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

Boris Pasche, Yan Luo, Pulivarthi H. Rao, Stephen D Nimer, Ethan Dmitrovsky, Philip Caron, Lucio Luzzatto, Kenneth Offit, Carlos Cordon-Cardo, Béatrice Renault, Jaya M. Satagopan, Vundavalli V V S Murty, Joan Massagué

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)2727-2732
Number of pages6
JournalCancer Research
Volume58
Issue number13
StatePublished - Jul 1 1998
Externally publishedYes

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Growth Factor Receptors
Transforming Growth Factors
Neoplasms
Alanine
Homozygote
Heterozygote
Blood Donors
polyalanine
Tissue Donors
Mutation
DNA
Growth
Genes

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Pasche, B., Luo, Y., Rao, P. H., Nimer, S. D., Dmitrovsky, E., Caron, P., ... Massagué, J. (1998). Type I transforming growth factor β receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract. Cancer Research, 58(13), 2727-2732.

Type I transforming growth factor β receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract. / Pasche, Boris; Luo, Yan; Rao, Pulivarthi H.; Nimer, Stephen D; Dmitrovsky, Ethan; Caron, Philip; Luzzatto, Lucio; Offit, Kenneth; Cordon-Cardo, Carlos; Renault, Béatrice; Satagopan, Jaya M.; Murty, Vundavalli V V S; Massagué, Joan.

In: Cancer Research, Vol. 58, No. 13, 01.07.1998, p. 2727-2732.

Research output: Contribution to journalArticle

Pasche, B, Luo, Y, Rao, PH, Nimer, SD, Dmitrovsky, E, Caron, P, Luzzatto, L, Offit, K, Cordon-Cardo, C, Renault, B, Satagopan, JM, Murty, VVVS & Massagué, J 1998, 'Type I transforming growth factor β receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract', Cancer Research, vol. 58, no. 13, pp. 2727-2732.
Pasche, Boris ; Luo, Yan ; Rao, Pulivarthi H. ; Nimer, Stephen D ; Dmitrovsky, Ethan ; Caron, Philip ; Luzzatto, Lucio ; Offit, Kenneth ; Cordon-Cardo, Carlos ; Renault, Béatrice ; Satagopan, Jaya M. ; Murty, Vundavalli V V S ; Massagué, Joan. / Type I transforming growth factor β receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract. In: Cancer Research. 1998 ; Vol. 58, No. 13. pp. 2727-2732.
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