title: A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1).
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.
authors.affiliation: Department of Medicine, The University of Chicago, Chicago, Illinois 60637, USA.
authors.forename: D
authors.initials: D
authors.lastname: Mannavola
authors.forename: L C
authors.initials: LC
authors.lastname: Moeller
authors.forename: P
authors.initials: P
authors.lastname: Beck-Peccoz
authors.forename: L
authors.initials: L
authors.lastname: Persani
authors.forename: R E
authors.initials: RE
authors.lastname: Weiss
authors.forename: S
authors.initials: S
authors.lastname: Refetoff
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D017398:Alternative Splicing / Q000235:genetics*; D001483:Base Sequence; D002478:Cells, Cultured; D005347:Fibroblasts / Q000737:chemistry / Q000187:drug effects; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics; D014284:Triiodothyronine / Q000494:pharmacology
chemical_list: D020121:5' Untranslated Regions; D012333:RNA, Messenger; D037042:Thyroid Hormone Receptors beta; D014284:Triiodothyronine