An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone

Journal of Translational Medicine

Volumn 9, Issue 1, 2011, Pages

  Alberobello, Anna T ^a   Congedo, Valentina ^a,b   Liu, Hong ^a   Cochran, Craig ^a   Skarulis, Monica C ^a   Forrest, Douglas ^a   Celi, Francesco S ^a  

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

^b University G D   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

THYROID HORMONE RECEPTOR BETA; THYROID HORMONE RECEPTOR BETA2; UNCLASSIFIED DRUG; MUTANT PROTEIN; THYROID HORMONE;

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENHANCER REGION; EXON; FEMALE; GENE; GENE EXPRESSION; GENETIC SCREENING; HUMAN; IN VITRO STUDY; INTRON; MISSENSE MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM; THRB GENE; THYROID HORMONE RESISTANCE; ANTIBODY SPECIFICITY; CASE REPORT; CHILD; GENETIC PREDISPOSITION; GENETIC TRANSCRIPTION; GENETICS; HAPLOTYPE; HYPOPHYSIS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; REPORTER GENE; UPREGULATION;

ADULT; CHILD; ENHANCER ELEMENTS, GENETIC; EXONS; FEMALE; GENES, REPORTER; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INTRONS; MIDDLE AGED; MUTANT PROTEINS; MUTATION; ORGAN SPECIFICITY; PITUITARY GLAND; POLYMORPHISM, SINGLE NUCLEOTIDE; THYROID HORMONE RECEPTORS BETA; THYROID HORMONE RESISTANCE SYNDROME; THYROID HORMONES; TRANSCRIPTION, GENETIC; UP-REGULATION;

EID: 80052025030     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/1479-5876-9-144     Document Type: Article

References (24)

1. Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 1967, 27:279-294. 10.1210/jcem-27-2-279, 4163616.
2. 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 beta. Proc Natl Acad Sci USA 1989, 86:8977-8981. 10.1073/pnas.86.22.8977, 298414, 2510172.
3. Chatterjee VK. Resistance to thyroid hormone--an uncommon cause of thyroxine excess and inappropriate TSH secretion. Acta Med Austriaca 1994, 21:56-60.
4. Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev 1993, 14:348-399.
5. Weiss RE, Marcocci C, Bruno-Bossio G, Refetoff S. Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab 1993, 76:257-259. 10.1210/jc.76.1.257, 8421095.
6. 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 1975, 56:633-642. 10.1172/JCI108133, 301911, 1159077.
7. 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 1994, 94:506-515. 10.1172/JCI117362, 296123, 8040303.
8. Brucker-Davis F, Skarulis MC, Grace MB, Benichou J, Hauser P, Wiggs E, Weintraub BD. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study. Ann Intern Med 1995, 123:572-583.
9. Hodin RA, Lazar MA, Wintman BI, Darling DS, Koenig RJ, Larsen PR, Moore DD, Chin WW. Identification of a thyroid hormone receptor that is pituitary-specific. Science 1989, 244:76-79. 10.1126/science.2539642, 2539642.
10. Jones I, Ng L, Liu H, Forrest D. An intron control region differentially regulates expression of thyroid hormone receptor beta2 in the cochlea, pituitary, and cone photoreceptors. Mol Endocrinol 2007, 21:1108-1119. 10.1210/me.2007-0037, 17341594.
11. Harris JA, Benedict FG. A Biometric Study of Basal Metabolism in Man 1919, Washington, DC: Carnegie Institute of Washington.
12. Wood WM, Dowding JM, Bright TM, McDermott MT, Haugen BR, Gordon DF, Ridgway EC. Thyroid hormone receptor beta2 promoter activity in pituitary cells is regulated by Pit-1. J Biol Chem 1996, 271:24213-24220. 10.1074/jbc.271.39.24213, 8798664.
13. Sasaki S, Nakamura H, Tagami T, Miyoshi Y, Nogimori T, Mitsuma T, Imura H. Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-beta. J Clin Endocrinol Metab 1993, 76:1254-1258. 10.1210/jc.76.5.1254, 8496318.
14. Beck-Peccoz P, Chatterjee VK. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 1994, 4:225-232. 10.1089/thy.1994.4.225, 7920008.
15. Sasaki S, Nakamura H, Tagami T, Miyoshi Y, Nakao K. Functional properties of a mutant T3 receptor beta (R338W) identified in a subject with pituitary resistance to thyroid hormone. Mol Cell Endocrinol 1995, 113:109-117. 10.1016/0303-7207(95)03621-D, 8674808.
16. Safer JD, Langlois MF, Cohen R, Monden T, John-Hope D, Madura J, Hollenberg AN, Wondisford FE. Isoform variable action among thyroid hormone receptor mutants provides insight into pituitary resistance to thyroid hormone. Mol Endocrinol 1997, 11:16-26. 10.1210/me.11.1.16, 8994184.
17. Machado DS, Sabet A, Santiago LA, Sidhaye AR, Chiamolera MI, Ortiga-Carvalho TM, Wondisford FE. A thyroid hormone receptor mutation that dissociates thyroid hormone regulation of gene expression in vivo. Proc Natl Acad Sci USA 2009, 106:9441-9446. 10.1073/pnas.0903227106, 2695112, 19439650.
18. Epstein DJ. Cis-regulatory mutations in human disease. Brief Funct Genomic Proteomic 2009, 8:310-316. 10.1093/bfgp/elp021, 2742803, 19641089.
19. Visel A, Rubin EM, Pennacchio LA. Genomic views of distant-acting enhancers. Nature 2009, 461:199-205. 10.1038/nature08451, 2923221, 19741700.
20. Segal J, Troen BR, Ingbar SH. Influence of age and sex on the concentrations of thyroid hormone in serum in the rat. J Endocrinol 1982, 93:177-181. 10.1677/joe.0.0930177, 7086320.
21. Bianco AC, Salvatore D, Gereben B, Berry MJ, Larsen PR. Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases. Endocr Rev 2002, 23:38-89. 10.1210/er.23.1.38, 11844744.
22. Mann V, Hobson EE, Li B, Stewart TL, Grant SF, Robins SP, Aspden RM, Ralston SH. A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 2001, 107:899-907. 10.1172/JCI10347, 199568, 11285309.
23. Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chakravarti A. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 2005, 434:857-863. 10.1038/nature03467, 15829955.
24. Frankton S, Harvey CB, Gleason LM, Fadel A, Williams GR. Multiple messenger ribonucleic acid variants regulate cell-specific expression of human thyroid hormone receptor beta1. Mol Endocrinol 2004, 18:1631-1642. 10.1210/me.2003-0346, 15105435.