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Journal of Endocrinological Investigation

, Volume 27, Issue 4, pp 318–322 | Cite as

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
Original Article

Abstract

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 non-coding 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.

Key-words

Real-time PCR splice site score alternative splicing splice junction human fibroblasts 

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Copyright information

© Italian Society of Endocrinology (SIE) 2004

Authors and Affiliations

  • D. Mannavola
    • 1
    • 4
    • 5
  • L. C. Moeller
    • 1
  • P. Beck-Peccoz
    • 4
    • 5
  • L. Persani
    • 4
    • 6
  • R. E. Weiss
    • 1
  • S. Refetoff
    • 1
    • 2
    • 3
  1. 1.Department of MedicineUniversity of ChicagoChicagoUSA
  2. 2.Department of PediatricsThe University of ChicagoChicagoUSA
  3. 3.Committee on GeneticsThe University of ChicagoChicagoUSA
  4. 4.Institute of Endocrine Sciences, Faculty of MedicineUniversity of MilanUSA
  5. 5.Ospedale Maggiore IRCCSUSA
  6. 6.Italian Institute for Auxology IRCCSMilanItaly

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