Cloning and Genomic Organization of the Human Transforming Growth Factor-β Type I Receptor Gene

Vellucci, Vincent F.; Reiß, Michael

doi:10.1006/geno.1997.5023

Cited by 31 publications

(26 citation statements)

References 30 publications

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“…The analysis of the generated genomic sequence indicated that the porcine TGFBR1 gene consists of 9 exons and 8 introns which confirms the results known from human, bovine and mouse orthologs (Roelen et al, 1998;Tomoda et al, 1994;Vellucci and Reiss, 1997). The genomic size of the porcine TGFBR1 gene (62,182 bp) is similar to that of mouse (61,619 bp, Ensembl Gene ID: ENSMUSG 00000007613).…”

Section: Discussionsupporting

confidence: 78%

“…Therefore, the possibility of different lengths of 3′-UTR in porcine TGFBR1 gene could not be ruled out in other tissues by using alternative polyadenylation signals. In addition, all of the exon-intron junctions follow the GT-AG rule for splice-donor and splice-acceptor sites ( Table 2) which is also identified in other mammalian TGFBR1 (Roelen et al, 1998;Tomoda et al, 1994;Vellucci and Reiss, 1997). The core promoter of the porcine TGFBR1 gene lacks a TATA box but contains a variety of other elements which demonstrate to provide promoter function.…”

Section: Discussionmentioning

confidence: 94%

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Isolation and molecular characterization of the porcine transforming growth factor beta type I receptor (TGFBR1) gene

Chen

Rund

Beever

et al. 2006

Gene

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 94%

Isolation and molecular characterization of the porcine transforming growth factor beta type I receptor (TGFBR1) gene

Chen

Rund

Beever

et al. 2006

Gene

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“…1). The putative open reading frame (ORF) of the shorter one is 1500 bp in length and encodes a predicted protein of 499 amino acid residues, which shows 96.2% sequence similarity to human (NM 004612) TGFBR1 and 97.2% sequence similarity to the bovine (NM 174621) TGFBR1 protein (Vellucci and Reiss, 1997;Roelen et al, 1998). In comparison, the ORF of human TGFBR1 is 1512 bp in length; the 12 bp of elongation is due to additional repeats of the trinucleotide GCG in human exon 1, leading to a total of nine repeats of GCG that encode consecutive alanine residues.…”

Section: Resultsmentioning

confidence: 99%

Structure and Polymorphism Analysis of Transforming Growth Factor Beta Receptor 1 (TGFBR1) in Pigs

Shimanuki

Mikawa²,

Miyake³

et al. 2005

Biochem Genet

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Many quantitative trait loci (QTL) for growth and reproductive traits have been detected on the porcine chromosome region 1qter (SSC1qter), making it one of the most important genomic regions for pig breeding. SSC1q corresponds to human chromosome 9, on which lies transforming growth factor beta receptor 1 (TGFBR1). We cloned the porcine TGFBR1 cDNA and gene (as a candidate for QTL) and analyzed the gene structure and polymorphism. Porcine TGFBR1 consists of 9 exons and 8 introns. Intron 2 is alternatively spliced at the acceptor site, resulting in two kinds of mRNA, with putative open reading frames of 1500 and 1512 bp in length. The shorter one encodes 499 amino acid residues. The amino acid sequence has 96.2 and 97.2% sequence similarity to those of human and bovine TGFBR1, respectively. The sequence similarity between porcine and murine TGFBR1 is 95.6%. We detected three single-nucleotide substitutions in exons 1, 2, and 7. Those in exons 1 and 7 are nonsynonymous substitutions resulting in Pro8Ser and Ile413Val substitutions, respectively.

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“…Constitutively decreased TGFBR1 expression, probably leading to TGF-ß resistance in tumor (26), is emerging as a novel tumor-predisposing phenotype (12). Valle et al reported that ASE of TGFBR1 gene occurred in 10-20% of CRC patients compared to 1-3% in controls, and showed that this associate with reduced expression of TGFBR1, suggesting the possibility that TGFBR1 ASE might play a role in sporadic CRC (19).…”

Section: Discussionmentioning

confidence: 99%

A haplotype of TGFBR1 is predominantly found in non-small cell lung cancer patients displaying TGFBR1 allelic-specific expression

Sun

Li²,

Liu³

et al. 2011

Oncol Rep

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Abstract. Non-small cell lung cancer (NSCLC) accounts for 85% of all cases of lung cancer and TGF-ß refractoriness is very common in NSCLC cells. Constitutively decreased TGFBR1 expression, probably leading to TGF-ß resistance in tumors, is emerging as a novel tumor-predisposing phenotype. However, the precise genetic/epigenetic mechanisms underlying the role of TGFBR1 in NSCLC carcinogenesis are still largely unknown. In the present study, we performed the SNaPshot method to quantify allelicspecific expression (ASE) of two chosen SNPs that are located in the 3' untranslated region (3' UTR) of the TGFBR1 gene. We selected seven tagging SNPs (tSNPs) of TGFBR1 to assess the relationship between ASE of TGFBR1 and tSNPreconstructed haplotypes in NSCLC tumors. ASE of TGFBR1 was detected in 21.1% of NSCLC tumors. One tagging SNP (rs7040869) of TGFBR1 in the 5' flanking region was found to be significantly associated with TGFBR1 ASE in NSCLC tumors (P=0.03). A 2-tSNP AT haplotype reconstructed with tSNP rs7040869 and rs4743325, in linkage disequilibrium with each other, was strongly associated with NSCLC cases displaying ASE (P=0.01). In conclusion, our results shed light on the high frequency of TGFBR1 ASE phenotype in NSCLC tumors, which is associated with the 2-tSNP haplotype of the TGFBR1 gene. Although this suggests an important role of the TGFBR1 locus in the etiology of NSCLC, additional studies at the germline level and in various ethnic populations are warranted.

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Cloning and Genomic Organization of the Human Transforming Growth Factor-β Type I Receptor Gene

Cited by 31 publications

References 30 publications

Isolation and molecular characterization of the porcine transforming growth factor beta type I receptor (TGFBR1) gene

Isolation and molecular characterization of the porcine transforming growth factor beta type I receptor (TGFBR1) gene

Structure and Polymorphism Analysis of Transforming Growth Factor Beta Receptor 1 (TGFBR1) in Pigs

A haplotype of TGFBR1 is predominantly found in non-small cell lung cancer patients displaying TGFBR1 allelic-specific expression

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