Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor. beta

Journal Article · Wed Nov 01 04:00:00 EST 1989 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.86.22.8977· OSTI ID:7165509

Sakurai, A; Takeda, K; Ain, K; Ceccarelli, P; Nakai, A; Seino, S; Bell, G I; Refetoff, S; DeGroot, L J ^[1]

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1. Univ. of Chicago, IL (USA)

The syndrome of generalized resistance to thyroid hormone is characterized by elevated circulating levels of thyroid hormone in the presence of an overall eumetabolic state and failure to respond normally to triiodothyronine. The authors have evaluated a family with inherited generalized resistance to thyroid hormone for abnormalities in the thyroid hormone nuclear receptors. A single guanine {yields} cytosine replacement in the codon for amino acid 340 resulted in a glycine {yields} arginine substitution in the hormone-binding domain of one of two alleles of the patient's thyroid hormone nuclear receptor {beta} gene. In vitro translation products of this mutant human thyroid hormone nuclear receptor {beta} gene did not bind triiodothyronine. Thus, generalized resistance to thyroid hormone can result from expression of an abnormal thyroid hormone nuclear receptor molecule.

• OSTI ID: 7165509
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Vol. 86:22; ISSN PNASA; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

550401* -- Genetics-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AMINES
AMINO ACIDS
ARGININE
AROMATICS
AZAARENES
AZINES
BETA DECAY RADIOISOTOPES
CARBOXYLIC ACIDS
CODONS
CYTOSINE
DAYS LIVING RADIOISOTOPES
DISEASES
DNA
DNA BASE TRANSITIONS
DNA SEQUENCING
ELECTRON CAPTURE RADIOISOTOPES
ETIOLOGY
GENE AMPLIFICATION
GLYCINE
GONADOTROPINS
GUANINE
HEREDITARY DISEASES
HETEROCYCLIC COMPOUNDS
HORMONES
HYDROXY COMPOUNDS
INTERMEDIATE MASS NUCLEI
IODINE 125
IODINE ISOTOPES
ISOTOPE APPLICATIONS
ISOTOPES
LIGANDS
LTH
MEMBRANE PROTEINS
NUCLEI
NUCLEIC ACIDS
ODD-EVEN NUCLEI
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
ORGANIC OXYGEN COMPOUNDS
PATIENTS
PEPTIDE HORMONES
PITUITARY HORMONES
PROTEINS
PURINES
PYRIMIDINES
RADIOISOTOPES
RADIORECEPTOR ASSAY
RECEPTORS
RECOMBINANT DNA
STRUCTURAL CHEMICAL ANALYSIS
THYROID HORMONES
TRACER TECHNIQUES
TRH
TRIIODOTHYRONINE
TSH