A novel splice variant involving the 5′ untranslated region of thyroid hormone receptor β1 (TRβ1)

D. Mannavola, L. C. Moeller, P. Beck-Peccoz, L. Persani, R. E. Weiss, S. Refetoff

Research output: Contribution to journalArticlepeer-review


The thyroid hormone receptor β (TRβ) gene generates two different proteins by use of a different promoter (β1 and β2). We now report a novel short TRβ1 RNA splice variant in humans lacking 35 nucleotides at the 3′ end of the noncoding exon 1 due to an alternative 5′ splice donor site. This short variant was first identified in sequences of cDNA obtained from cultured human fibroblasts. Both variants were found in human fibroblasts, brain, pituitary, adrenal gland, placenta, muscle, thyroid and lymphocytes. These TRβ1 variants possess splice donor sites with a sequence score slightly favoring the TRβ1 long variant. Variant-specific real-time polymerase chain reaction (PCR) showed that their relative proportions were equal except in pituitary and muscle, in which the long form was 3- and 5-fold in excess. T3 treatment of fibroblasts grown in thyroid hormone depleted medium did not affect the absolute or relative expression of the two variants. Furthermore, the expression level in fibroblasts from patients with resistance to thyroid hormone with or without TRβ gene mutations was not different to that in fibroblasts from normal controls.

Original languageEnglish
Pages (from-to)318-322
Number of pages5
JournalJournal of Endocrinological Investigation
Issue number4
Publication statusPublished - Apr 2004


  • Alternative splicing
  • Human fibroblasts
  • Real-time PCR
  • Splice junction
  • Splice site score

ASJC Scopus subject areas

  • Endocrinology


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