi, S., Raffin-Sanson, M. L., Sanders, L., Montague, C. T., Hutton, J. C., and O'Rahilly, S. (1997) Nat. Genet. 16, 218-220
21. Montague, C. T., Farooqi, I. S., Whitehead, J. P., Soos, M. A., Rau, H., Wareham, N. J., Sewter, C. P., Digbe, J. E., Mohammed, S. N., Hurst, J. A., Cheetham, C. H., Earley, A. R., Barnett, A. H., Prins, J. B., and O'Rahilly, S. (1997) Nature 387, 903-908
22. Strobel, A., Issad, T., Camoin, L., Ozata, M., and Strosberg, A. D. (1998) Nat. Genet. 18, 213-215
23. Clement, K., Vaisse, C., Lahlou, N., Cabrol, S., Pelloux, V., Cassuto, D., Gourmelen, M., Dina, C., Chambaz, J., Lacorte, J. M., Basdevant, A., Bougneres, P., Lebouc, Y., Froguel, P., and Guy-Grand, B. (1998) Nature 392, 398-401
24. Hebert, T. E., and Bouvier, M. (1998) Cell Biol. 76, 1-11
25. Bockaert, J., and Pin, J. P. (1999) EMBO J. 18, 1723-1729
26. Gotoda, T., Scott, J., and Aitman, T. J. (1997) Diabetologia 40, 976-979
27. Ho, G., Chen, T. L., and Chisholm, R. L. (1995) J. Biol. Chem. 270, 27977-27981
28. Zhu, X., and Wess, J. (1998) Biochemistry 37, 15773-15784
29. Dohlman, H. G., and Thorner, J. (1997) J. Biol. Chem. 272, 3871-3874
30. Ji, T. H., Grossmann, M., and Ji, I. (1998) J. Biol. Chem. 273, 17299-17302
31. Yang, Y., Dickinson, C., Haskell-Luevano, C., and Gantz, I. (1997) J. Biol. Chem. 272, 23000-23010
32. Xiong, X., Hammond, C., and Helenius, A. (1995) Curr. Opin. Cell Biol. 7, 523-529
33. Schöneberg, T., Lui, J., and Wess, J. (1995) J. Biol. Chem. 270, 18000-18006
34. Ling, K., Wang, P., Zhao, J., Wu, Y., Cheng, Z., Wu, G., Hu, W., Ma, L., and Pei, G. (1999) Proc. Natl. Acad. Sci. U. S. A. 96, 7922-7927
35. Unson, C. G., Cypess, A. M., Kim, H. N., Goldsmith, P. K., Carruthers, C. J., Merrifield, R. B., and Sakmar, T. P. (1995) J. Biol. Chem. 270, 27720-27721
36. Heymann, J. A., and Subramaniam, S. (1997) Proc. Natl. Acad. Sci. U. S. A. 94, 4966-4971
37. Schulein, R., Liebenhoff, U., Muller, H., Birnbaumer, M., and Rosenthal, W. (1996) Biochem J. 313, 611-616
38. Schulein, R., Hermosilla, R., Oksche, A., Dehe, M., Wiesner, B., Krause, G., and Rosenthal, W. (1998) Mol. Pharmacol. 54, 525-535
39. Hebert, T. E., Moffett, S., Morello, J., Loisel, T. P., Bichet, D. G., Barret, C., and Bouvier, M. (1996) J. Biol. Chem. 271, 16384-16392
40. Romano, C., Yang, W., and O'Malley, K. L. (1996) J. Biol. Chem. 271, 28612-28616
41. Cevejic, S., and Devi, L. A. (1997) J. Biol. Chem. 272, 26959-26964
42. Nimchinsky, E. A., Hof, P. R., Janssen, W. G., Morrison, J. H., and Schmauss, C. (1997) J. Biol. Chem. 272, 29229-29237
43. Kuner, R., Kohr, G., Grumewald, S., Gisela, E., Bach, A., and Kornau, H. (1999) Science 283, 74-77
44. Jones, K. A., Borowsky, B., Tamm, J. A., Craig, D. A., Durkin, M. M., Dai, M., Yao, W., Johnson, M., Gunwaldsen, C., Huang, L., Tang, C., Shen, Q., Salon, J. A., Morse, K., Laz, T., Smith, K. E., Branchek, T. A., and Gerald, C. (1999) Nature 396, 674-679
45. White, J. H., Wise, A., Main, M. J., Green, A., Fraser, N. J., Disney, G. H., Barnes, A. A., Emson, P., Foord, S. M., and Marshall, F. H. (1999) Nature 396, 679-682
46. Kaupmann, K., Malitachek, B., Schuler, V., Heid, J., Froestl, W., Beck, P., Mosbacher, J., Bischoff, S., Kulik, A., Shigemoto, R., Karshin, A., and Bettle, B. (1999) Nature 396, 683-687
47. Jordan, B. A., and Devi, L. A. (1999) Nature 399, 697-700
48. Hinney, A., Schmidt, A., Nottebom, K., Heibult, O., Becker, I., Ziegler, A., Gerber, G., Sina, M., Gorg, T., Mayer, H., Siegfried, W., Fichter, M., Remschmidt, H., and Hebebrand, J. (1999) J. Clin. Endocrinol. Metabol. 84, 1485-1486
49. Robbins, L. S., Nadeau, J. H., Johnson, K. R., Kelly, M. A., Roselli-Rehfuss, L., Baack, E., Mountjoy, K. G., and Cone, R. D. (1993) Cell 72, 827-834
50. Gu, W., Tu, Z., Kleyn, P. W., Kissebah, A., Duprat, L., Lee, J., Chin, W., Maruti, S., Deng, N., Fisher, S. L., Franco, L. S., Burn, P., Yagaloff, K. A., Nathan, J., Heymsfield, S., Albu, J., Pi-Sunyer, F. X., and Allison, D. B. (1999) Diabetes 48, 635-639