Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid hormone receptor alpha

The THRA gene encodes the alpha subunit of the nuclear hormone receptor for triiodothyronine. Mutations cause autosomal dominant thyroid hormone resistance.

Genetests:

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

Related Diseases:

Congenital nongoitrous hypothyroidism 6
THRA
Thyroid hormone resistance, generalized, autosomal dominant
THRA
THRB

References:

1.

Bernal J et. al. (1978) Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action.

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2.

Laudet V et. al. (1991) Genomic organization of the human thyroid hormone receptor alpha (c-erbA-1) gene.

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3.

Koenig RJ et. al. (1989) Inhibition of thyroid hormone action by a non-hormone binding c-erbA protein generated by alternative mRNA splicing.

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4.

Miyajima N et. al. (1989) Two erbA homologs encoding proteins with different T3 binding capacities are transcribed from opposite DNA strands of the same genetic locus.

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5.

Sakurai A et. al. (1989) Expression of three forms of thyroid hormone receptor in human tissues.

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6.

Rider SH et. al. (1987) RFLP for the human erb-A1 gene.

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7.

Mathieu-Mahul D et. al. (1985) An EcoRI restriction fragment length polymorphism (RFLP) in the human c-erb A locus.

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8.

Nakai A et. al. (1988) Characterization of a thyroid hormone receptor expressed in human kidney and other tissues.

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9.

Mitelman F et. al. (1986) High resolution chromosome analysis of constitutional and acquired t(15;17) maps c-erbA to subband 17q11.2.

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10.

Ichikawa K et. al. (1987) Characterization of nuclear thyroid hormone receptors of cultured skin fibroblasts from patients with resistance to thyroid hormone.

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11.

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

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12.

Benbrook D et. al. (1987) A novel thyroid hormone receptor encoded by a cDNA clone from a human testis library.

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13.

Jhanwar SC et. al. (1985) Germ-line chromosomal localization of human C-Erb-A oncogene.

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14.

Sheer D et. al. (1985) Localization of the oncogene c-erbA1 immediately proximal to the acute promyelocytic leukaemia breakpoint on chromosome 17.

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15.

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

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16.

Zabel BU et. al. (1984) Cellular homologs of the avian erythroblastosis virus erb-A and erb-B genes are syntenic in mouse but asyntenic in man.

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17.

Menezes-Ferreira MM et. al. (1984) Decreased nuclear uptake of [125I]triiodo-L-thyronine in fibroblasts from patients with peripheral thyroid hormone resistance.

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18.

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

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19.

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

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20.

Debuire B et. al. (1984) Sequencing the erbA gene of avian erythroblastosis virus reveals a new type of oncogene.

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21.

Ferro MT et. al. (1981) Constitutional t(15;17)

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22.

Dayton AI et. al. (1984) A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia.

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23.

Anderson LA et. al. (1993) High-density genetic map of the BRCA1 region of chromosome 17q12-q21.

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24.

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

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25.

McCabe CJ et. al. (1999) Thyroid receptor alpha1 and alpha2 mutations in nonfunctioning pituitary tumors.

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26.

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

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27.

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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28.

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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29.

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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30.

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

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31.

Visser WE et. al. (2010) Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.

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32.

Bochukova E et. al. (2012) A mutation in the thyroid hormone receptor alpha gene.

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33.

van Mullem A et. al. (2012) Clinical phenotype and mutant TRα1.

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34.

Tylki-Szymańska A et. al. (2015) Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

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35.

van Gucht ALM et. al. (2017) Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha.

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36.

Moran C et. al. (2015) Resistance to thyroid hormone due to defective thyroid receptor alpha.

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37.

Vlaeminck-Guillem V et. al. (2015) TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.

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38.

Tang Y et. al. (2016) Resistance to thyroid hormone α, revelation of basic study to clinical consequences.

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Update: Sept. 26, 2018