Syndrome of resistance to thyroid hormone: Insights into thyroid hormone action (43951)

Experimental Biology and Medicine

Volumn 211, Issue 1, 1996, Pages 49-61

  Kopp, Peter ^a   Kitajima, Koichi ^a   Jameson, J Larry ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIOTHYRONINE; THYROID HORMONE RECEPTOR; THYROTROPIN; THYROXINE;

GENE MUTATION; HORMONE RECEPTOR INTERACTION; HORMONE RESPONSE; PATHOGENESIS; SHORT SURVEY; THYROID HORMONE RESISTANCE; THYROTROPIN BLOOD LEVEL; THYROTROPIN RELEASE;

AMINO ACID SEQUENCE; ANIMALS; BINDING SITES; DNA; GENE EXPRESSION REGULATION; HUMANS; MOLECULAR SEQUENCE DATA; RECEPTORS, THYROID HORMONE; THYROID HORMONE RESISTANCE SYNDROME; THYROID HORMONES; TRANS-ACTIVATION (GENETICS);

EID: 0030060417     PISSN: 00379727     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (73)

1. Jameson J, DeGroot L. Mechanisms of thyroid hormone action. In: DeGroot LJ, Ed. Endocrinology (3rd ed). Philadelphia: W. B. Saunders, pp583-601, 1994.
2. Tata JR, Widnell CC. Ribonucleic acid synthesis during the early action of thyroid hormone. Biochem J 98:604-620, 1966.
3. Shadlow AR, Surks MI, Schwartz HL, Oppenheimer JH. Specific triiodothyronine binding sites in the anterior pituitary of the rat. Science 176:1252-1254, 1972.
4. Koerner D, Schwartz HL, Surks MI, Oppenheimer JH. Binding of selected iodothyronine analogues to receptor sites of isolated rat hepatic nuclei. High correlation between structural requirements for nuclear binding and biological activity. J Biol Chem 250(16):6417-6423, 1975.
5. MacLeod KM, Baxter JD. Chromatin receptors for thyroid hormones: Interactions of the solubilized proteins with DNA. J Biol Chem 251:7380-7387, 1976.
6. Sap J, Munoz A, Damm K, Goldberg Y, Ghysdael J, Leutz A, Beug H, Vennstrom B. The c-erb-A protein is a high-affinity receptor for thyroid hormone. Nature 324(6098):635-640, 1986.
7. Weinberger C, Thompson CC, Ong ES, Lebo R, Gruol DJ, Evans RM. The c-erb-A gene encodes a thyroid hormone receptor. Nature 324(6098):641-646, 1986.
8. Thompson CC, Evans RM. Trans-activation by thyroid hormone receptors: Functional parallels with steroid hormone receptors. Proc Natl Acad Sci USA 86(10):3494-3498, 1989.
9. Baniahmad A, Ha I, Reinberg D, Tsai S, Tsai MJ, O'Malley BW. Interaction of human thyroid hormone receptor beta with transcription factor TFIIB may mediate target gene derepression and activation by thyroid hormone. Proc Natl Acad Sci USA 90(19):8832-8836, 1993.
10. Umesono K, Evans RM. Determinants of target gene specificity for steroid/thyroid hormone receptors. Cell 57(7):1139-1146, 1989.
11. Yu VC, Delsert C, Andersen B, Holloway JM, Devary OV, Naar AM, Kim SY, Boutin JM, Glass CK, Rosenfeld MG. RXR beta: A coregulator that enhances binding of retinoic acid, thyroid hormone, and vitamin D receptors to their cognate response elements. Cell 67(6):1251-1266, 1991.
12. Zechel C, Shen XQ, Chambon P, Gronemeyer H. Dimerization interfaces formed between the DNA binding domains determine the cooperative binding of RXR/RAR and RXR/TR heterodimers to DR5 and DR4 elements. Embo J 13(6):1414-1424, 1994.
13. Rastinejad F, Perlmann T, Evans RM, Sigler PB. Structural determinants of nuclear receptor assembly on DNA direct repeats. (see comments) Nature 375(6528):203-211, 1995.
14. Forman BM, Samuels HH. Interactions among a subfamily of nuclear hormone receptors: The regulatory zipper model. Mol Endocrinol 4:1293-1301, 1990.
15. Nagaya T, Jameson JL. Thyroid hormone receptor dimerization is required for dominant negative inhibition by mutations that cause thyroid hormone resistance. J Biol Chem 268(21):15766-15771, 1993.
16. Au-Fliegner M, Helmer E, Casanova J, Raaka B, Samuels H. The conserved ninth C-terminal heptad in thyroid hormone and retinoic acid receptors mediates diverse responses by affecting heterodimer but not homodimer formation. Mol Cell Biol 13:5725-5737, 1993.
17. Baniahmad A, Kohne AC, Renkawitz R. A transferable silencing domain is present in the thyroid hormone receptor, in the v-erbA oncogene product and in the retinoic acid receptor. Embo J 11(3):1015-1023, 1992.
18. Lee J, Ryan F, Swaffield J, Johnston S, Moore D. Interaction of thyroid hormone receptor with a conserved transcriptional mediator. Nature 374:91-94, 1995.
19. Lin KH, Parkison C, McPhie P, Cheng SY. An essential role of domain D in the hormone-binding activity of human beta 1 thyroid hormone nuclear receptor. Mol Endocrinol 5(4):485-492, 1991.
20. Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev 14(3):348-399. 1993.
21. Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest 94(2):506-515, 1994.
22. Toney JH, Wu L, Summerfield AE, Sanyal G, Forman BM, Zhu J, Samuels HH. Conformational changes in chicken thyroid hormone receptor alpha 1 induced by binding to ligand or to DNA. Biochemistry 32(1):2-6, 1993.
23. Yen PM, Darling DS, Carter RL, Forgione M, Umeda PK, Chin WW. Triiodothyronine (T3) decreases binding to DNA by T3-receptor homodimers but not receptor-auxiliary protein heterodimers. J Biol Chem 267(6):3565-3568, 1992.
24. Lazar MA. Thyroid hormone receptors: Multiple forms, multiple possibilities. Endocr Rev 14:184-193, 1993.
25. Koenig RJ, Lazar MA, Hodin RA, Brent GA, Larsen PR, Chin WW, Moore DD. Inhibition of thyroid hormone action by a non-hormone binding c-erbA protein generated by alternative mRNA splicing. Nature 337:659-661, 1989.
26. Brent GA, Moore DD, Larsen PR. Thyroid hormone regulation of gene expression. Annu Rev Physiol 53(17):17-35, 1991.
27. Glass C. Differential recognition of target genes by nuclear receptor monomers, dimers, and heterodimers. Endocr Rev 15:391-407, 1994.
28. Lazar MA. Thyroid hormone receptors: Update 1994. Endocr Rev 3:280-283, 1994.
29. Heyman RA, Mangelsdorf DJ, Dyck JA, Stein RB, Eichele G, Evans RM, Thaller C. 9-cis retinoic acid is a high affinity ligand for the retinoid X receptor. Cell 68:397-406, 1992.
30. Albright F, Butler AM, Bloomber E. Rickets resistant to vitamin D therapy. Am J Dis Child 54:531-547, 1937.
31. Albright F, Burnett C, Smith P, Parson W. Pseudohypoparathyroidism - An example of "Seabright-Bantam syndrome." Endocrinology 30:922-932, 1942.
32. Jameson J. Applications of molecular biology in endocrinology. In: DeGroot LJ, Ed. Endocrinology (3rd ed). Philadelphia: W. B. Saunders, pp119-147, 1994.
33. Refetoff S, DeWind L, DeGroot L. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter, and abnormally high PBI; Possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 27:279-294, 1967.
34. Refetoff S. Resistance to thyroid hormone: An historical overview. Thyroid 4:345-349, 1994.
35. Usala SJ, Tennyson GE, Bale AE, Lash RW, Wondisford FE, McBride OW, Weintraub BD. Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbAβ gene. Mol Endocrinol 2:1217-1220, 1988.
36. Fein HG, Burman KD, Djuh YY, Usala SJ, Bale AE, Weintraub BD, Smallridge RC. Tight linkage of the human c-erbA beta gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds. J Endocrinol Invest 14(3): 219-223, 1991.
37. Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, Seino S, Bell GI, Refetoff S, DeGroot LJ. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor β. Proc Natl Acad Sci USA 86:8977-8981, 1989.
38. Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE, Accili D, Hauser P, Weintraub BD. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. J Clin Invest 85(1):93-100, 1990.
39. Beck-Peccoz P, Chatterjee VKK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD. Nomenclature of thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: Consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, UK. J Clin Endocrinol Metab 78:990-993, 1994.
40. Gershengorn MC, Weintraub BD. Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of "inappropriate secretion of TSH." J Clin Invest 56(3):633-642, 1975.
41. Beck-Peccoz P, Chatterjee VKK. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 4:225-231, 1994.
42. Kaplan MM, Swartz SL, Larsen PR. Partial peripheral resistance to thyroid hormone. Am J Med 70:1115-1121, 1981.
43. Takeda K, Sakurai A, DeGroot LJ, Refetoff S. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. J Clin Endocrinol Metab 74(1):49-55, 1992.
44. Ono S, Schwartz ID, Mueller OT, Root AW, Usala SJ, Bercu BB. Homozygosity for a "dominant negative" thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone. J Clin Endocrinol Metab 73:990-994, 1991.
45. Dumont JE, Maenhaut C, Pirson I, Baptist M, Roger PP. Growth factors controlling the thyroid gland. Baillère's Clin Endocrinol Metab 5:727-754, 1991.
46. Agerbaek H. Congenital goiter presumably resulting from tissue resistance to thyroid hormones. Israel J Med 8:1859-1860, 1973.
47. Kopp P, Kimura ET, Aeschimann S, Oestreicher M, Tobler A, Fey MF, Studer H. Polyclonal and monoclonal thyroid nodules coexist within human multinodular goiters. J Clin Endocrinol Metab 79:134-139, 1994.
48. Hauser P, Zametkin AJ, Martinez P, et al. Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. N Engl J Med 328(14):997-1001, 1993.
49. Weiss RE, Stein MA, Duck SC, et al. Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab 78(6):1525-1528, 1994.
50. Hollingsworth DR. Neonatal hyperthyroidism. In: Delange F, Fisher DA, Malvaux P, Ed. Pediatric Thyroidology. Basel: Karger, Vol 14:pp210-222, 1985.
51. Kopp P, van Sande J, Parma J, Duprez L, Gerber H, Joss E, Jameson JL, Dumont JE, Vassart G. Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med 332:150-154, 1995.
52. Weiss RE, Marcocci C, Bruno-Bossio G, Refetoff S. Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab 76:257-259, 1993.
53. 125I] triiodothyronine to fibroblast nuclei. J Endocrinol Invest 9(6):459-470, 1986.
54. Chatterjee VKK, Nagaya T, Madison LD, Datta S, Rentoumis A, Jameson JL. Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors. J Clin Invest 87:1977-1984, 1991.
55. Meier CA, Dickstein BM, Ashizawa K, McClaskey JH, Muchmore P, Ransom SC, Menke JB, Hao EH, Usala SJ, Bercu BB, Cheng SY, Weintraub BD. Variable transcriptional activity and ligand binding of mutant β1 3,5,5′-triiodothyronine receptors from four families with generalized resistance to thyroid hormone. Mol Endocrinol 6:248-258, 1992.
56. Geffner M, Su F, Ross N, Hershman JM, van Dop C, Menke JB, Hao E, Stanzak RK, Eaton T, Samuels HH. An arginine to histidine mutation in codon 311 of the C-erbAβ gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype. J Clin Invest 91:538-546, 1993.
57. Mixson AJ, Hauser P, Tennyson G, Renault JC, Bodenner DL, Weintraub BD. Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. J Clin Invest 91(5):2296-2300, 1993.
58. Hayashi Y, Janssen OE, Weiss RE, Murata Y, Seo H, Refetoff S. The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products. J Clin Endocrinol Metab 76:64-69, 1993.
59. Klann RC, Torres B, Menke JB, Holbrook CT, Bercu BB, Usala SJ. Competitive polymerase chain reaction quantitation of c-erbA. beta 1, c-erbA alpha 1, and c-erbA alpha 2 messenger ribonucleic acid levels in normal, heterozygous fibroblasts of kindred S with thyroid hormone resistance. J Clin Endocrinol Metab 77:969-975, 1993.
60. Jameson JL, Kay TWH. Glycoprotein hormone pituitary tumors. In: Mazzaferri E, Ed. Advances in Endocrinology and Metabolism. New York: Mosby-Year Book, Vol 2:pp125-147, 1991.
61. Beck-Peccoz P, Piscitelli G, Cattaneo MG, Fagila G. Successful treatment of hyperthyroidism due to nonneoplastic pituitary TSH hypersecretion with 3,5,3′-triiodothyroacetic acid (TRIAC). J Endocrinol Invest 6:217-223, 1983.
62. Salmela PI, Wide L, Juustila H, Ruokonen A. Effects of thyroid hormones (14, T3), bromocriptine and TRIAC on inappropriate TSH hypersecretion. Clin Endocrinol (Oxford) 28:497-507, 1988.
63. Dorey F, Strauch G, Gayno J. Thyrotoxicosis due to pituitary resistance to thyroid hormones. Successful control with D-thyroxine: A study in three patients. Clin Endocrinol (Oxford) 32:221-227, 1990.
64. Schueler PA, Schwartz HL, Strait KA, Mariash CN, Oppenheimer JH. Binding of 3,5,3′-triiodothyronine (T3) and its analogs to the in vitro translational products of c-erbA protooncogenes: differences in the affinity of the α- and β-forms for the acetic acid analog and failure of the human testis and kidney α-2 products to bind T3. Mol Endocrinol 4:227-234, 1990.
65. Takeda T, Suzuki S, Liu RT, DeGroot LJ. Triiodothyroacetic acid (Triac) has unique potential for therapy of resistance to thyroid hormone. J Clin Endocrinol Metab 80(7):2033-2040, 1995.
66. Collingwood TN, Adams M, Tone Y, Chatterjee VK. Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone beta-receptors in thyroid hormone resistance syndrome. Mol Endocrinol 8(9): 1262-1277, 1994.
67. Matthews C, Collingwood TN, Adams M, Rajanayagam O, Chatterjee VKK. Novel mutations in the hinge domain of the thyroid hormone β receptor and a transactivation mutant in thyroid hormone resistance syndrome. 77th annual meeting of the Endocrine Society, Washington, DC. Abstract P3-437:578, 1995.
68. Behr M, Loos U. A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance. Mol Endocrinol 6(7):1119-1126, 1992.
69. Weiss RE, Weinberg M, Refetoff S. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. J Clin Invest 91(6): 2408-2415, 1993.
70. Herskowitz I. Functional inactivation of genes by dominant negative mutations. Nature 329:219-222, 1987.
71. Sakurai A, Miyamoto T, Regetoff S, DeGroot LJ. Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. Mol Endocrinol 4(12):1988-1994, 1990.
72. Jameson JL. Thyroid hormone resistance: Pathophysiology at the molecular level. J Clin Endocrinol Metab 74(4):708-711, 1992.
73. Nagaya T, Madison LD, Jameson JL. Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes. J Biol Chem 267(18):13014-13019, 1992.