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, Roy E Weiss, S. Refetoff

Research output: Contribution to journalArticle

4 Citations (Scopus)

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 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 (US)
Pages (from-to)318-322
Number of pages5
JournalJournal of Endocrinological Investigation
Volume27
Issue number4
StatePublished - Apr 2004
Externally publishedYes

Fingerprint

Thyroid Hormone Receptors
5' Untranslated Regions
Fibroblasts
RNA Splice Sites
Thyroid Hormone Resistance Syndrome
Muscles
Pituitary Gland
Adrenal Glands
Thyroid Hormones
Placenta
Genes
Real-Time Polymerase Chain Reaction
Exons
Thyroid Gland
Nucleotides
Complementary DNA
Lymphocytes
RNA
Mutation
Brain

Keywords

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

ASJC Scopus subject areas

  • Endocrinology

Cite this

Mannavola, D., Moeller, L. C., Beck-Peccoz, P., Persani, L., Weiss, R. E., & Refetoff, S. (2004). A novel splice variant involving the 5′ untranslated region of thyroid hormone receptor β1 (TRβ1). Journal of Endocrinological Investigation, 27(4), 318-322.

A novel splice variant involving the 5′ untranslated region of thyroid hormone receptor β1 (TRβ1). / Mannavola, D.; Moeller, L. C.; Beck-Peccoz, P.; Persani, L.; Weiss, Roy E; Refetoff, S.

In: Journal of Endocrinological Investigation, Vol. 27, No. 4, 04.2004, p. 318-322.

Research output: Contribution to journalArticle

Mannavola, D, Moeller, LC, Beck-Peccoz, P, Persani, L, Weiss, RE & Refetoff, S 2004, 'A novel splice variant involving the 5′ untranslated region of thyroid hormone receptor β1 (TRβ1)', Journal of Endocrinological Investigation, vol. 27, no. 4, pp. 318-322.
Mannavola, D. ; Moeller, L. C. ; Beck-Peccoz, P. ; Persani, L. ; Weiss, Roy E ; Refetoff, S. / A novel splice variant involving the 5′ untranslated region of thyroid hormone receptor β1 (TRβ1). In: Journal of Endocrinological Investigation. 2004 ; Vol. 27, No. 4. pp. 318-322.
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