Promoter haplotype combinations of the platelet-derived growth factor α-receptor gene predispose to human neural tube defects (original) (raw)

• Dolk, H. et al. Heterogeneity of neural tube defects in Europe: the significance of site of defect and presence of other major anomalies in relation to geographic differences in prevalence. Teratology 44, 547–559 (1991).
  Article CAS Google Scholar
• Helwig, U. et al. Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. Nature Genet. 11, 60–63 (1995).
  Article CAS Google Scholar
• Payne, J., Shibasaki, F. & Mercola, M. Spina bifida occulta in homozygous Patch mouse embryos. Dev. Dyn. 209, 105–116 (1997).
  Article CAS Google Scholar
• Soriano, P. The PDGF α receptor is required for neural crest cell development and for normal patterning of the somites. Development 124, 2691–2700 (1997).
  CAS Google Scholar
• Joosten, P.H. et al. Altered regulation of platelet-derived growth factor receptor-α gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins. Proc. Natl. Acad. Sci. USA 95, 14459–14463 (1998).
  Article CAS Google Scholar
• Fleming, A. & Copp, A.J. A genetic risk factor for mouse neural tube defects: defining the embryonic basis. Hum. Mol. Genet. 9, 575–581 (2000).
  Article CAS Google Scholar
• Afink, G.B. et al. Molecular cloning and functional characterization of the human platelet-derived growth factor α receptor gene promoter. Oncogene 10, 1667–1672 (1995).
  CAS PubMed Google Scholar
• Zhang, X.Q. et al. Specific expression in mouse mesoderm- and neural crest-derived tissues of a human PDGFRA promoter/lacZ transgene. Mech. Dev. 70, 167–180 (1998).
  Article CAS Google Scholar
• Herrmann, S.M. et al. Polymorphisms in the genes encoding platelet-derived growth factor A and α receptor. J. Mol. Med. 78, 287–292 (2000).
  Article CAS Google Scholar
• Peters, H. et al. Pax1 and Pax9 synergistically regulate vertebral column development. Development 126, 5399–5408 (1999).
  CAS PubMed Google Scholar
• Wallin, J. et al. The role of Pax-1 in axial skeleton development. Development 120, 1109–1121 (1994).
  CAS PubMed Google Scholar
• Campbell, L.R., Dayton, D.H. & Sohal, G.S. Neural tube defects: a review of human and animal studies on the etiology of neural tube defects. Teratology 34, 171–187 (1986).
  Article CAS Google Scholar
• Barber, R.C. et al. Lack of association between mutations in the folate receptor-α gene and spina bifida. Am. J. Med. Genet. 76, 310–317 (1998).
  Article CAS Google Scholar
• Barber, R.C., Lammer, E.J., Shaw, G.M., Greer, K.A. & Finnell, R.H. The role of folate transport and metabolism in neural tube defect risk. Mol. Genet. Metab. 66, 1–9 (1999).
  Article CAS Google Scholar
• Copp, A.J. & Bernfield, M. Etiology and pathogenesis of human neural tube defects: insights from mouse models. Curr. Opin. Pediatr. 6, 624–631 (1994).
  Article CAS Google Scholar
• Boone, D., Parsons, D., Lachmann, S.M. & Sherwood, T. Spina bifida occulta: lesion or anomaly? Clin. Radiol. 36, 159–161 (1985).
  Article CAS Google Scholar
• Fidas, A. et al. Prevalence and patterns of spina bifida occulta in 2707 normal adults. Clin. Radiol. 38, 537–542 (1987).
  Article CAS Google Scholar
• Hol, F.A. et al. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. J. Med. Genet. 33, 655–660 (1996).
  Article CAS Google Scholar
• Kondo, T. & Raff, M. The Id4 HLH protein and the timing of oligodendrocyte differentiation. EMBO J. 19, 1998–2007 (2000).
  Article CAS Google Scholar
• Shimizu-Nishikawa, K., Tazawa, I., Uchiyama, K. & Yoshizato, K. Expression of helix-loop-helix type negative regulators of differentiation during limb regeneration in urodeles and anurans. Dev. Growth Differ. 41, 731–743 (1999).
  Article CAS Google Scholar
• Drysdale, C.M. et al. Complex promoter and coding region β 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc. Natl. Acad. Sci. USA 97, 10483–10488 (2000).
  Article CAS Google Scholar
• Wang, C. & Song, B. Cell-type-specific expression of the platelet-derived growth factor α receptor: a role for GATA-binding protein. Mol. Cell. Biol. 16, 712–723 (1996).
  Article CAS Google Scholar
• Epstein, J.A., Song, B., Lakkis, M. & Wang, C. Tumor-specific PAX3-FKHR transcription factor, but not PAX3, activates the platelet-derived growth factor alpha receptor. Mol. Cell. Biol. 18, 4118–4130 (1998).
  Article CAS Google Scholar
• Fukuoka, T., Kitami, Y., Okura, T. & Hiwada, K. Transcriptional regulation of the platelet-derived growth factor α receptor gene via CCAAT/enhancer-binding protein-δ in vascular smooth muscle cells. J. Biol. Chem. 274, 25576–25582 (1999).
  Article CAS Google Scholar
• Pirrotta, V. Transvection and chromosomal trans-interaction effects. Biochim. Biophys. Acta 1424, M1–M8 (1999).
  CAS PubMed Google Scholar
• Ashe, H.L., Monks, J., Wijgerde, M., Fraser, P. & Proudfoot, N.J. Intergenic transcription and transinduction of the human β-globin locus. Genes Dev. 11, 2494–2509 (1997).
  Article CAS Google Scholar
• Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, Plainview, NY, 1989).
• Rousset, F. & Raymond, M. Testing heterozygote excess and deficiency. Genetics 140, 1413–1419 (1995).
  CAS PubMed PubMed Central Google Scholar