Germline and somatic thyroid hormone receptor mutations in man (original) (raw)

• McKenna NJ, Lanz RB, O’Malley BW. Nuclear receptor coregulators: cellular and molecular biology. Endocr Rev 1999, 20: 321–44.
  PubMed CAS Google Scholar
• Yen PM. Physiological and molecular basis of thyroid hormone action. Physiol Rev 2001, 81: 1097–142.
  PubMed CAS Google Scholar
• Zhang J, Lazar MA. The mechanism of action of thyroid hormones. Annu Rev Physiol 2000, 62: 439–66.
  Article PubMed CAS Google Scholar
• Cheng SY. Multiple mechanisms for regulation of the transcriptional activity of thyroid hormone receptors. Rev Endocr Metab Disord 2000, 1: 9–18.
  Article PubMed CAS Google Scholar
• Wood WM, Dowding JM, Haugen BR, Bright TM, Gordon DF, Ridgway EC. Structural and functional characterization of the genomic locus encoding the murine gB 2 thyroid hormone receptor. Mol Endocrinol 1994, 8: 1605–17.
  PubMed CAS Google Scholar
• Bradley DJ, Towle HC, Young WS. Spatial and temporal expression of a- and gB-thyroid hormone receptor mRNAs, including the gB2-subtype, in the developing mammalian system. J Neurosci 1992, 12: 2288–302.
  PubMed CAS Google Scholar
• Feng X, Jiang Y, Meltzer P, Yen PM. Thyroid hormone regulation of hepatic genes in vivo detected by complementary DNA microarray. Mol Endocrinol 2000, 14: 947–55.
  Article PubMed CAS Google Scholar
• Williams GR, Brent GA. Thyroid hormone response elements. In: B. Weintraub ed. Molecular Endocrinology: Basic concepts and clinical correlations. New York: Raven Press 1995, 217–39.
  Google Scholar
• Glass CK Differential recognition of target genes by nuclear receptor monomers, dimers and heterodimers. Endo Rev 199415: 391–407.
  CAS Google Scholar
• Brent GA, Dunn MK, Harney JW, Gulick T, Larsen PR, Moore DD. Thyroid hormone aporeceptor represses T3- inducible promoters and blocks activity of the retinoic acid receptor. New Biologist 1989, 1: 329–36.
  PubMed CAS Google Scholar
• Torchia J, Glass C, Rosenfeld MG. Co-activators and co-repressors in the integration of transcriptional responses. Curr Opin Cell Biol 1998, 10: 373–83.
  Article PubMed CAS Google Scholar
• Ito M, Roeder RG. The TRAP/SMCC/Mediator complex and thyroid hormone receptor function. Trends Endocrinol Metab 2001, 12: 127–34.
  Article PubMed CAS Google Scholar
• Rachez C, Freedman LP. Mediator complexes and transcription. Curr Opin Cell Biol 2001, 13: 274–80.
  Article PubMed CAS Google Scholar
• Sharma D, Fondell JD. Ordered recruitment of histone acetyltransferases and the TRAP/Mediator complex to thyroid hormone-responsive promoters in vivo. Proc Natl Acad Sci U S A 2002, 99: 7934–9.
  Article PubMed Central PubMed CAS Google Scholar
• Shang Y, Hu X, DiRenzo J, Lazar MA, Brown M. Cofactor dynamics and sufficiency in estrogen receptor-regulated transcription. Cell 2000, 103: 843–52.
  Article PubMed CAS Google Scholar
• DiRenzo J, Shang Y, Phelan M, et al. BRG-1 is recruited to estrogen-responsive promoters and cooperates with factors involved in histone acetylation. Mol Cell Biol. 2000, 20: 7541–49.
  Article PubMed Central PubMed CAS Google Scholar
• Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 1967, 27: 279–94.
  Article PubMed CAS Google Scholar
• Refetoff S, Weiss RA, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev 1993, 14: 348–99.
  PubMed CAS Google Scholar
• Brucker-Davis F, Skarulis MC, Grace MB, et al. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study. Ann Intern Med 1995, 123: 572–83.
  Article PubMed CAS Google Scholar
• Adams M, Mathews C, Collingwood TN, Tone Y, Beck- Peccoz P, Chatterjee VK. Genetic analyses of 29 kindreds with generalized and pituitary resistance to thyroid hormone: Identification of thirteen novel mutations in the thyroid hormone receptor gB gene. J Clin Invest 1994, 904: 506–15.
  Article Google Scholar
• Beck-Peccoz P, Chatterjee VK. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 1994, 4: 225–32.
  Article PubMed CAS Google Scholar
• Weiss RE, Refetoff S. Resistance to thyroid hormone. Rev Endocr Metab Disord 2000, 1: 97–108.
  Article PubMed CAS Google Scholar
• Wagner RL, Apriletti JW, McGrath ME, West BL, Baxter JD, Fletterick RJ. A structural role for hormone in the thyroid hormone receptor. Nature 1995, 378: 690–7.
  Article PubMed CAS Google Scholar
• Yen PM, Chin WW. Molecular mechanisms of dominant negative activity by nuclear hormone receptors. Mol Endocrinol 1994, 8: 1450–4.
  PubMed CAS Google Scholar
• 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 1992, 27: 13014–9.
  Google Scholar
• Yen PM, Sugawara A, Refetoff S, Chin WW. New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone. J Clin Invest 1992, 90: 1825–31.
  Article PubMed Central PubMed CAS Google Scholar
• Damm K, Thompson CC, Evans RM. Protein encoded by verbA functions as a thyroid-hormone receptor antagonist. Nature 1989, 339: 593–7.
  Article PubMed CAS Google Scholar
• Nagaya T, Jameson JL. Thyroid hormone receptor dimerization is required for dominant negative inhibition by mutations that cause thyroid hormone resistance. J Biol Chem 1993, 268: 15766–71.
  PubMed CAS Google Scholar
• Hayashi Y, Weiss RE, Sarne DH, et al. Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-gB receptors?J Clin Endocrinol Metab 1995, 80: 3246–56.
  Article PubMed CAS Google Scholar
• Collingwood TN, Adams N, Chatterjee VK. Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone gB-receptors in thyroid hormone resistance syndrome. Mol Endocrinol 1994, 8: 1261–77.
  Google Scholar
• Yoh SM, Chatterjee VK, Privalsky ML. Thyroid hormone resistance manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors. Mol Endocrinol 1997, 11: 470–80.
  Article PubMed Central PubMed CAS Google Scholar
• Liu Y, Takeshita A, Misiti S, Chin WW, Yen PM. Lack of coactivator interaction can be a mechanism for dominant negative activity by mutant thyroid hormone receptors. Endocrinology 1998, 139: 4197–204.
  PubMed CAS Google Scholar
• Collingwood TN, Wagner R, Matthews CH, et al. A role for helix 3 of the TRgB ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. Embo J 1998, 17: 4760–70.
  Article PubMed Central PubMed CAS Google Scholar
• Weiss RE, Hayashi Y, Nagaya T, et al. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor a or gB genes may be due to a defective co-activator. J Clin Endocrinol and Metab 1996, 81: 4196–203.
  CAS Google Scholar
• Pohlenz J, Weiss RE, Macchia PE, et al. Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab 1999, 84: 3919–28.
  PubMed CAS Google Scholar
• Parikh S, Ando S, Schneider A, Skarulis MC, Sarlis NJ, Yen PM. Resistance to thyroid hormone in a patient without thyroid hormone receptor mutations. Thyroid 2002, 12: 81–6.
  Article PubMed CAS Google Scholar
• Weiss RE, Xu J, Ning G, Pohlenz J, O’Malley BW, Refetoff S. Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone. Embo J 199918: 1900–4.
  Article PubMed Central PubMed CAS Google Scholar
• Reutrakul S, Sadow PM, Pannain S, et al. Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor gB or a genes. J Clin Endocrinol Metab 2000, 85: 3609–17.
  PubMed CAS Google Scholar
• Petrij F, Giles RH, Dauwerse HG, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional coactivator CBP [see comments]. Nature 1995, 376: 348–51.
  Article PubMed CAS Google Scholar
• Olson DP, Koenig RJ. Thyroid function in Rubinstein-Taybi syndrome. J Clin Endocrinol Metab 1997, 82: 3264–6.
  PubMed CAS Google Scholar
• Ando S, Sarlis NJ, Oldfield EH, Yen PM. Somatic mutation of TRgB can cause a defect in negative regulation of TSH in a TSH-secreting pituitary tumor. J Clin Endocrinol Metab 2001, 86: 5572–6.
  PubMed CAS Google Scholar
• Ando S, Sarlis NJ, Krishnan J, et al. Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Mol Endocrinol 15: 1529–38.
• Karl M, Von Wichert G, Kempter E, et al. Nelson’s syndrome associated with a somatic frame shift mutation in the glucocorticoid receptor gene. J Clin Endocrinol Metab 1996, 81: 124–9.
  PubMed CAS Google Scholar
• McCabe CJ, Gittoes NJ, Sheppard MC, Franklyn JA. Thyroid receptor a1 and a2 mutations in nonfunctioning pituitary tumors. J Clin Endocrinol Metab 1999, 84: 649–53.
  PubMed CAS Google Scholar
• Gittoes NJ, McCabe CJ, Verhaeg J, Sheppard MC, Franklyn JA. An abnormality of thyroid hormone receptor expression may explain abnormal thyrotropin production in thyrotropin-secreting pituitary tumors. Thyroid 1998, 8: 9–14.
  Article PubMed CAS Google Scholar
• Gurnell M, Rajanayagam O, Barbar I, JonesMK, Chatterjee VK. Reversible pituitary enlargement in the syndrome of resistance to thyroid hormone. Thyroid 1998, 8: 679–82.
  Article PubMed CAS Google Scholar
• Barlow C, Meister B, Lardelli M, Lendahl U, Vennstrom B. Thyroid abnormalities and hepatocellular carcinoma in mice transgenic for v-erbA. Embo J 1994, 13: 4241–50.
  PubMed Central PubMed CAS Google Scholar
• Lin KH, Zhu XG, Shieh HY, et al. Identification of naturally occurring dominant negative mutants of thyroid hormone a1 and gB1 receptors in a human hepatocellular carcinoma cell lines. Endocrinology 1996, 137: 4073–81.
  PubMed CAS Google Scholar
• Lin KH, Zhu XG, Hsu HC, et al. Dominant negative activity of mutant thyroid hormone a1 receptors from patients with hepatocellular carcinoma. Endocrinology 1997, 138: 5308–15.
  PubMed CAS Google Scholar
• Lin KH, Shieh HY, Chen SL, Hsu HC. Expression of mutant thyroid hormone nuclear receptors in human hepatocellular carcinoma cells. Mol Carcinog 1999, 1: 53–61.
  Article Google Scholar
• Puzianowska-Kuznicka M, Krystyniak A, Madej A, Cheng SY, Nauman J. Functionally impaired TR mutants are present in thyroid papillary cancer. J Clin Endocrinol Metab 2002, 87: 1120–8.
  Article PubMed CAS Google Scholar
• Kamiya Y, Puzianowska-Kuznicka M, McPhie P, Nauman J, Cheng SY, Nauman A. Expression of mutant thyroid hormone nuclear receptors is associated with human renal clear cell carcinoma. Carcinogenesis 2002, 23: 25–33.
  Article PubMed CAS Google Scholar
• Suzuki H, Willingham MC, Cheng SY. Mice with a mutation in the thyroid hormone receptor gB gene spontaneously develop thyroid carcinoma: a mouse model of thyroid carcinogenesis. Thyroid 2002, 12: 963–9.
  Article PubMed CAS Google Scholar
• Taplin ME, Bubley GJ, Shuster TD, et al. Mutation of the androgen- receptor gene in metastatic androgen-independent prostate cancer. N Engl J Med 1995, 332: 1393–8.
  Article PubMed CAS Google Scholar
• Zhang QX, Hilsenbeck SG, Fuqua SA, Borg A. Multiple splicing variants of the estrogen receptor are present in individual human breast tumors. J Steroid Biochem Mol Biol 1996, 59: 251–60.
  Article PubMed CAS Google Scholar
• Fuqua SA, Wiltschke C, Zhang QX, et al. A hypersensitive estrogen receptor-a mutation in premalignant breast lesions. Cancer Res 2000, 60: 4026–9.
  PubMed CAS Google Scholar
• Hu C, Hyder SM, Needleman DS, Baker VV. Expression of estrogen receptor variants in normal and neoplastic human uterus. Mol Cell Endocrinol 1996, 118: 173–9.
  Article PubMed CAS Google Scholar
• Anderson TI, Wooster R, Laake K, et al. Screening for ESR mutations in breast and ovarian cancer patients. Hum Mutat 1997, 9: 531–6.
  Article PubMed CAS Google Scholar
• Sarraf P, Mueller E, Smith WM, et al. Loss-of-function mutations in PPAR ? associated with human colon cancer. Mol Cell 1999, 3: 799–804.
  Article PubMed CAS Google Scholar
• Hillmann AG, Ramdas J, Multanen K, Norman MR, Harmon JM. Glucocorticoid receptor gene mutations in leukemic cells acquired in vitro and in vivo. Cancer Res. 2000, 60: 2056–62.
  PubMed CAS Google Scholar