Multi-Factorial Regulation of in Vivo Action of TRβ Mutants. Lessons Learned from RTH Mice with a Targeted Mutation in the TRβ Gene

  • Sheue-yann Cheng
Part of the Endocrine Updates book series (ENDO, volume 22)


The discovery that there is tight linkage between the affected family members of resistance to thyroid hormone (RTH) and the thyroid hormone receptor β (TRβ) gene locus ushered in an exciting opportunity to study the molecular basis of RTH (1). Indeed, shortly thereafter, a Pro453His mutation was identified in the TRβ gene of one kindred (2) and a Gly345rg mutation in another (3), establishing that mutations of the TRβ gene cause RTH. To date, about 100 different mutations in the TRβ gene have been reported in more than 300 families (4).


Thyroid Hormone Thyroid Hormone Receptor Myosin Heavy Chain Gene Circulate Thyroid Hormone Dominant Negative Activity 
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Copyright information

© Kluwer Academic Publishers 2004

Authors and Affiliations

  • Sheue-yann Cheng
    • 1
  1. 1.Gene Regulation Section, Laboratory of Molecular Biology, Center for Cancer Research, National Cancer InstituteNational Institutes of HealthBethesdaUSA

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