Novel alleles of the transforming growth factor β-1 regulatory region and exon 1. Tissue Antigens 2015 Jun;85(6):484-91
Date
03/27/2015Pubmed ID
25808355DOI
10.1111/tan.12555Scopus ID
2-s2.0-84928996252 (requires institutional sign-in at Scopus site) 2 CitationsAbstract
Transforming growth factor β-1, encoded by the TGFB1 gene, is a cytokine that plays a central role in many physiologic and pathogenic processes with pleiotropic effects. Regulatory activity for this gene has been shown for 3.0 kb between positions -2665 and +423 from its translational start site. At least 17 TGFB1 regulatory region and exon 1 alleles have been defined on the basis of 18 polymorphic sites. Polymorphisms in TGFB1's regulatory region have been associated with differential levels of expression of this cytokine and to genetic risk in cancer and transplantation. In this report, we present 19 novel TGFB1 regulatory region and exon 1 alleles: p018-p036. Amplification of TGFB1's regulatory region was performed with an in-house protocol, and novel alleles were defined by either allele-specific amplification and/or molecular cloning of the amplicons, followed by sequencing in isolation. Three of these novel alleles (p018, p019, and p020) are shown to be formed by novel combinations of the aforementioned known polymorphic positions. Another 16 novel alleles are shown to carry additional known and unknown single-nucleotide polymorphisms. Polymorphism in TGFB1's regulatory region could have an impact on important processes, including embryogenesis, hematopoiesis, carcinogenesis, angiogenesis, fibrosis, immune responses, and transplantation, making its characterization necessary.
Author List
Arrieta-Bolaños E, Madrigal JA, Shaw BEAuthor
Bronwen E. Shaw MBChB, PhD Center Director, Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
5' Untranslated RegionsAlleles
Cloning, Molecular
Escherichia coli
Exons
Humans
Polymorphism, Single Nucleotide
Recombinant Fusion Proteins
Regulatory Sequences, Nucleic Acid
Sequence Alignment
Sequence Analysis, DNA
Stem Cell Transplantation
Tissue Donors
Transforming Growth Factor beta1
