A novel mutation in the switch 3 region of G(s)α in a patient with albright hereditary osteodystrophy impairs GDP binding and receptor activation

Journal of Biological Chemistry

Volumn 273, Issue 37, 1998, Pages 23976-23983

  Warner, Dennis R ^a,e   Weng, Gezhi ^c   Yu, Shuhua ^b   Matalon, Reuben ^d   Weinstein, Lee S ^b  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ALUMINUM CHLORIDE; ARGININE; DNA; FLUORIDE SODIUM; GUANOSINE 5' O (3 THIOTRIPHOSPHATE); GUANOSINE DIPHOSPHATE; GUANOSINE TRIPHOSPHATASE; ISOPRENALINE; MESSENGER RNA; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; TRYPTOPHAN;

ADULT; ALBRIGHT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; CRYSTAL STRUCTURE; ERYTHROCYTE MEMBRANE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DENATURATION; PSEUDOPSEUDOHYPOPARATHYROIDISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SUCROSE DENSITY GRADIENT CENTRIFUGATION; TEMPERATURE SENSITIVITY;

ADENYLATE CYCLASE; ADULT; ALANINE; ALUMINUM COMPOUNDS; AMINO ACID SEQUENCE; ARGININE; BASE SEQUENCE; BINDING SITES; CLONING, MOLECULAR; ERYTHROCYTE MEMBRANE; ESCHERICHIA COLI; EXONS; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; FLUORIDES; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; GUANOSINE 5'-O-(3-THIOTRIPHOSPHATE); GUANOSINE DIPHOSPHATE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN BIOSYNTHESIS; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, CELL SURFACE; RECOMBINANT PROTEINS; RNA, MESSENGER; TRANSCRIPTION, GENETIC; TRYPTOPHAN;

EID: 0032508659     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.273.37.23976     Document Type: Article

References (41)

1. Spiegel, A. M., Shenker, A., and Weinstein, L. S. (1992) Endocr. Rev. 13, 536-565
2. Neer, E. J. (1995) Cell 80, 248-257
3. Birnbaumer, L., Abramowitz, J., and Brown, A. M. (1990) Biochim. Biophys. Acta Rev. Biomembr. 1031, 163-224
4. Yatani, A., Codina, J., Imoto, Y., Reeves, J. P., Birnbaumer, L., and Brown, A. M. (1987) Science 238, 1288-1292
5. Schreibmayer, W., Dessauer, W., Vorobiev, D., Gilman, A. G., Lester, H. A., Davidaon, N., and Dascal, N. (1996) Nature 380, 624-627
6. Noel, J. P., Hamm, H. E., and Sigler, P. B. (1993) Nature 366, 654-663
7. Lambright, D. G., Noel, J. P., Hamm, H. E., and Sigler, P. B. (1994) Nature 369, 621-628
8. Coleman, D. E., Berghuis, A. M., Lee, E., Linder, M. E., Gilman, A. G., and Sprang, S. R. (1994) Science 265, 1405-1412
9. Wall, M. A., Coleman, D. E., Lee, E., Iñiguez-Lluhi, J. A., Posner, B. A., Gilman, A. G., and Sprang, S. R. (1995) Cell 83, 1047-1058
10. Mixon, M. B., Lee, E., Coleman, D. E., Berghuis, A. M., Gilman, A. G., and Sprang, S. R. (1995) Science 270, 954-960
11. Lambright, D. G., Sondek, J., Bohm, A., Skiba, N. P., Hamm, H. E., and Sigler, P. B. (1996) Nature 379, 297-299
12. Sunahara, R. K., Tesmer, J. J. G., Gilman, A. G., and Sprang, S. R. (1997) Science 278, 1943-1947
13. Li, Q., and Cerione, R. A. (1997) J. Biol. Chem. 272, 21673-21676
14. Patten, J. L., Johns, D. R., Valle, D., Eil, C., Gruppuso, P. A., Steele, G., Smallwood, P. M., and Levine, M. A. (1990) N. Engl. J. Med. 322, 1412-1419
15. Weinstein, L. S., Gejman, P. V., Friedman, E., Kadowaki, T., Collins, R. M., Gershon, E. S., and Spiegel, A. M. (1990) Proc. Natl. Acad. Sci. U. S. A. 87, 8287-8290
16. Schwindinger, W. F., Miric, A., Zimmennan, D., and Levine, M. A. (1994) J. Biol. Chem. 269, 25387-25391
17. Iiri, T., Herzmark, P., Nakamoto, J. M., Van Dop, C., and Bourne, H. R. (1994) Nature 371, 164-167
18. Warner, D. R., Gejman, P. V., Collins, R. M., and Weinstein, L. S. (1997) Mol. Endocrinol. 11, 1718-1727
19. Iiri, T., Farfel, Z., and Bourne, H. R. (1997) Proc. Natl. Acad. Sci. U. S. A. 94, 5656-5661
20. Codina, J., and Birnbaumer, L. (1994) J. Biol. Chem. 269, 29339-29342
21. Levine, M. A., Downs, R. W., Jr., Singer, M., Marx, S. J., Aurbach, G. D., and Spiegel, A. M. (1980) Biochem. Biophys. Res. Commun. 94, 1319-1324
22. Simonds, W. F., Goldsmith, P. K., Woodard, C. J., Unson, C. G., and Spiegel, A. M. (1989) FEES Lett. 249, 189-194
23. Gejman, P. V., and Weinstein, L. S. (1994) Methods Enzymol. 237, 308-321
24. Kozasa, T., Itoh, H., Tsukamoto, T., and Kaziro, Y. (1988) Proc. Natl. Acad. Sci. U. S. A. 85, 2081-2085
25. Sternweis, P. C., Northup, J. K., Smigel, M. D., and Gilman, A. G. (1981) J. Biol. Chem. 256, 11517-11526
26. Salomon, Y., Londos, C., and Rodbell, M. (1974) Anal. Biochem. 58, 541-548
27. Basi, N. S., and Rebois, R. V. (1997) Anal. Biochem. 251, 103-109
28. Roof, D, J., Applebury, M. L., and Sternweis, P. C. (1985) J. Biol. Chem. 260, 16242-16249
29. Lee, E., Linder, M. E., and Gilman, A. G. (1994) Methods Enzymol. 237, 146-163
30. Carty, D. J., and Iyengar, R. (1994) Methods Enzymol. 237, 38-44
31. Miller, R. T., Masters, S. B., Sullivan, K. A., Beiderman, B., and Bourne, H. R. (1988) Nature 334, 712-715
32. Ferguson, K. M., Higashijima, T., Smigel, M. D., and Gilman, A. G. (1986) J. Biol. Chem. 261, 7393-7399
33. Graziano, M. P., and Gilman, A. G. (1989) J. Biol. Chem. 264, 15475-15482
34. Graziano, M. P., Freissmuth, M., and Gilman, A. G. (1989) J. Biol. Chem. 264, 409-418
35. Markby, D. W., Onrust, R., and Bourne, H. R. (1993) Science 262, 1895-1901
36. Northup, J. K., Smigel, M. D., and Gilman, A. G. (1982) J. Biol. Chem. 257, 11416-11423
37. Onrust, R., Herzmark, P., Chi, P., Garcia, P. D., Lichtarge, O., Kingsley, C., and Bourne, H. R. (1997) Science 275, 381-384
38. Grishina, G., and Berlot, C. H. (1998) J. Biol. Chem. 273, 15053-15060
39. Farfel, Z., Iiri, T., Shapira, H., Roitman, A., Mouallem, M., and Bourne, H. R. (1996) J. Biol. Chem. 271, 19653-19655
40. Craig, D., Howell, M. T., Gibbs, C. L., Hunt, T., and Jackson, R. J. (1992) Nucleic Acids Res. 20, 4987-4995
41. Gilman, A. G. (1987) Annu. Rev. Biochem. 56, 615-649