The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephaly

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 88, Issue 2, 2010, Pages 76-83

  Burren, Katie A ^a   Scott, John M ^b   Copp, Andrew J ^a   Greene, Nicholas D E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

Curly tail; Diet; Exencephaly; Folic acid; Inositol; Neural tube defects

Indexed keywords

FOLIC ACID; HOMOCYSTEINE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; DIET; DISEASE PREDISPOSITION; EMBRYO; EMBRYO DEVELOPMENT; EMBRYO GROWTH; EXENCEPHALY; FEMALE; FOLIC ACID BLOOD LEVEL; FOLIC ACID DEFICIENCY; GENE INTERACTION; GENETIC ANALYSIS; MATERNAL BLOOD; MATERNAL WELFARE; MOUSE; NEURAL TUBE DEFECT; NONHUMAN; PRIORITY JOURNAL; STATISTICAL SIGNIFICANCE; WILD TYPE;

ANIMALS; DIET; DNA-BINDING PROTEINS; FEMALE; FOLIC ACID; FOLIC ACID DEFICIENCY; GENETIC PREDISPOSITION TO DISEASE; INOSITOL; MICE; MICE, TRANSGENIC; NEURAL TUBE DEFECTS; RISK FACTORS; TRANSCRIPTION FACTORS;

MUS;

EID: 76749128395     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20632     Document Type: Article

References (49)

1. Beaudin AE, Stover PJ. 2009. Insights into metabolic mechanisms underlying folate-responsive neural tube defects: a minireview. Birth Defects Res A Clin Mol Teratol 85:274-284.
2. Blom HJ, Shaw GM, Den Heijer M, et al. 2006. Neural tube defects and folate: case far from closed. Nat Rev Neurosci 7:724-731.
3. Boyles AL, Hammock P, Speer MC. 2005. Candidate gene analysis in human neural tube defects. Am J Med Genet C Semin Med Genet 135:9-23.
4. Brown NA. 1990. Routine assessment of morphology and growth: scoring systems and measurements of size. In: Copp AJ, Cockroft DL, editors. Postimplantation mammalian embryos: a practical approach. Oxford: IRL Press. pp. 93-108.
5. Burgoon JM, Selhub J, Nadeau M, et al. 2002. Investigation of the effects of folate deficiency on embryonic development through the establishment of a folate deficient mouse model. Teratology 65:219-227.
6. Burren KA, Savery D, Massa V, et al. 2008. Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function. Hum Mol Genet 17:3675-3685.
7. Chen W-H, Morriss-Kay GM, Copp AJ. 1994. Prevention of spinal neural tube defects in the curly tail mouse mutant by a specific effect of retinoic acid. Dev Dyn 199:93-102.
8. Cockroft DL, Brook FA, Copp AJ. 1992. Inositol deficiency increases the susceptibility to neural tube defects of genetically predisposed (curly tail) mouse embryos in vitro. Teratology 45:223-232.
9. Cogram P, Hynes A, Dunlevy LPE, et al. 2004. Specific isoforms of protein kinase C are essential for prevention of folate-resistant neural tube defects by inositol. Hum Mol Genet 13:7-14.
10. Copp AJ, Greene NDE, Murdoch JN. 2003. The genetic basis of mammalian neurulation. Nat Rev Genet 4:784-793.
11. Daly LE, Kirke PN, Molloy A, et al. 1995. Folate levels and neural tube defects: implications for prevention. JAMA 274:1698-1702.
12. Dunlevy LPE, Chitty LS, Doudney K, et al. 2007. Abnormal folate metabolism in foetuses affected by neural tube defects. Brain 130:1043-1049.
13. Fleming A, Copp AJ. 1998. Embryonic folate metabolism and mouse neural tube defects. Science 280:2107-2109.
14. Greene NDE, Copp AJ. 1997. Inositol prevents folate-resistant neural tube defects in the mouse. Nat Med 3:60-66.
15. Greene ND, Copp AJ. 2005. Mouse models of neural tube defects: investigating preventive mechanisms. Am J Med Genet C Semin Med Genet 135:31-41.
16. Greene ND, Copp AJ. 2009. Development of the vertebrate central nervous system: formation of the neural tube. Prenatal Diag 29:303-311.
17. Greene ND, Massa V, Copp AJ. 2009. Understanding the causes and prevention of neural tube defects: insights from the splotch mouse model. Birth Defects Res A Clin Mol Teratol 85:322-330.
18. Gustavsson P, Copp AJ, Greene ND. 2008. Grainyhead genes and mammalian neural tube closure. Birth Defects Res A Clin Mol Teratol 82:728-735.
19. Gustavsson P, Greene ND, Lad D, et al. 2007. Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model. Hum Mol Genet 16:2640-2646.
20. Harris MJ, Juriloff DM. 2005. Maternal diet alters exencephaly frequency in SELH/Bc strain mouse embryos. Birth Defects Res A Clin Mol Teratol 73:532-540.
21. Harris MJ, Juriloff DM. 2007. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Res A Clin Mol Teratol 79:187-210.
22. Heid MK, Bills ND, Hinrichs SH, et al. 1992. Folate deficiency alone does not produce neural tube defects in mice. J Nutr 122:888-894.
23. Juriloff DM, Gunn TM, Harris MJ, et al. 2001. Multifactorial genetics of exencephaly in SELH/Bc mice. Teratology 64:189-200.
24. Khandelwal M, Reece EA, Wu YK, et al. 1998. Dietary myo-inositol therapy in hyperglycemia-induced embryopathy. Teratology 57:79-84.
25. Kirke PN, Molloy AM, Daly LE, et al. 1993. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med 86:703-708.
26. Leino A. 1999. Fully automated measurement of total homocysteine in plasma and serum on the Abbott IMx analyzer. Clin Chem 45:569-571.
27. Letts VA, Schork NJ, Copp AJ, et al. 1995. A curly-tail modifier locus, mct1, on mouse chromosome 17. Genomics 29:719-724.
28. Li D, Pickell L, Liu Y, Rozen R. 2006. Impact of methylenetetrahydrofolate reductase deficiency and low dietary folate on the development of neural tube defects in splotch mice. Birth Defects Res A Clin Mol Teratol 76:55-59.
29. Mills JL, McPartlin JM, Kirke PN, et al. 1995. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 345:149-151.
30. Molloy AM, Brody LC, Mills JL, et al. 2009. The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects. Birth Defects Res A Clin Mol Teratol 85:285-294.
31. Molloy AM, Scott JM. 1997. Microbiological assay for serum, plasma, and red cell folate using cryopreserved, microtiter plate method. Methods Enzymol 281:43-53.
32. Neumann PE, Frankel WN, Letts VA, et al. 1994. Multifactorial inheritance of neural tube defects: localization of the major gene and recognition of modifiers in ct mutant mice. Nat Genet 6:357-362.
33. Oyama K, Sugimura Y, Murase T, et al. 2009. Folic acid prevents congenital malformations in the offspring of diabetic mice. Endocr J 56:29-37.
34. Piedrahita JA, Oetama B, Bennett GD, et al. 1999. Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic development. Nat Genet 23:228-232.
35. Reece EA, Khandelwal M, Wu YK, et al. 1997. Dietary intake of myo-inositol and neural tube defects in offspring of diabetic rats. Am J Obstet Gynecol 176:536-539.
36. Rong N, Selhub J, Goldin BR, et al. 1991. Bacterially synthesized folate in rat large intestine is incorporated into host tissue folyl polyglutamates. J Nutr 121:1955-1959.
37. Scott JM. 1999. Folate and vitamin B12. Proc Nutr Soc 58:441-448.
38. Seller MJ. 1994. Vitamins, folic acid and the cause and prevention of neural tube defects. In: Bock G, Marsh J, editors. Neural tube defects (Ciba Foundation Symposium 181). Chichester: John Wiley & Sons. pp. 161-173.
39. Seller MJ, Embury S, Polani PE, et al. 1979. Neural tube defects in curlytail mice. II. Effect of maternal administration of vitamin A. Proc R Soc Lond B 206:95-107.
40. Seller MJ, Perkins KJ. 1982. Prevention of neural tube defects in curly-tail mice by maternal administration of vitamin A. Prenatal Diag 2:297-300.
41. Seller MJ, Perkins KJ. 1983. Effect of hydroxyurea on neural tube defects in the curly-tail mouse. J Craniofac Genet Dev Biol 3:11-17.
42. Seller MJ, Perkins KJ. 1986. Effect of mitomycin C on the neural tube defects of the curly-tail mouse. Teratology 33:305-309.
43. Shaw GM, Schaffer D, Velie EM, et al. 1995. Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects. Epidemiology 6:219-226.
44. Spiegelstein O, Mitchell LE, Merriweather MY, et al. 2004. Embryonic development of folate binding protein-1 (Folbp1) knockout mice: effects of the chemical form, dose, and timing of maternal folate supplementation. Dev Dyn 231:221-231.
45. Ting SB, Wilanowski T, Auden A, et al. 2003. Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3. Nat Med 9:1513-1519.
46. Tran P, Hiou-Tim F, Frosst P, et al. 2002. The curly-tail (ct) mouse, an animal model of neural tube defects, displays altered homocysteine metabolism without folate responsiveness or a defect in Mthfr. Mol Genet Metab 76:297-304.
47. Van Straaten HWM, Copp AJ. 2001. Curly tail: a 50-year history of the mouse spina bifida model. Anat Embryol 203:225-237.
48. Wlodarczyk BJ, Tang LS, Triplett A, et al. 2006. Spontaneous neural tube defects in splotch mice supplemented with selected micronutrients. Toxicol Appl Pharmacol 213:55-63.
49. Yu Z, Lin KK, Bhandari A, et al. 2006. The Grainyhead-like epithelial transactivator Get-1/Grhl3 regulates epidermal terminal differentiation and interacts functionally with LMO4. Dev Biol 299:122-136.