Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice

Proceedings of the National Academy of Sciences of the United States of America

Volumn 110, Issue 2, 2013, Pages 549-554

  Momb, Jessica ^a   Lewandowski, Jordan P ^a   Bryant, Joshua D ^a   Fitch, Rebecca ^b   Surman, Deborah R ^a   Vokes, Steven A ^a   Appling, Dean R ^a  

^a UNIVERSITY OF TEXAS AT AUSTIN   (United States)

^b UNIVERSITY OF TEXAS AT AUSTIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

10 FORMYL TETRAHYDROFOLATE SYNTHETASE; CARBON; FOLIC ACID; FORMATE SODIUM; FORMIC ACID; METHYLENETETRAHYDROFOLATE DEHYDROGENASE; SODIUM; SYNTHETASE; TETRAHYDROFOLIC ACID; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BIRTH DEFECT; BRAIN DEVELOPMENT; BRAIN REGION; CATALYSIS; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; CYTOPLASM; DIET SUPPLEMENTATION; EMBRYO; EMBRYO DEVELOPMENT; EXENCEPHALY; FEEDING; GENE DELETION; GENE EXPRESSION; GENETIC RISK; LETHALITY; LIMB BUD; MAMMAL; MOUSE; NEURAL TUBE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; AMINOHYDROLASES; ANIMALS; CRANIOFACIAL ABNORMALITIES; DNA PRIMERS; EMBRYONIC DEVELOPMENT; FORMATE-TETRAHYDROFOLATE LIGASE; FORMATES; GENE DELETION; GENOTYPE; IMMUNOBLOTTING; METABOLIC NETWORKS AND PATHWAYS; METHYLENETETRAHYDROFOLATE DEHYDROGENASE (NADP); MICE; MICE, KNOCKOUT; MULTIENZYME COMPLEXES; NEURAL TUBE DEFECTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

MAMMALIA; MUS;

EID: 84872183363     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1211199110     Document Type: Article

References (39)

1. Hibbard ED, Smithells RW (1965) Folic acid metabolism and human embryopathy. Lancet 1(7398):1254.
2. Ross ME (2010) Gene-environment interactions, folate metabolism and the embryonic nervous system. Wiley Interdiscip Rev Syst Biol Med 2(4):471-480.
3. Hobbs CA, Shaw GM, Werler MM, Mosley B (2010) Folate status and birth defect risk. Epidemiological perspective. Folate in Health and Disease, ed Bailey LB (CRC Press, Taylor & Francis Group, Boca Raton, FL), 2nd ed, pp 133-153.
4. Tibbetts AS, Appling DR (2010) Compartmentalization of mammalian folate-mediated one-carbon metabolism. Annu Rev Nutr 30:57-81.
5. Mejia NR, MacKenzie RE (1988) NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase in transformed cells is a mitochondrial enzyme. Biochem Biophys Res Commun 155(1):1-6.
6. Mejia NR, MacKenzie RE (1985) NAD-dependent methylenetetrahydrofolate dehydrogenase is expressed by immortal cells. J Biol Chem 260(27):14616-14620.
7. Barlowe CK, Appling DR (1988) In vitro evidence for the involvement of mitochondrial folate metabolism in the supply of cytoplasmic one-carbon units. Biofactors 1(2):171-176.
8. Bolusani S, et al. (2011) Mammalian MTHFD2L encodes a mitochondrial methylenetetrahydrofolate dehydrogenase isozyme expressed in adult tissues. J Biol Chem 286(7):5166-5174.
9. Prasannan P, Pike S, Peng K, Shane B, Appling DR (2003) Human mitochondrial C1-tetrahydrofolate synthase: Gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls. J Biol Chem 278(44):43178-43187.
10. Walkup AS, Appling DR (2005) Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase. Arch Biochem Biophys 442(2):196-205.
11. Prasannan P, Appling DR (2009) Human mitochondrial C1-tetrahydrofolate synthase: Submitochondrial localization of the full-length enzyme and characterization of a short isoform. Arch Biochem Biophys 481(1):86-93.
12. Pike ST, Rajendra R, Artzt K, Appling DR (2010) Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial one-carbon units into the methyl cycle in embryos. J Biol Chem 285(7):4612-4620.
13. Parle-McDermott A, et al. (2009) A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency. Hum Mutat 30(12):1650-1656.
14. Lakso M, et al. (1996) Efficient in vivo manipulation of mouse genomic sequences at the zygote stage. Proc Natl Acad Sci USA 93(12):5860-5865.
15. 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(3):187-210.
16. Harris MJ, Juriloff DM (2010) An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure. Birth Defects Res A Clin Mol Teratol 88(8):653-669.
17. Spiegelstein O, 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(1):221-231.
18. Beaudin AE, et al. (2011) Shmt1 and de novo thymidylate biosynthesis underlie folateresponsive neural tube defects in mice. Am J Clin Nutr 93(4):789-798.
19. Beaudin AE, et al. (2012) Dietary folate, but not choline, modifies neural tube defect risk in Shmt1 knockout mice. Am J Clin Nutr 95(1):109-114.
20. Narisawa A, et al. (2012) Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Hum Mol Genet 21(7):1496-1503.
21. Zhou X, Anderson KV (2010) Development of head organizer of the mouse embryo depends on a high level of mitochondrial metabolism. Dev Biol 344(1):185-195.
22. Beaudin AE, Perry CA, Stabler SP, Allen RH, Stover PJ (2012) Maternal Mthfd1 disruption impairs fetal growth but does not cause neural tube defects in mice. Am J Clin Nutr 95(4):882-891.
23. Christensen KE, Mackenzie RE (2008) Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases. Vitam Horm 79:393-410.
24. Di Pietro E, Sirois J, Tremblay ML, MacKenzie RE (2002) Mitochondrial NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase is essential for embryonic development. Mol Cell Biol 22(12):4158-4166.
25. Herbert V, Zalusky R (1962) Interrelations of vitamin B12 and folic acid metabolism: folic acid clearance studies. J Clin Invest 41:1263-1276.
26. MacFarlane AJ, et al. (2008) Cytoplasmic serine hydroxymethyltransferase regulates the metabolic partitioning of methylenetetrahydrofolate but is not essential in mice. J Biol Chem 283(38):25846-25853.
27. Bai S, et al. (2005) DNA methyltransferase 3b regulates nerve growth factor-induced differentiation of PC12 cells by recruiting histone deacetylase 2. Mol Cell Biol 25(2):751-766.
28. Kobayakawa S, Miike K, Nakao M, Abe K (2007) Dynamic changes in the epigenomic state and nuclear organization of differentiating mouse embryonic stem cells. Genes Cells 12(4):447-460.
29. Horswill MA, Narayan M, Warejcka DJ, Cirillo LA, Twining SS (2008) Epigenetic silencing of maspin expression occurs early in the conversion of keratocytes to fibroblasts. Exp Eye Res 86(4):586-600.
30. Borgel J, et al. (2010) Targets and dynamics of promoter DNA methylation during early mouse development. Nat Genet 42(12):1093-1100.
31. Dunlevy LP, et al. (2006) Integrity of the methylation cycle is essential for mammalian neural tube closure. Birth Defects Res A Clin Mol Teratol 76(7):544-552.
32. Okano M, Bell DW, Haber DA, Li E (1999) DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99(3):247-257.
33. Chang H, et al. (2011) Tissue-specific distribution of aberrant DNA methylation associated with maternal low-folate status in human neural tube defects. J Nutr Biochem 22(12):1172-1177.
34. Coelho CN, Klein NW (1990) Methionine and neural tube closure in cultured rat embryos: morphological and biochemical analyses. Teratology 42(4):437-451.
35. Moephuli SR, Klein NW, Baldwin MT, Krider HM (1997) Effects of methionine on the cytoplasmic distribution of actin and tubulin during neural tube closure in rat embryos. Proc Natl Acad Sci USA 94(2):543-548.
36. Copp AJ, Greene ND, Murdoch JN (2003) The genetic basis of mammalian neurulation. Nat Rev Genet 4(10):784-793.
37. Stratman JL, Barnes WM, Simon TC (2003) Universal PCR genotyping assay that achieves single copy sensitivity with any primer pair. Transgenic Res 12(4):521-522.
38. Whiting J, et al. (1991) Multiple spatially specific enhancers are required to reconstruct the pattern of Hox-2.6 gene expression. Genes Dev 5(11):2048-2059.
39. Green EL, ed (1966) Biology of the Laboratory Mouse (Dover Publications, Inc., New York), 2nd ed, p 706.