Issue

Vol. 64 No. 15: Issue 15

The undersigned hereby assign all rights, included but not limited to copyright, for this manuscript to CMB Association upon its submission for consideration to publication on Cellular and Molecular Biology. The rights assigned include, but are not limited to, the sole and exclusive rights to license, sell, subsequently assign, derive, distribute, display and reproduce this manuscript, in whole or in part, in any format, electronic or otherwise, including those in existence at the time this agreement was signed. The authors hereby warrant that they have not granted or assigned, and shall not grant or assign, the aforementioned rights to any other person, firm, organization, or other entity. All rights are automatically restored to authors if this manuscript is not accepted for publication.

Studying the C1772T polymorphism of Hif-1α and TGF-β3 IVS5+104 A/G polymorphism in children with congenital non-syndromic neural tube defects and their mothers

https://doi.org/10.14715/cmb/2017.64.15.15
ć°brahim Halil Yildirim
Department of Genetics, Faculty of Veterinary, Dicle University, Diyarbakır, Türkiye
Nadir Koçak
Department of Medical Genetics, Faculty of Medicine, Selçuk University, Konya, Türkiye

Corresponding Author(s) : ć°brahim Halil Yildirim

ihyildirim@gmail.com

Cellular and Molecular Biology, Vol. 64 No. 15: Issue 15

Abstract

Prevalence of neural tube defect (NTD) has reduced after folic acid intake. However; which mechanisms are effective in NTD are not known exactly. In this study; due to the possible effects on hypoxic pathway and embryonic development, particularly on extracellular matrix components, Hif-1α Pro582Ser and TGF-β3 IVS5+104 A/G SfaN1 polymorphisms were studied by PCR-RFLP method both on children with NTDs and mothers. Statistical differences were seen for Hif-1α and TGF-β3 IVS5+104 A/G SfaN1 polymorphisms in children with NTDs but no difference was seen in mothers. Both genes are effective on many pathways and our results suggest that regulation of extracellular matrix components of children during fetal life is important in neural tube defects formation. The results of this study show that Hif-1α Pro582Ser and TGF-β3 IVS5+104 A/G SfaN1 polymorphisms may play a role in NTDs.

Keywords

NTD Hypoxia Hif-1α TGF-β3 SfaN1.
Yildirim, ć°brahim H., & Koçak, N. (2018). Studying the C1772T polymorphism of Hif-1α and TGF-β3 IVS5+104 A/G polymorphism in children with congenital non-syndromic neural tube defects and their mothers. Cellular and Molecular Biology, 64(15), 90–93. https://doi.org/10.14715/cmb/2017.64.15.15
Download Citation
Endnote/Zotero/Mendeley (RIS)
BibTeX
References
  1. - Zaganjor I, Sekkarie A, Tsang BL, Williams J, Razzaghi H, Mulinare J, et al. Describing the prevalence of neural tube defects worldwide: a systematic literatüre review. PLoS One. 2016; 11(4): e0151586.
  2. - Imbard A, Benoist JF and Blom HJ. Neural tube defects, folic acid and methylation, Int J Environ Public Health. 2013; 10(9):4352-89.
  3. - Finell RH, Greer KA. Barber RC, Piedrahita JA, Shaw GM, Lammer EJ. Neural tube and craniofacial defects with special emphasis on folate pathway genes. Crit Rev Oral Biol med 1998; 9:38-53.
  4. - Harris Mj. Why are the genes that cause risk of human neural tube defects so hard to find ? Teratology 2001; 63:165-166.
  5. - Shaw GM, Lammer EJ, Zhu H, Baker MW, Neri E, Finell RH. Maternal periconceptional vitamine use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet 2002:108:1-6.
  6. - Iyer NV, Kotch LE, Agani F, Leung SW, Laughner E, Wenger RH, et al. Cellular and developmental control of O2 homeostasis by hypoxia- inducible factor 1lphaa. Genes Dev 1998; 12:149–162.
  7. - Morriss GM, New DA. Effect of oxygen concentration on morphogenesis of cranial neural folds and neural crest in cultured rat embryos. J Embryol Exp Morphol 1979; 54:17–35.
  8. - Ryan HE, Lo J, Johnson RS. HIF-1a is required for solid tumor formation and embryonic vascularization. EMBO J 1998; 17:3005–15.
  9. - Weil M, Jacobson MD, Raff MC. Is programmed cell death required for neural tube closure? Curr Biol 1997; 7:281–284.
  10. - Phelan SA, Ito M, Loeken MR. Neural tube defets in embryos of diabetic mice: role of the Pax-3 gene and apoptosis. Diabetes 1997; 46:1189–97.
  11. - Harris MJ, Juriloff DM. Genetic landmarks for defects in Mouse neural tube closure. Teratology 1997; 56:177–187.
  12. - Berk M, Desai SY, Heyman HC, Colmenares C. Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. Genes Dev 1997; 11:2029–39.
  13. - Zhao Q, Behringer RR, de Crombrugghe B. Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. Nat Genet 1996; 13:275–283.
  14. - Sah VP, Attardi LD, Mulligan GJ, Williams BO, Bronson RT, Jacks T. A subset of p53-deficient embryos exhibits exencephaly. Nat Genet 1995; 10:175–180.
  15. - Kozak KR, Abbott B, Hankinson O. ARNT-deficient mice and placental differentiation. Dev Biol 1997; 191:297–305.
  16. - Wenger RH, Gassmann M. Oxygen(es) and the hypoxiainducible factor-1. Biol Chem 1997; 378:609–616.
  17. - Caniggia I, Mostachfi H, Winter J, Gassmann M, Lye SJ, Kuliszewski M, et al.. Hypoxia-inducible factor-1 mediates the biological effects of oxygen on human trophoblast differentiation through TGF- β3. J Clin Invest 2000; 105:577–587.
  18. - Kaartien V, Voncken JW, Shuler C, Warburton D, Bu D, Heisterkamp N, et al. Abnormal lung development and cleft palate in mice lacking TGF-beta3 indicates defects of epithelial-mesenchymal interaction. Nat gen 1995; 11:415-421.
  19. - Nikitovic D, Zafiropoulos A, Katonis P, Tsatsakis A, Theocharis AD, Karamanos NK, et al. Transforming growth factor- β3 as a key molecule triggering the expression of versican isoforms V0 and V1, hyaluronan synthase-2 and synthesis of hyaluronan in malignant osteosarcoma cells. IUBMB Life 2006; 58:47-53.
  20. - Fransen K, Fenech M, Fredrikson M, Dabrosin C, Söderkvist P. Association between ulcerative growth and hypoxia inducible factor-1alpha polymorphisms in colorectal cancer patients. Mol Carcinog. 2006; 45:833-840.
  21. - Kim MH, Kim HJ, Choi JY, Nahm DS, Transforming frowth factor- β3 gene SfaN1 polymorphism in Korean nonsyndromic cleft lip and palate patients. J Biochem Mol Biol. 2003; 36:533-537.
  22. - Semenza GL. Expression of hypoxia-inducible factor 1: mechanisms and consequences. Biochem. Pharmacol. 2000; 59: 47–53.
  23. - Semenza, G.L.,Wang, G.L. A nuclear factor induced by hypoxia via de novo protein synthesis binds to the human erythropoietin gene at a site required for transcriptional activation. Mol. Cell. Biol. 1992; 12:5447–54.
  24. - Wang GL, Semenza GL, Characterization of hypoxia-inducible factor 1 and regulation of DNA binding activity by hypoxia. J Biol Chem. 1993;268(29):21513-18.
  25. - Bruick RK, McKnight SL, A conserved family of prolyl-4-hydroxylases that modify HIF. Science 2001; 294:1337–40.
  26. - Lando D, Peet DJ, Whelan DA, Gorman JJ, Whitelaw ML. Asparagine hydroxylation of the HIF transactivation domain: a hypoxic switch. Science 2002; 295; 858–861.
  27. - Tanimoto K, Yoshiga K, Eguchi H, Kaneyasu M, Ukon K, Kumazaki T, et al. Hypoxia-inducible factor-1α polymorphisms associated with enhanced transactivation capacity, implying clinical significance. Carcinogenesis, 2003; 24:1779-83.
  28. - Hosper NA, Bank R, van den Berg P, Human amniotic fluid-derived mesenchymal cells from fetuses with a NTD do not deposit collagen type I protein after TGF-beta stimulation in vitro, Stem Cells Dev. 2014; 23:555-562.
  29. - Caniggia I, Grisaru-Gravnosky S, Kuliszewsky M, Post M, Lye SJ. Inhibition of TGF-β3 restores the invasive capability of extravillous trophoblasts in preeclamptic pregnancies. J Clin Invest 1999; 103):164
Read More
Author biographies is not available.
Crossref
Scopus
Google Scholar
Europe PMC
Download this PDF file
PDF
Statistic
Read Counter : 714 Download : 407