Two resistance to thyroid hormone mutants with impaired hormone binding

Molecular Endocrinology

Volumn 17, Issue 4, 2003, Pages 643-652

  Huber, B Russell ^a   Sandler, Ben ^b   West, Brian L ^b   Cunha Lima, Suzana T ^b   Nguyen, Hoa T ^b   Apriletti, James W ^b   Baxter, John D ^b   Fletterick, Robert J ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIGAND; LIOTHYRONINE; RECEPTOR SUBUNIT; THYROID HORMONE RECEPTOR; TIRATRICOL;

ARTICLE; BINDING AFFINITY; BINDING SITE; CONTROLLED STUDY; CRYSTAL STRUCTURE; DNA BINDING; ESCHERICHIA COLI; HORMONE BINDING; HORMONE RESISTANCE; HYDROGEN BOND; LIGAND BINDING; MUTANT; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECEPTOR BINDING; TRANSCRIPTION INITIATION; X RAY CRYSTALLOGRAPHY;

ARGININE; BINDING SITES; CRYSTALLOGRAPHY, X-RAY; HISTIDINE; HUMANS; HYDROGEN BONDING; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, THYROID HORMONE; THREONINE; THYROID HORMONE RECEPTORS BETA; THYROID HORMONE RESISTANCE SYNDROME; TRIIODOTHYRONINE;

ESCHERICHIA COLI;

EID: 0037385119     PISSN: 08888809     EISSN: None     Source Type: Journal    
DOI: 10.1210/me.2002-0095     Document Type: Article

References (29)

1. Pinsky L, Trifiro M, Kaufman M, Beitel LK, Mhatre A, Kazemi-Esfarjani P, Sabbaghian N, Lumbroso R, Alvarado C, Vasiliou M, Gottlieb B 1992 Androgen resistance due to mutation of the androgen receptor. Clin Invest Med 15:456-472
2. Hurley DM, Accili D, Stratakis CA, Karl M, Vamvakopoulos N, Rorer E, Constantine K, Taylor SI, Chrousos GP 1991 Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance. J Clin Invest 87:680-686
3. Komesaroff PA, Funder JW, Fuller PJ 1994 Hormone-nuclear receptor interactions in health and disease, Mineralocorticoid resistance. Baillieres Clin Endocrinol Metab 8:333-355
4. Rut AR, Hewison M, Kristjansson K, Luisi B, Hughes MR, O'Riordan JL 1994 Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures. Clin Endocrinol (Oxf) 41:581-590
5. Gonzalez Sanchez JL, Serrano Rios M, Fernandez Perez C, Laakso M, Martinez Larrad MT 2002 Effect of the Pro12Ala polymorphism of the peroxisome proliferatoractivated receptor γ-2 gene on adiposity, insulin sensitivity and lipid profile in the Spanish population. Eur J Endocrinol 147:495-501
6. Refetoff S 1993 Resistance to thyroid hormone. Clin Lab Med 13:563-581
7. Pissios P, Tzameli I, Kushner P, Moore DD 2000 Dynamic stabilization of nuclear receptor ligand binding domains by hormone or corepressor binding. Mol Cell 6:245-253
8. Johnson BA, Wilson EM, Li Y, Moiler DE, Smith RG, Zhou G 2000 Ligand-induced stabilization of PPARγ monitored by NMR spectroscopy: implications for nuclear receptor activation. J Mol Biol 298:187-194
9. Wagner RL, Apriletti JW, McGrath ME, West BL, Baxter JD, Fletterick RJ 1995 A structural role for hormone in the thyroid hormone receptor. Nature 378:690-697
10. Wagner RL, Huber BR, Shiau AK, Kelly A, Cunha Lima ST, Scanlan TS, Apriletti JW, Baxter JD, West BL, Fletterick RJ 2001 Hormone selectivity in thyroid hormone receptors. Mol Endocrinol 15:398-410
11. Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK 1994 Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor β gene. J Clin Invest 94: 506-515
12. Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD 1991 Characterization of seven novel mutations of the c-erbA β gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain. J Clin Invest 88:2123-2130
13. Behr M, Loos U 1992 A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA β thyroid hormone receptor gene in a family with generalized thyroid hormone resistance. Mol Endocrinol 6:1119-1126
14. Onigata K, Yagi H, Sakurai A, Nagashima T, Nomura Y, Nagashima K, Hashizume K, Morikawa A 1995 A novel point mutation (R243Q) in exon 7 of the c-erbA β thyroid hormone receptor gene in a family with resistance to thyroid hormone. Thyroid 5:355-358
15. Ribeiro RC, Apriletti JW, Wagner RL, West BL, Feng W, Huber R, Kushner PJ, Nilsson S, Scanlan T, Fletterick RJ, Schaufele F, Baxter JD 1998 Mechanisms of thyroid hormone action: insights from X-ray crystallographic and functional studies. Recent Prog Horm Res 53:351-392
16. Geffner ME, Su F, Ross NS, Hershman JM, Van Dop C, Menke JB, Hao E, Stanzak RK, Eaton T, Samuels HH, Usala SJ 1993 An arginine to histidine mutation in codon 311 of the C-erbA β gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype. J Clin Invest 91:538-546
17. Collingwood TN, Adams M, Tone Y, Chatterjee VK 1994 Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone β-receptors in thyroid hormone resistance syndrome. Mol Endocrinol 8:1262-1277
18. Ercan-Fang S, Schwartz HL, Mariash CN, Oppenheimer JH 2000 Quantitative assessment of pituitary resistance to thyroid hormone from plots of the logarithm of thyrotropin vs. serum free thyroxine index. J Clin Endocrinol Metab 85:2299-2303
19. Cheng SY, Ransom SC, McPhie P, Bhat MK, Mixson AJ, Wintraub BD 1994 Analysis of the binding of 3,3′,5-triiodo-L-thyronine and its analogues to mutant human 1 thyroid hormone receptors: a model of the hormone binding site. Biochemistry (Mosc) 33:4319-4326
20. Hayashi Y, Weiss RE, Sarne DH, Yen PM, Sunthornthepvarakul T, Marcocci C, Chin WW, Refetoff S 1995 Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-β receptors? J Clin Endocrinol Metab 80:3246-3256
21. Sheinerman FB, Honig B 2002 On the role of electrostatic interactions in the design of protein-protein interfaces. J Mol Biol 318:161-177
22. Safer JD, Cohen RN, Hollenberg AN, Wondisford FE 1998 Defective release of corepressor by hinge mutants of the thyroid hormone receptor found in patients with resistance to thyroid hormone. J Biol Chem 273: 30175-30182
23. Huber BR, Desclozeaux M, West B, Cunha-Lima ST, Nguyen HT, Baxter JD, Ingraham HA, Fletterick RJ 2002 TRβ receptor mutations conferring hormone resistance and reduced corepressor release exhibit decreased stability in the N-terminal LBD. Mol Endocrinol 17:106-116
24. Apriletti JW, Baxter JD, Lau KH, West BL 1995 Expression of the rat α 1 thyroid hormone receptor ligand binding domain in Escherichia coli and the use of a ligand-induced conformation change as a method for its purification to homogeneity. Protein Expr Purif 6:363-370
25. Otwinowski Z, Minor W 1997 Processing of X-ray diffraction data collected in oscillation mode. Methods Enzymol 276:307-326
26. Brunger AT, Adams PD, Clore GM, DeLano WL, Gros P, Grosse-Kunstleve RW, Jiang JS, Kuszewski J, Nilges M, Pannu NS, Read RJ, Rice LM, Simonson T, Warren GL 1998 Crystallography and NMR system: a new software suite for macromolecular structure determination. Acta Crystallogr D Biol Crystallogr 54:905-921
27. Bailey S 1994 The CCP4 suite: programs for protein crystallography. Acta Crystallogr D Biol Crystallogr 50: 760-763
28. Kissinger CR, Gehlhaar DK, Fogel DB 1999 Rapid automated molecular replacement by evolutionary search. Acta Crystallogr D Biol Crystallogr 55:484-491
29. Darimont BD, Wagner RL, Apriletti JW, Stallcup MR, Kushner PJ, Baxter JD, Fletterick RJ, Yamamoto KR 1998 Structure and specificity of nuclear receptor-coactivator interactions. Genes Dev 12:3343-3356