Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Schilddrüsenhormonrezeptor beta

Das THRB-Gen kodiert die beta Untereinheit des Schilddrüsenhormonrezeptors. Mutationen sind für die Schilddrüsenhormonresistenz verantwortlich die sowohl dominant als auch rezessiv vererbt werden kann. Bei einigen Mutationen ist die Resistenz auf die Hypophyse und den Hypothalamus begrenzt.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Selektive hypophysäre Schilddrüsenhormonresistenz
THRB
Autosomal rezessive generalisierte Schilddrüsenhormonresistenz
THRB
Autosomal dominante generalisierte Schilddrüsenhormonresistenz
THRB

Referenzen:

1.

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

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2.

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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3.

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

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4.

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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5.

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

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6.

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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7.

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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8.

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

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9.

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

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10.

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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11.

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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12.

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13.

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

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14.

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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15.

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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16.

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

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17.

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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18.

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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19.

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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20.

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

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21.

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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22.

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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23.

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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24.

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25.

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

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26.

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27.

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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28.

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

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29.

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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30.

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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31.

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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32.

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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33.

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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34.

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35.

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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36.

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

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37.

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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38.

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

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39.

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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40.

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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41.

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

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42.

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

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43.

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44.

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

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45.

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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46.

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47.

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48.

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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49.

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50.

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51.

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

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52.

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53.

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54.

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

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55.

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56.

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

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57.

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

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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.

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60.

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

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61.

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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62.

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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63.

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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64.

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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65.

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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66.

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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67.

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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68.

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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69.

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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70.

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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71.

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

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72.

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

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73.

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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74.

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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75.

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

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76.

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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77.

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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78.

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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79.

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

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80.

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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