A novel point mutation in cluster 3 of the thyroid hormone receptor β gene (P247L) causing mild resistance to thyroid hormone

Thyroid

Volumn 9, Issue 12, 1999, Pages 1195-1203

  Pohlenz, Joachim ^a   Manders, Laura ^a   Sadow, Peter M ^a   Kansal, Prakash C ^b   Refetoff, Samuel ^a   Weiss, Roy E ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b Heart and Endocrine Clinic   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

THYROID HORMONE; THYROID HORMONE RECEPTOR;

ADULT; ARTICLE; BASAL METABOLIC RATE; CASE REPORT; FEMALE; GENE SEQUENCE; HORMONE RESPONSE; HUMAN; MULTIGENE FAMILY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; THYROID FUNCTION; THYROID HORMONE RESISTANCE; TRANSACTIVATION;

EID: 0033399252     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.1999.9.1195     Document Type: Article

References (34)

1. Refetoff S, Weiss RE 1997 Resistance to thyroid hormone. In: Thakker TV (eds) Molecular Genetics of Endocrine Disorders. Chapman & Hill, London, p 85-122.
2. Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, Tunca H, Seo H, Refetoff S 1996 Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptors α or β genes may be due to a defective cofactor. J Clin Endocrinol Metab 81:4196-4203.
3. Pohlenz J, Weiss RE, Macchia PE, Pannain S, Lau IT, Ho H, Refetoff S 1999 Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor β gene. J Clin Endocrinol Metab in press.
4. Weiss RE, Weinberg M, Refetoff S 1993 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 91:2408-2415.
5. 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.
6. Sakurai A, Miyamoto T, Refetoff S, DeGroot LJ 1990 Dominant negative transcriptional regulation by a mutant thyroid hormone receptor β in a family with generalized resistance to thyroid hormone. Mol Endocrinol 4:1988-1994.
7. Nagaya T, Eberhardt NL, Jameson JL 1993 Thyroid hormone resistance syndrome: Correlation of dominant negative activity and location of mutations. J Clin Endocrinol Metab 77:982-990.
8. Nagaya T, Jameson JL 1993 Thyroid hormone receptor dimerization is required for the dominant negative inhibition by mutations that cause thyroid hormone resistance. J Biol Chem 268:15766-15771.
9. 1-receptors: the important role of the wild-type/mutant receptor heterodimer. Endocrinology 137:712-721.
10. Nagaya T, Fujieda N, Seo H 1998 Requirement of corepressor binding of thyroid hormone receptor mutants for dominant negative inhibition. Biochem Biophys Res Commun 247:620-623.
11. Collingwood TN, Wagner R, Matthews CH, Clifton-Bligh RJ, Gurnell M, Rajanayagan O, Agostini M, Fletterick RJ, Beck-Pecoz P, Reinhardt W, Binder G, Ranke MB, Hermus A, Hesch RD, Lazarus J, Newrick P, Parfitt V, Raggatt P, de Zeglier F, Chatterjee VK 1998 A role for helix 3 of the TRβ ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. EMBO J 16:4760-4770.
12. Yagi H, Pohlenz J, Hayashi Y, Sakurai A, Refetoff S 1997 Resistance to thyroid hormone caused by two mutant thyroid hormone receptor β, R243Q and R243W, with marked impairment of function that cannot be explained by altered in-vitro 3,5,3′-triiodothyronine binding affinity. J Clin Endocrinol Metab 82:1608-1614.
13. 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.
14. 3 receptor and transcriptional corepressor. Mol Endocrinol 11:470-480.
15. Liu Y, Takeshita A, Misiti S, Chin WW, Yen PM 1998 Lack of coactivator interaction can be a mechanism for dominant negative activity by mutant thyroid hormone receptors. Endocrinology 139:4197-4204.
16. Tagami T, Gu W-X, West B, Jameson JL 1998 A novel natural mutation in TRβ that has strong interaction with nuclear corepressors and impaired interaction with coactivators [abstract]. The Endocrine Society 80th Annual Meeting. June 24-27, New Orleans, LA.
17. Refetoff S, Weiss RE, Usala SJ 1993 The syndromes of resistance to thyroid hormone. Endocr Rev 14:348-399.
18. Schoeller DA, Shay K, Kushner RF 1997 How much physical activity is needed to minimize weight gain in previously obese women? Am J Clin Nutr 66:551-556.
19. Moll GW, Rosenfield RL, Helke JH 1981 Estradiol-testosterone binding interactions and free plasma estradiol under physiological conditions. J Clin Endocrinol Metab 52:868-874.
20. Bell GI, Karam JH, Rutter WJ 1981 Polymorphic DNA region adjacent to the 5′ end of the human insulin gene. Proc Natl Acad Sci USA 78:5759-5763.
21. 3)-binding domain of the thyroid hormone receptor (TR) β gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone. J Clin Invest 94:607-615.
22. Smith TJ, Murata Y, Horwitz AL, Philipson L, Refetoff S 1982 Regulation of glycosaminoglycan accumulation by thyroid hormone in vitro. J Clin Invest 70:1066-1073.
23. Inoue A, Yamakawa J, Yukioka M, Morisawa S 1983 Filter-binding assay procedure for thyroid hormone receptors. Anal Biochem 134:176-183.
24. 229 to Thr) in the hinge domain of the c-erbAβ thyroid hormone receptor in a family with generalized thyroid hormone resistance. Mol Endocrinol 6:1119-1126.
25. 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-erbAβ thyroid hormone receptor gene in a family with resistance to thyroid hormone. Thyroid 5:355-358.
26. Pohlenz J, Schönberger W, Wemme H, Winterpacht A, Wirth S, Zabel B 1996 New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone. Hum Mutation 7:79-81.
27. Collingwood TN, Adams M, Tone Y, Chatterjee VKK 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.
28. Yen PM, Chinn WW 1994 Molecular menchanisms of dominant negative activity by nuclear hormone receptors. Mol Endocrinol 8:1450-1454.
29. Announcement 1994 A registry for resistance to thyroid hormone. Mol Endocrinol 8:1558.
30. Stein MA, Weiss RE, Refetoff S 1995 Neurocognitive characteristics of individuals with resistance to thyroid hormone: Comparisons to individuals with attention deficit hyperactivity disorder only. J Develop Behav Pediatr 16:406-411.
31. Brucker-Davis F, Skarulis MC, Grace MB, Benichou J, Hauser P, Wiggs E, Weintraub B 1995 Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health prospective study. Ann Intern Med 123:573-583.
32. Duval F, Mokrani MC, Crocq MA, Jautz M, Bailey P, Diep TS, Macher JP 1996 Effect of antidepressant medication on morning and evening thyroid function tests during a major depressive episode. Arch Gen Psychiatry 53:833-840.
33. Robinson DB, Michaelis RD, Shakir KMM 1993 Autoimmune hypothyroidism in a patient with generalized resistance to thyroid hormone. South Med J 86:1395-1397.
34. Reinhardt W, Jockenhovel F, Deuble J, Chatterjee VK, Reinwein D, Mann K 1997 [Thyroid hormone resistance: variable clinical manifestations in five patients.] Nuklearmedizin 36:250-255.