Analysis of the candidate genes responsible for non-syndromic cleft lip and palate in Japanese people

Clinical Science

Volumn 99, Issue 2, 2000, Pages 105-111

  Tanabe, Atsuko ^a   Taketani, Shigeru ^a   Endo Ichikawa, Yoko ^a   Tokunaga, Rikio ^a   Ogawa, Yutaka ^a   Hiramoto, Michiaki ^b  

^a KANSAI MEDICAL UNIVERSITY   (Japan)

^b SAISEIKAI NAKATSU HOSPITAL   (Japan)

Author keywords

Cleft lip; Cleft palate; TGF ; TGF variants

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; TRANSFORMING GROWTH FACTOR ALPHA; TRANSFORMING GROWTH FACTOR BETA;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLEFT LIP; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; GENE FREQUENCY; HUMAN; HUMAN CELL; INFANT; JAPAN; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0033854334     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/cs0990105     Document Type: Article

References (36)

1. 1 Tyer, M. S. and Koch, W. E. (1975) In vitro development of palatal tissue from embryonic mice. 1. Differentiation of the secondary palate from 12 day mouse embryos. Anat. Rec. 182, 297-304
2. K in developing mouse palates using monoclonal antibody. J. Embryol. Exp. Morphol. 70, 45-60
3. 3 Melnick, M. and Shields, E. D. (1982) Clinical dysmorphology of oral-facial structures. In Cleft Lip and Palate (Melnick, M., Shields, E. D. and Burzynski, N. J., eds.), pp. 360-372, John Wright-PSG, Inc., Boston
4. 4 Dixon, M. J., Garner, J. and Ferguson, M. W. J. (1991) Immunolocalization of epidermal growth factor (EGF), EGF receptor and transforming growth factor alpha (TGFα) during murine palatogenesis in vivo and in vitro. Anat. Embryol. 184, 83-91
5. 5 Lee, D. C., Rochford, R., Todaro, G. J. and Villarreal, L. P. (1985) Developmental expression of rat transforming growth factor-α mRNA. Mol. Cell. Biol. 5, 3644-3646
6. 6 Sandgren, E. P., Luetteke, N. C., Palmiter, R. D., Brinster, R. L. and Lee, D. C. (1990) Over expression of TGFα in transgenic mice: induction of epithelial hyperplasia, pancreatic metaplasia, and carcinoma of the breast. Cell 61, 1121-1135
7. 7 Gehris, A. L. and Green, R. M. (1992) Regulation of murine embryonic epithelial cell differentiation by transforming growth factors β. Differentiation 49, 167-173
8. 8 Fitzpatrick, D., Denhez, F., Kondaiah, P. and Akhurst, R. (1990) Differential expression of TGFβ isoform in murine palatogenesis. Development 109, 585-595
9. 9 Gehris, A. L., D'Angelo, M. and Greene, R. (1991) Immunodetection of the transforming growth factor-β1 and β2 in the developing palate. Int. J. Biol. 35, 17-24
10. 10 Fitzpatrick, D., Abott, B. and Akhurst, R. (1992) Palatal expression of TGF-β isoforms in retinoic acid-treated mouse embryos. In Retinoids in Normal Development and Teratogenesis (Morris-Kay, G., ed.), pp. 148-164, Oxford University Press, Oxford
11. 11 Proetzel, G., Pawlowski, S. A., Wiles, M. V. et al. (1995) Transforming growth factor-β3 is required for secondary palate fusion. Nat. Genet. 11, 409-414
12. 12 Kaartinen, V., Voncken, J. W., Shuler, C. et al. (1995) Abnormal lung development and cleft palate in mice lacking TGF-β3 indicates defects of epithelial-mesenchymal interaction. Nat. Genet. 11, 415-421
13. 13 Sanford, L. P., Ormsby, I., Gittenberger-de Groot, A. C. et al. (1997) TGFβ2 knockout mice have multiple developmental defects that arc nonoverlapping with other TGFβ knockout phenotypes. Development 124, 2659-2670
14. A receptor γ3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Hum. Mol. Genet. 1, 67
15. 15 Culiat, C.T., Stubuss, L. J., Nicholls, R. D. et al. (1993) Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the β3 subunit of the type A γ-aminobutyric acid receptor. Proc. Natl. Acad. Sci. U.S.A. 90, 5105-5109
16. 16 Culiat, C. T., Stubbs, L. J., Woychick, R. P., Russell, L. B., Johnson, D. K. and Rinchick, E. M. (1995) Deficiency of the β3 subunit of the type A γ-aminobutyric acid receptor causes cleft palate in mice. Nat. Genet. 11, 344-346
17. 17 Wee, E. L., Norman, E. J. and Zimmerman, E. F. (1986) Presence of GABA in embryonic palates of AJ and SWV mouse strains. J. Craniofacial Genet. Dev. Biol. 6, 53-61
18. 18 Homanics, G. E., Delorey, T. M., Firestone, L. L. et al. (1997) Mice development of γ-aminobutyrate type A receptor β3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc. Natl. Acad. Sci. U.S.A. 94, 4143-4148
19. 19 Ardinger, H. H., Buetow, K. H., Bell, G. I., Bardach, J., Van Demark, D. R. and Murray, J. C. (1989) Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am. J. Hum. Genet. 45, 348-353
20. 20 Shiang, R., Lidral, A. C., Ardinger, H. H. et al. (1993) Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). Am. J. Hum. Genet. 53, 836-843
21. 21 Stoll, C., Qian, J. F., Feingold, J., Sauvage, P. and May, E. (1992) Genetic variation in transforming growth factor alpha: possible association of BamHI polymorphism with bilateral sporadic cleft lip and palate. Am. J. Hum. Genet. 50, 870-871
22. 22 Lidral, A. C., Murray, J. C., Buetow, K. H. et al. (1997) Studies of the candidate genes TGFβ2, MSX1, TGFα, and TGFβ3 in the etiology of cleft lip and palate in the Philippines. Cleft Palate Craniofacial J. 34, 1-6
23. 23 Qian, J. F., Lazar-Wesley, E., Breugnot, C. and May, E. (1993) Human transforming growth factor alpha: sequence analysis of the 4.5-kb and 1.6-kb mRNA species. Gene 132, 291-296
24. 24 Nishimura, D. Y., Purchio, A. F. and Murray, J. C. (1993) Linkage localization of TGFβ2 and the human homeobox gene HLX1 to chromosome 1q. Genomics 15, 357-364
25. 25 Madisen, L., Webb, N. R., Rose, T. M. et al. (1988) Transforming growth factor-β2: cDNA cloning and sequence analysis. DNA 7, 1-8
26. 26 ten Dijke, P., Hansen, P., Iwata, K. K., Pieler, C. and Foulkes, J. G. (1988) Identification of another member of the transforming growth factor type beta gene family. Proc. Natl. Acad. Sci. U.S.A. 85, 4715-4719
27. A receptor β subunit heterogeneity: functional expression of cloned cDNAs. EMBO J. 8, 1665-1670
28. 28 Hwang, S.-J., Beaty, T. H., Panny, S. R. et al. (1995) Association study of transforming growth factor alpha (TGFα) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects. Am. J. Epidemiol. 141, 629-636
29. 29 Fraser, F. C. (1970) The genetics of cleft lip and cleft palate. Am. J. Hum. Genet. 22, 336-352
30. 30 Ferguson, M. W. J. (1987) Palate development: mechanism and malformations. Ir. J. Med. Sci. 156, 309-315
31. 31 Ferguson, M. W. J. (1988) Palate development. Dev. Suppl. 103, 41-60
32. 32 Harkins, C. S., Berlin, A., Harding, R. L., Longace, J. J. and Snodgrasse, R. M. (1962) A classification of cleft lip and palate. Plast. Reconstr. Surg. 29, 31-39
33. 33 Kernahan, D. A. and Stark, R. B. (1958) A new classification for cleft lip and cleft palate. Plast. Reconstr. Surg. 22, 435-441
34. 34 Jara, L., Blanco, R., Chiffelle, I., Palomio, H. and Carreno, H. (1995) Evidence for an association between RFLPs at the transforming growth factor alpha (locus) and nonsyndromic cleft lip/palate in a South American population. Am. J. Hum. Genet. 56, 339-341
35. 35 Hecht, J. T., Wang, Y., Blanton, S. H., Michels, V. V. and Daiger, S. P. (1991) Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am. J. Hum. Genet. 49, 682-686
36. 36 Egger, B., Procaccino, F., Lakshmanan, J. et al. (1997) Mice lacking transforming growth factor alpha have an increased susceptibility to dextran sulfate-induced colitis. Gastroenterology 113, 825-832