Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Eleven single nucleotide polymorphisms and one triple nucleotide insertion of the human TGF-β III receptor gene

Abstract

We found 11 single nucleotide polymorphisms and one triple nucleotide insertion in the cDNA of the human transforming growth factor β (TGF-β) III receptor gene (TGFBR3) located on 1p33–p32, encoding betaglycan, a component of the TGF-β 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.

Author information

Affiliations

Authors

Additional information

Received: December 22, 1999 / Accepted: February 25, 2000

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Zippert, R., Bäßler, A., Holmer, S. et al. Eleven single nucleotide polymorphisms and one triple nucleotide insertion of the human TGF-β III receptor gene. J Hum Genet 45, 250–253 (2000). https://doi.org/10.1007/s100380070035

Download citation

  • Key words TGF-β III receptor gene
  • TGFBR3
  • Polymorphism
  • Chromosome 1p33–p32

Search

Quick links