Transforming Growth Factor-β3 Gene SfaN1 Polymorphism in Korean Nonsyndromic Cleft Lip and Palate Patients

Journal of Biochemistry and Molecular Biology

Volumn 36, Issue 6, 2003, Pages 533-537

  Kim, Myung Hee ^a   Kim, Hyo Jin ^b   Choi, Je Yong ^b   Nahm, Dong Seok ^a  

^a Seoul National University   (South Korea)

^b Kyungpook National University School of Medicine   (South Korea)

Author keywords

Cleft lip and palate; Polymorphism; TGF 3

Indexed keywords

ENDONUCLEASE; GUANINE NUCLEOTIDE; TRANSFORMING GROWTH FACTOR BETA3;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; MALE; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALIA;

EID: 0942268094     PISSN: 12258687     EISSN: None     Source Type: Journal    
DOI: 10.5483/bmbrep.2003.36.6.533     Document Type: Article

References (15)

1. Brunet, C. L., Sharpe, P. M. and Ferguson, M. W. J. (1995) Inhibition of TGF-β3 (but not TGF-β1 or TGF-β2) activity prevents normal mouse embryonic palate fusion. Int. J. Dev. Biol. 39, 345-355.
2. Gaspar, D. A., Matioli, S. R., Pavanello, R. C., Araujo, B. C., Andre, M., Steman, S., Otto, P. A. and Passos-Bueno, M. R. (2002) Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families. Genetic Epidem. 23, 364-374.
3. Kaartinen, V., Voncken, J. W., Shuler, C., Warburton, D., Bu, D., Heisterkamp, N. and Groffen, J. (1995) Abnormal lung development and cleft palate in mice lacking TGF-β3 indicates defects of epithelial-mesenchymal interaction. Nat. Genet. 11, 415-421.
4. Lander, E. S. and Schork, N. J. (1994) Genetic dissection of complex traits. Science 265, 2037-2048.
5. Lidral, A. C., Murray, J. C., Buetow, K., Basart, A. M., Schearer, H., Shiang, R., Naval, A., Magee, K. and Magee, W. (1997) Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines. Cleft Palate Craniofac. J. 34, 1-6.
6. Machida, J., Yoshiura, K. I., Funkhauser, C. D., Natsume, N., Kawai, T. and Murray, J. C. (1999) Transforming growth factor-a (TGFA): Genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only. Genomics 61, 237-242.
7. Maestri, N. E., Beaty, T H., Hetmanski, J., Smith, E. A., McIntosh, I., Wyszynski, D. F., Liang, K. Y., Dufy, D. L. and Vanderkolk, C. (1997) Application of transmission disequilibrium tests to nonsyndromic oral clefts: Including candidates genes and environmental exposures in the models. Am. J. Med. Genet. 73, 337-344.
8. Mitchell, L. E., Beaty, T. H., Lidral, A. C., Munger, R. G., Murray, J. C., Saal, H. M. and Wyszynski, D. F. (2002) Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: Summary report from a workshop of the international consortium for oral clefts genetics. Cleft Palate Craniofacial J. 39, 93-100.
9. Murray J. C. (1995) Face facts: genes, environment, and clefts. Am. J. Hum. Genet. 57, 227-232.
10. Murray, J. C. (2002) Gene/environment causes of cleft lip and/or palate. Clin. Genet. 61, 248-256.
11. Proetzel, G., Pawlowski, S. A., Wiles, M. V., Yin, M., Biovin, G. P., Howles, P. N., Ding, J., Ferguson, M. W. and Doetschman, T. (1995) Transforming growth factor-â3 is required for secondary palate fusion. Nat. Genet. 11, 409-414.
12. Romitti, P. A., Lidral, A. C., Munger, R. G., Daack-Hirsch, S., Burns, T. L. and Murray, J. C. (1999) Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: Evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts. Teratology 59, 39-50.
13. Sato, F., Natsume, N., Machida, J., Suzuki, S. and Kawai, T. (2001) Association between transforming growth factor beta 3 and cleft lip and/or palate in the Japanese population. Plast. Reconstr. Surg. 107, 1909-1910.
14. Taya, Y., OKane, S. and Ferguson, M. W. (1999) Pathogenesis of cleft palate in TGF-β3 knockout mice. Development 126, 3869-3879.
15. Yang, B., E. and Lee, J. H. (2001) Effects of TGF-β3 on epithelial-mesenchymal transformation and epidermal growth factor receptor expression in palatogenesis of chicken embryo. J. Korean Cleft Lip Palate Assoc. 4, 13-26.