Abstract
The GIPC1 gene product promotes clustering of some transmembrane receptors, including those involved in carcinogenesis, and protects them against ubiquitin-dependent degradation. The 5′ untranslated region of GIPC1 contains a polymorphic trinucleotide CGG repeat, which has not been characterized earlier. In the present study, we have carried out comparative analysis of the allele and genotype frequencies of this repeat in 129 samples of breast cancer (BC), 58 samples of non-small cell lung cancer (NSCLC), and 215 samples of healthy donors. The CGG repeat in the 5′ untranslated GIPC1 gene region was shown to be highly polymorphic and represented by at least eight alleles. Alleles CGG 10–13 were major, occurring at frequencies of 22, 41, 27, and 9%, respectively; the total frequency of the remaining alleles was approximately 1%. Heterozygosity of the CGG repeat was 0.70. Allele CGG 12 was shown to be associated with high risk of developing NSCLC (α = 0.05).
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REFERENCES
Katoh, M., GIPC Gene Family, Int. J. Mol. Med., 2002, vol. 9, pp. 585–589.
Blobe, G.C., Liu, X., Fang, S.J., et al., A Novel Mechanism for Regulating Transforming Growth Factor β (TGF-β) Signaling, J. Biol. Chem., 2001, vol. 276, no.43, pp. 39 608–39 617.
Blobe, G.C., Schiemann, W.P., and Lodish, H.F., Role of Transforming Growth Factor β in Human Disease, New Engl. J. Med., 2000, vol. 342, no.18, pp. 1350–1358.
Pal'tsev, M.A., Ivanov, A.A., and Severin, E.S., Mezhkletochnye vzaimodeistviya (Intercellular Interactions), Moscow: Meditsina, 2003.
Awan, A., Lucic, M.R., Shaw, D.M., et al., 5T4 Interacts with TIP-2/GIPC, a PDZ Protein, with Implications for Metastasis, Biochem. Biophys. Res. Commun., 2002, vol. 290, no.3, pp. 1030–1036.
Boyle, J.M., Grzeschik, K.-H., Heath, P.R., et al., Trophoblast Glycoprotein Recognized by Monoclonal Antibody 5T4 Maps to Human Chromosome 6q14-q15, Hum. Genet., 1990, vol. 84, pp. 455–458.
Wren, J.D., Forgacs, E., Fondon, J.W., et al., Repeat Polymorphisms within Gene Regions: Phenotypic and Evolutionary Implications, Am. J. Hum. Genet., 2000, vol. 67, pp. 345–356.
Maniatis, T., Fritsch, E.F., and Sambrook, J., Molecular Cloning: A Laboratory Manual, Cold Spring Harbor, New York: Cold Spring Harbor Lab., 1989.
Kirikoshi, H. and Katoh, M., Expression of Human GIPC1 in Normal Tissues, Cancer Cell Lines, and Primary Tumors, Int. J. Mol. Med., 2002, vol. 9, pp. 509–513.
NCBI (http://www.ncbi.nlm.nih.gov).
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Translated from Genetika, Vol. 41, No. 9, 2005, pp. 1289–1295.
Original Russian Text Copyright © 2005 by Mikhaylenko, Lyubchenko, Zborovskaya, Strelnikov, Zaletayev.
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Mikhaylenko, D.S., Lyubchenko, L.N., Zborovskaya, I.B. et al. Analysis of Polymorphic Variants of Gene GIPC1 CGG Repeats in Healthy Individuals and in Patients with Breast Cancer and Non-Small Cell Lung Cancer. Russ J Genet 41, 1059–1062 (2005). https://doi.org/10.1007/s11177-005-0200-z
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DOI: https://doi.org/10.1007/s11177-005-0200-z