Type I transforming growth factor β receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract Journal Article


Authors: Pasche, B.; Luo, Y.; Rao, P. H.; Nimer, S. D.; Dmitrovsky, E.; Caron, P.; Luzzatto, L.; Offit, K.; Cordon-Cardo, C.; Renault, B.; Satagopan, J. M.; Murty, V. V. V. S.; Massagué, J.
Article Title: Type I transforming growth factor β receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract
Abstract: In a search for mutation of the type I transforming growth factor β receptor (TβR-I), we mapped the gene to 9q22 and found a common polymorphism [TβR-I(6A)] and a rare variant [TβR-I(10A)] of TβR-I, causing an in-frame deletion of three alanines and an in-frame insertion of one alanine, respectively, in the receptor's extracellular domain. The biological relevance of the polymorphism TβR-I(6A) was investigated. When TβR-I(6A) was transiently transfected into TβR-I-deficient cells, the growth- inhibitory effects of transforming growth factor β were restored. TβR- I(6A) and TβR-(10A) frequency were assessed in 108 tumor samples and 80 nontumor samples donors of comparable ethnic composition. The frequency of TβR-I(6A) heterozygotes was fairly similar in normal blood donors (8%), in nontumor DNA of patients with a diagnosis of cancer (10%), and in tumor samples (14%). However, the frequency of TβR-I(6A) homozygotes among nontumor (4%) and tumor (8%) samples obtained from patients with a diagnosis of cancer was higher than that predicted by the Hardy-Weinberg law. The clinical and biological significance of TβR-I(6A) homozygosity needs to be further investigated.
Keywords: signal transduction; human cell; sequence deletion; cell proliferation; reverse transcription polymerase chain reaction; gene amplification; colonic neoplasms; genetic variability; chromosomes, human, pair 9; gene frequency; urinary bladder neoplasms; tumor suppressor gene; amino acid sequence; molecular sequence data; leukemia, myeloid; acute myeloblastic leukemia; transforming growth factor beta receptor; receptors, transforming growth factor beta; alanine; codon; polymorphism, genetic; blood donors; acute disease; chromosome map; chromosome mapping; dna polymorphism; chromosome 9q; humans; human; priority journal; article
Journal Title: Cancer Research
Volume: 58
Issue: 13
ISSN: 0008-5472
Publisher: American Association for Cancer Research  
Date Published: 1998-07-01
Start Page: 2727
End Page: 2732
Language: English
PUBMED: 9661882
PROVIDER: scopus
DOI/URL:
Notes: Article -- Export Date: 12 December 2016 -- Source: Scopus