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Thyroid hormone receptor beta

The THRB gene encodes the beta subunit of the nuclear hormone receptor for triiodothyronine. Mutations cause thyroid hormone resistance that can be inherited in an autosomal dominant or recessive manner. Some mutations cause a pituitary form only.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Thyroid hormone resistance, selective pituitary
THRB
Thyroid hormone resistance, generalized, autosomal recessive
THRB
Thyroid hormone resistance, generalized, autosomal dominant
THRA
THRB

References:

1.

Sakurai A et al. (1990) Structural analysis of human thyroid hormone receptor beta gene.

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2.

None (1988) The steroid and thyroid hormone receptor superfamily.

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3.

Middleton PG et al. (1986) RFLP for the human erbA2 gene.

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4.

Dobrovic A et al. (1988) erbA-related sequence coding for DNA-binding hormone receptor localized to chromosome 3p21-3p25 and deleted in small cell lung carcinoma.

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5.

Weinberger C et al. () The c-erb-A gene encodes a thyroid hormone receptor.

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6.

Sap J et al. () The c-erb-A protein is a high-affinity receptor for thyroid hormone.

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7.

Drabkin H et al. (1988) Localization of human ERBA2 to the 3p22----3p24.1 region of chromosome 3 and variable deletion in small cell lung cancer.

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8.

Albertson DG et al. (1989) Localization of polymorphic DNA probes frequently deleted in lung carcinoma.

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9.

Lazar MA et al. (1990) Nuclear thyroid hormone receptors.

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10.

Forman BM et al. (1990) Interactions among a subfamily of nuclear hormone receptors: the regulatory zipper model.

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11.

Gosden JR et al. (1986) Chromosomal localization of the human oncogene ERBA2.

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12.

Ying H et al. (2006) Aberrant accumulation of PTTG1 induced by a mutated thyroid hormone beta receptor inhibits mitotic progression.

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13.

Ono S et al. (1991) Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone.

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14.

Boothroyd CV et al. (1991) Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis.

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15.

Douglas JB et al. (1991) A pulsed-field gel electrophoresis map locates the polymorphic probes for ERBA2 and ErbA beta within 120 kb of each other, confirming that THRB (formerly ERBA2) maps to chromosome 3.

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16.

Parrilla R et al. (1991) Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain.

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17.

Usala SJ et al. (1991) A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor.

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18.

Wu SY et al. (2006) A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone.

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19.

Araki O et al. (2005) Thyroid hormone receptor beta mutants: Dominant negative regulators of peroxisome proliferator-activated receptor gamma action.

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20.

Shuto Y et al. (1992) A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone.

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21.

Pohlenz J et al. (1996) New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.

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22.

Rüsch A et al. (1998) Thyroid hormone receptor beta-dependent expression of a potassium conductance in inner hair cells at the onset of hearing.

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23.

Kros CJ et al. (1998) Expression of a potassium current in inner hair cells during development of hearing in mice.

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24.

Clifton-Bligh RJ et al. (1998) A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation.

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25.

Yagi H et al. (1997) Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity.

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26.

Behr M et al. (1997) Deoxyribonucleic acid binding and transcriptional silencing by a truncated c-erbA beta 1 thyroid hormone receptor identified in a severely retarded patient with resistance to thyroid hormone.

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27.

Katz LC et al. (1996) Synaptic activity and the construction of cortical circuits.

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28.

Seto D et al. (1996) Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations.

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29.

Weiss RE et al. (1996) A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH).

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30.

Forrest D et al. (1996) Thyroid hormone receptor beta is essential for development of auditory function.

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31.

Thompson CC et al. (1987) Identification of a novel thyroid hormone receptor expressed in the mammalian central nervous system.

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32.

Onigata K et al. (1995) A novel point mutation (R243Q) in exon 7 of the c-erbA beta thyroid hormone receptor gene in a family with resistance to thyroid hormone.

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33.

Weiss RE et al. (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.

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34.

Weiss RE et al. (1994) A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.

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35.

Hayashi Y et al. (1994) Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta 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.

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36.

Beck-Peccoz P et al. (1994) Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK.

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37.

Pohlenz J et al. (1995) Phenotypic variability in patients with generalised resistance to thyroid hormone.

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38.

Cooper DS et al. (1982) Familial thyroid hormone resistance.

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39.

Refetoff S et al. (1967) Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.

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40.

Rider SH et al. (1987) Localization of the oncogene c-erbA2 to human chromosome 3.

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41.

Mamanasiri S et al. (2006) Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.

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42.

Mixson AJ et al. (1993) Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone.

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43.

Geffner ME et al. (1993) An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.

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44.

Adams M et al. (1994) 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.

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45.

Gershengorn MC et al. (1975) Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of "inappropriate secretion of TSH".

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46.

Magner JA et al. (1986) Familial generalized resistance to thyroid hormones: report of three kindreds and correlation of patterns of affected tissues with the binding of [125I] triiodothyronine to fibroblast nuclei.

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47.

Sakurai A et al. (1989) Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.

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48.

Usala SJ et al. (1990) 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.

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49.

Takeda K et al. (1991) Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.

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50.

Usala SJ et al. (1991) A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.

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51.

Tory K et al. (1992) A genetic linkage map of 96 loci on the short arm of human chromosome 3.

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52.

Puzianowska-Kuznicka M et al. (2002) Functionally impaired TR mutants are present in thyroid papillary cancer.

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53.

Kaneshige M et al. (2001) A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice.

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54.

Ng L et al. (2001) Suppression of the deafness and thyroid dysfunction in Thrb-null mice by an independent mutation in the Thra thyroid hormone receptor alpha gene.

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55.

Gullberg H et al. (2000) Thyroid hormone receptor beta-deficient mice show complete loss of the normal cholesterol 7alpha-hydroxylase (CYP7A) response to thyroid hormone but display enhanced resistance to dietary cholesterol.

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56.

Iskaros J et al. (2000) Thyroid hormone receptor gene expression in first trimester human fetal brain.

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57.

Nagaya T et al. (1996) Heterodimerization preferences of thyroid hormone receptor alpha isoforms.

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58.

Spurr NK et al. (1984) Chromosomal localisation of the human homologues to the oncogenes erbA and B.

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59.

Jansson M et al. (1983) Isolation and characterization of multiple human genes homologous to the oncogenes of avian erythroblastosis virus.

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60.

Refetoff S et al. (1972) Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone.

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61.

Asteria C et al. (1999) Prenatal diagnosis of thyroid hormone resistance.

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62.

Nagaya T et al. (1992) Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes.

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63.

Sasaki S et al. (1992) A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone.

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64.

Adams M et al. (1992) Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome.

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65.

Takeda K et al. (1992) Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance.

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66.

Yen PM et al. (1992) New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone.

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67.

Dulgeroff AJ et al. (1992) Bromocriptine and Triac therapy for hyperthyroidism due to pituitary resistance to thyroid hormone.

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68.

Mixson AJ et al. (1992) Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations.

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69.

Behr M et al. (1992) 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.

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70.

Cugini CD et al. (1992) An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.

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71.

Phillips SA et al. (2001) Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant.

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72.

Ando S et al. (2001) Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance.

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73.

Yang Z et al. (2001) Isoform-specific transcriptional regulation by thyroid hormone receptors: hormone-independent activation operates through a steroid receptor mode of co-activator interaction.

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74.

Hashimoto K et al. (2001) An unliganded thyroid hormone receptor causes severe neurological dysfunction.

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75.

Ng L et al. (2001) A thyroid hormone receptor that is required for the development of green cone photoreceptors.

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76.

Kaneshige M et al. (2000) Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone.

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77.

Safer JD et al. (1999) The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone.

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78.

Abel ED et al. (1999) Divergent roles for thyroid hormone receptor beta isoforms in the endocrine axis and auditory system.

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79.

Koh YS et al. (1999) Linkage of the nuclear hormone receptor genes NR1D2, THRB, and RARB: evidence for an ancient, large-scale duplication.

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80.

Sasaki S et al. (1993) Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-beta.

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81.

NCBI article

NCBI 7068 external link
82.

OMIM.ORG article

Omim 190160 external link
83.

Orphanet article

Orphanet ID 120101 external link
84.

Wikipedia article

Wikipedia EN (Thyroid_hormone_receptor_beta) external link
Update: Aug. 14, 2020
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