title: Eleven single nucleotide polymorphisms and one triple nucleotide insertion of the human TGF-beta III receptor gene.
abstract: We found 11 single nucleotide polymorphisms and one triple nucleotide insertion in the cDNA of the human transforming growth factor beta (TGF-beta) III receptor gene (TGFBR3) located on 1p33-p32, encoding beta-glycan, a component of the TGF-beta receptor system. Inside the 5' untranslated region (UTR), a G-->A polymorphism was identified at position 311. In the open reading frame (ORF), a non-conservative T-->C polymorphism was identified at position 392, and three conservative polymorphisms were found at positions 563 (G-->A), 1548 (G-->A), and 2370 (C-->T). A triple nucleotide insertion (GCA) was identified at position 1419. Inside the 3' UTR, six polymorphisms were identified: four G-->A, at positions 2918, 3055, 3098, and 3355; one T-->A, at position 3183; and one G-->C, at position 3966. In addition to these changes, some divergences from the published sequence were observed in all 12 chromosomes tested. These included, in the ORF, an additional C after position 555, two additional G after position 563, and an additional T after position 1388. No T was found at position 1394. The alterations translate to a changed amino acid sequence. Inside the 3' UTR, additional discrepancies were identified. The discovered changes and polymorphisms may be useful for further genetic studies of TGFBR3 receptor deficiencies.
authors.affiliation: Klinik und Poliklinik für Innere Medizin II, University of Regensburg, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Zippert
authors.forename: A
authors.initials: A
authors.lastname: Bässler
authors.forename: S R
authors.initials: SR
authors.lastname: Holmer
authors.forename: C
authors.initials: C
authors.lastname: Hengstenberg
authors.forename: H
authors.initials: H
authors.lastname: Schunkert
mesh_terms: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006801:Humans; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D020641:Polymorphism, Single Nucleotide; D011509:Proteoglycans / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D011509:Proteoglycans; D018125:Receptors, Transforming Growth Factor beta; C071736:betaglycan