PMID: 15233549Jul 6, 2004Paper

A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1)

Journal of Endocrinological Investigation
D MannavolaSamuel Refetoff

Abstract

The thyroid hormone receptor beta (TRbeta) gene generates two different proteins by use of a different promoter (beta1 and beta2). We now report a novel short TRbeta1 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 TRbeta1 variants possess splice donor sites with a sequence score slightly favoring the TRbeta1 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 TRbeta gene mutations was not different to that in fibroblasts from normal controls.

References

May 29, 1992·Biochemical and Biophysical Research Communications·A SakuraiL J DeGroot
Feb 1, 1987·The Journal of Clinical Endocrinology and Metabolism·Y MurataN Matsui
Dec 1, 1983·The Journal of Clinical Endocrinology and Metabolism·Y MurataT J Smith
Nov 1, 1982·The Journal of Clinical Investigation·T J SmithS Refetoff
Oct 25, 2000·Molecular and Cellular Biology·G R Williams
Jun 28, 2001·Physiological Reviews·P M Yen

❮ Previous
Next ❯

Citations

Jan 27, 2005·Clinical Endocrinology·Deborah MannavolaPaolo Beck-Peccoz

❮ Previous
Next ❯

Related Concepts

Related Feeds

Alternative splicing

Alternative splicing a regulated gene expression process that allows a single genetic sequence to code for multiple proteins. Here is that latest research.