Suppression of the deafness and thyroid dysfunction in Thrb-null mice by an independent mutation in the Thra thyroid hormone receptor alpha gene

Hum Mol Genet. 2001 Nov 1;10(23):2701-8. doi: 10.1093/hmg/10.23.2701.

Abstract

Deletion of thyroid hormone receptor beta (TR beta), a ligand-dependent transcription factor encoded by the Thrb gene, causes deafness and thyroid hyperactivity in Thrb-null (Thrb(tm1/tm1)) mice and in a recessive form of the human syndrome of resistance to thyroid hormone. Here, we have determined that a targeted mutation (Thra(tm2)) in the related Thra gene, encoding thyroid hormone receptor alpha suppresses these phenotypes in mice. Thra encodes a TR alpha 1 receptor which is non-essential for hearing and a TR alpha 2 splice variant of unknown function that neither binds thyroid hormone nor transactivates. The Thra(tm2) mutation deletes TR alpha 2 and concomitantly causes overexpression of TR alpha 1 as a consequence of the exon structure of the gene. Thra(tm2/tm2) mice have normal auditory thresholds indicating that TR alpha 2 is dispensable for hearing, and have only marginally reduced thyroid activity. However, a potent function for the Thra(tm2) allele is revealed upon its introduction into Thrb(tm1/tm1) mice, where it suppresses the auditory and thyroid phenotypes caused by loss of TR beta. These findings reveal a novel modifying function for a Thra allele and suggest that increased expression of TR alpha 1 may substitute for the absence of TR beta. The TR isotypes generated by the distinct Thrb and Thra genes represent a small family of receptors that have diverged to mediate different physiological roles; however, the ability of changes in Thra expression to compensate for loss of Thrb indicates that many functions of these genes remain closely related.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Body Weight
  • Cochlea / cytology
  • Cochlea / metabolism
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology
  • Deafness / genetics
  • Deafness / physiopathology*
  • Evoked Potentials, Auditory, Brain Stem / physiology
  • Gene Deletion
  • Gene Expression
  • Genotype
  • Hair Cells, Auditory, Inner / physiology
  • Membrane Potentials / physiology
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C57BL
  • Mice, Inbred Strains
  • Mice, Mutant Strains
  • Mutation
  • Potassium Channels / physiology
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Receptors, Cytoplasmic and Nuclear / physiology
  • Receptors, Thyroid Hormone / genetics*
  • Receptors, Thyroid Hormone / physiology
  • Suppression, Genetic
  • Thyroid Gland / metabolism
  • Thyroid Gland / physiopathology*
  • Thyrotropin / blood
  • Thyroxine / blood
  • Triiodothyronine / blood

Substances

  • DNA-Binding Proteins
  • Potassium Channels
  • RNA, Messenger
  • Receptors, Cytoplasmic and Nuclear
  • Receptors, Thyroid Hormone
  • Triiodothyronine
  • Thyrotropin
  • Thyroxine