Generalized resistance to thyroid hormone: identification of a novel c-erbA beta thyroid hormone receptor variant (Leu450) in a Japanese family and analysis of its secondary structure by the Chou and Fasman method

Jpn J Hum Genet. 1994 Dec;39(4):365-77. doi: 10.1007/BF01892382.

Abstract

Generalized resistance to thyroid hormone (GRTH) is characterized by elevated circulating levels of thyroid hormone in the presence of a eumetabolic state and failure to respond to triiodothyronine. Various point mutations in the c-erbA beta thyroid hormone receptor gene are known to be responsible for different phenotypes of GRTH. We herein report a new c-erbA beta variant in a Japanese family. The variant consisting of a cytosine to adenine base substitution at nucleotide position 1650 altered phenylalanine to leucine in codon 450 in the T3-binding domain of c-erbA beta. This base substitution was found in one allele of the 2 affected members of the family. The in vitro translation products of this mutant c-erbA beta gene demonstrated a significantly reduced T3-binding affinity. The secondary structure of this mutant thyroid hormone receptor predicted by the Chou and Fasman method included a new turn in the alpha helix structure in the T3-binding domain. We also discuss the secondary structures of the previously reported mutant receptors.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Exons / genetics*
  • Female
  • Genes, erbA / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Protein Structure, Secondary*
  • Receptors, Thyroid Hormone / chemistry*
  • Receptors, Thyroid Hormone / genetics
  • Thyroid Function Tests
  • Thyroid Hormone Resistance Syndrome / blood
  • Thyroid Hormone Resistance Syndrome / genetics*

Substances

  • Receptors, Thyroid Hormone