Three novel mutations at Serine 314 in the thyroid hormone β receptor differentially impair ligand binding in the syndrome of resistance to thyroid hormone

Endocrinology

Volumn 140, Issue 12, 1999, Pages 5901-5906

  Gurnell, M ^a   Rajanayagam, O ^a   Agostini, M ^a,b   Clifton Bligh, R J D ^a   Wang, T ^c   Zelissen, P M J ^d   Van Der Horst, F ^e   Van De Wiel, A ^e   Macchia, E ^b   Pinchera, A ^b   Schwabe, J W R ^f   Chatterjee, V K K ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF PISA   (Italy)

^c LEICESTER ROYAL INFIRMARY   (United Kingdom)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e EEMLAND HOSPITAL   (Netherlands)

^f MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

SERINE; THYROID HORMONE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CRYSTAL STRUCTURE; DIMERIZATION; FEMALE; GENE MUTATION; HORMONE RESISTANCE; HUMAN; LIGAND BINDING; MALE; NEGATIVE FEEDBACK; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DOMAIN; RECEPTOR AFFINITY; REPORTER GENE; TRANSCRIPTION REGULATION;

EID: 0033304696     PISSN: 00137227     EISSN: None     Source Type: Journal    
DOI: 10.1210/endo.140.12.7203     Document Type: Article

References (22)

1. Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA β gene
2. The syndromes of resistance to thyroid hormone
3. The variable clinical phenotype in thyroid hormone resistance syndrome
4. Dominant negative transcriptional regulation by a mutant thyroid hormone receptor β in a family with generalised resistance to thyroid hormone
5. Thyroid hormone resistance syndrome: Inhibition of normal receptor function by mutant thyroid hormone receptors
6. Spectrum of transcriptional, dimerization and dominant negative properties of twenty different mutant thyroid hormone β-receptors in thyroid hormone resistance syndrome
7. Thyroid hormone receptor mutants that cause resistance to thyroid hormone: Evidence for receptor competition for DNA sequences in target genes
8. Thyroid hormone receptor dimerization is required for dominant negative inhibition by mutations that cause thyroid hormone resistance
9. A novel TRβ mutation (R383H) in resistance to thyroid hormone predominantly impairs corepressor release and negative transcriptional regulation
10. Genetic analysis of 29 kindreds With generalized and pituitary resistance to thyroid hormone
11. 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
12. 3-receptor homodimers but not receptor auxiliary protein heterodimers
13. Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone β receptors?
14. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosineguanine-rich areas of the thyroid hormone receptor beta gene
15. 3 response element-dependent dominant negative potency
16. Variable transcriptional activity and ligand binding of mutant β1 3,5,3'-triiodothyronine receptors from four families with generalised resistance to thyroid hormone
17. Thyroid hormone receptor homodimers can function as ligand-sensitive repressors
18. Studies on the repression of basal transcription (silencing) by artificial and natural human thyroid hormone receptor-β mutants
19. Dominant negative and DNA-binding properties of mutant thyroid hormone receptors that are defective in homodimerization but not heterodimerization
20. Hormone-dependent coactivator binding to a hydrophobic cleft on nuclear receptors
21. Three novel mutations of thyroid hormone receptor β gene in unrelated patients with resistance to thyroid hormone: Two mutations of the same codon (H435L and H435Q) produce separate subtypes of resistance
22. Structural analysis of human thyroid hormone receptor β gene