Genetic and embryological approaches to studies of neural tube defects: A critical review

Neurological Research

Volumn 22, Issue 1, 2000, Pages 117-122

  George, Timothy M ^a   Speer, Marcy C ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Axis determination; Genetics; Mutant mouse models; Neural tube defect; Neurulation

Indexed keywords

EMBRYO AXIS; EMBRYO DEVELOPMENT; GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; MORPHOGENESIS; NEURAL TUBE DEFECT; PATHOGENESIS; PHENOTYPE; REVIEW;

EID: 0033978555     PISSN: 01616412     EISSN: None     Source Type: Journal    
DOI: 10.1080/01616412.2000.11741046     Document Type: Review

References (65)

1. CDC. Spina bifida incidence at birth - USA 1983-1990. Weekly Morbidity and Mortality Reports 1992; 41: 497-500
2. Tulipan N, Hernanz-Schulman M, Bruner JP. Reduced hindbrain herniation after intrauterine myelomeningocele repair: A report of four cases. Pediatr Neurosurg 1998; 29: 245-249
3. Copp AJ, Brook FA, Estibeiro JP, Shum ASW, Cockroft DL. The embryonic development of mammalian neural tube defects. Prog Neurobiol 1990; 35: 363-403
4. Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects. Morbidity and Mortality Weekly 1992; 41: 1-7
5. Elwood JM, Little J, Elwood JH. Epidemiology and Control of Neural Tube Defects, Oxford: Oxford University press, 1992: (GENERIC) Ref type: Serial (Book, Monograph)
6. Demenais F, Le Merrer M, Briard ML, Elston RC. Neural tube defects in France: Segregation analysis. Am J Med Genet 1982; 11: 287-298
7. Milunsky A, Jick H, Jick SS, Bruell CL, MacLaughlin DS, Rothman KJ, Willett W. Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. JAMA 1991; 262: 2847-2852
8. MRC Vitamin Study Research Group. Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study. Lancet 1991; 338: 131-137
9. Kirke PN, Mills JL, Whitehead AS, Molloy AM, Scott JM. Methylenetetrahydrofolate reductase mutations and neural tube deffects. Lancet 1996; 348: 1037-1038
10. van der Put NM, Steegers-Theunissen RPM, Frosst P, Trijbels FJM, Eskes TKAB, van den Heuvel LP, Mariman ECM, den Heyer M, Rozen R, Blom HJ. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995; 346: 1070-1071
11. Whitehead AS, Gallagher P, Mills JL, Kirke PN, Burke H, Molloy AM, Weir DG, Shields DC, Scott JM. A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects. Q J Med 1995; 88: 763-766
12. Of CY, Stevenson RF, Brown VK, Schwartz CE, Allen WP, Khoury M, Oakley GP, Adams MJ. V677T homozygosity associated with thermolabile 5,10-methylenetetrahydrofolate reductase as a risk factor for neural tube defects. Am J Hum Genet 1995; 57 (Suppl.): A223
13. Byrne J, Wharburton D. Neural tube defect in spontaneous abortions. Am J Med Genet 1986; 61: 171-173
14. Speer MC, Worley G, Mackey JF, Melvin E, Oakes WJ, George TM, NTD Collaborative Group. The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. Neurogenetics 1997; 1: 149-150
15. Seller MJ. Risks in spina bifida. Dev Med Child Neurol 1994; 36: 1021-1025
16. Main DM, Mennuti MT. Neural tube defects: Issues in prenatal diagnosis and counselling. Obstet Gynecol 1986; 67: 1-16
17. Robert E, Guibaud P. Maternal valproic acid and congenital neural tube defects. Lancet 1982; 2: 937
18. Lammer EJ, Sever LE, Oakley GP. Teratogen update: Valproic acid. Teratology 1987; 35: 465-473
19. Rosa FW. Spina bifida in infants of women treated with carbamazepine during pregnancy. N Engl J Med 1991; 324: 674-677
20. Werler MM, Louik C, Shapiro S, Mitchell AA. Prepregnant weight in relation to risk of neural tube defects. JAMA 1996; 275: 1089-1092
21. Shaw GM, Velie EM, Schaffer D. Risk of neural tube defect-affected pregnancies among obese women. JAMA 1996; 275: 1093-1096
22. Watkins ML, Scanlon KS, Mulinare J, Muin JK. Is maternal obesity a risk factor for anencephaly and spina bifida? Epidemiology 1996; 7: 507-512
23. Feineman RM, Jorde LB, Martin RA, Hasstedt SJ, Wing SD, Walker ML. Spinal dysraphia as an autosomal dominant defect in four families. Am J Med Genet 1982; 12: 457-464
24. Shaffer LG, Marazita ML, Bodurtha J, Newlin A, Nance WE. Evidence for a major gene in familial anencephaly. Am J Med Genet 1990; 36: 97-101
25. Chatkupt S, Speer MC, Ding Y, Thomas M, Stenroos ES, Dermody JJ, Koenigsberger MR, Ott J, Johnson WG. Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele. Am J Med Genet 1994; 52: 1-4
26. Fellous M, Boue J, Malbrunot C, Wollman E, Sasportes M, Van Cong N, Marcelli A, Rebourcet R, Hubert CH, Demenais F, Elston RC, Namboodiri KK, Kaplan EB. A five-generation family with sacral agenesis and spina bifida: Possible similarities with the mouse T-locus. Am J Med Genet 1982; 12: 465-487
27. Hume RF, Drugan A, Reichler A, Lampinen J, Martin LS, Johnson MP, Evans MI. Aneuploidy among prenatally detected neural tube defects. Am J Med Genet 1996; 61: 171-173
28. Munke M. Clinical cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. Am J Med Genet 1989; 34: 237-245
29. Gurdon JB. Embryonic induction-molecular prospects. Development 1987; 99: 285-306
30. Jessell TM, Melton ??. Diffusible factors in vertebrate embryonic induction. Cell 1992; 68: 257-270
31. Manley JL, Levine MS. The homeobox and mammalian development. Cell 1985; 43: 1-2
32. LaMantia AS, Colbert MC, Linney E. Induction and the generation of regional and cellular diversity in the developing mammalian brain. In: Juurlink, et al., eds. Neural Cell Specification: Molecular Mechanisms and Neurotherapeutic Implications, New York: Plenum Press, 1995: pp. 51-65
33. Schoenwolf GC, Smith JL. Mechanisms of neurulation: Traditional viewpoint and recent advances. Development 1990; 109: 234-270
34. Schoenwolf GC, De Longo J. Ultrastructure of secondary neurulation in the chick embryo. Am J Anat 1980; 158: 43-63
35. Catala M, Teilet M-A, De Robertis EM, Le Douarin NM. Spinal cord fate map in the avian embryo: While regressing, Hensen's node lays down the notochord and floor plate thus joining the spinal cord lateral walls. Development 1996; 122: 2599-2610
36. Catala M, Teilet M-A, Le Douarin NM. Organization and development of the tail bud analyzed with the quail-chick chimera system. Mech Develop 1995; 51: 51-65
37. Yamada T. Caudalization by the amphibian organizer: Brachyury, convergent extension and retinoic acid. Development 1994; 120: 3051-3062
38. Cooke J, Takada S, McMahon A. Experimental control of axial pattern in the chick blastoderm by local expression of Wnt and activin: The role of HNK-positive cells. Dev Biol 1994; 164: 513-527
39. Kispert A, Ortner H, Cooke J, Herrmann BG. The chick brachyury gene: Developmental expression pattern and response to axial induction by localized activin. Dev Biol 1995; 168: 406-415
40. Jacobson AG. Inductive processes in embryonic development. Science 1966; 152: 25-34
41. Knezevic V, Ranson M, Mackem S. The organizer-associated chick homeobox gene, Gnot 1, is expressed before gastrulation and regulated synergistically by activin and retinoic acid. Dev Bio 1995; 171: 458-470
42. Mitrani E, Gruenbaum Y, Shohat H, Ziv T. Fibroblast growth factor during mesoderm induction in the early chick embryo. Development 1990; 109: 387-393
43. Mitrani E, Shimoni Y. Retinoic acid inhibits growth in agarose of early chick embryonic cells and may be involved in regulation of axis formation. Development 1989; 107: 275-280
44. Menkes B, Sandor S. Researches on the development of axial organs. Rev Roum Embryol Cytol 1969; 6: 65-88
45. Ziv T, Shimoni Y, Mitrani E. Activin can generate ectopic axial structures in chick blastoderm explants. Development 1992; 115: 689-694
46. Storey KG, Crossley JM, De Robertis EM, Norris WE, Stern CD. Neural induction and regionalization in the chick embryo. Development 1992; 114: 729-741
47. Storey KG, Selleck MAJ, Stern CD. Neural induction and regionalisation by different subpopulations of cells in Hensen's node. Development 1995; 121: 417-428
48. Spemann H. Embryonic Development and Induction, New Haven, CT: Yale University Press, 1938
49. Maden M, Holder N. The involvement of retinoic acid in the development of the vertebrate central nervous system. Dev Supp 1991; 2: 87-94
50. McGinnis W, Krumlauf R. Homeobox genes and axial patterning. Cell 1992; 62: 283-302
51. Harris MJ, Juriloff DM. Genetic landmarks for defects in mouse neural tube closure. Teratology 1997; 56: 177-187
52. Epstein DJ, Malo D, Vekemans M, Gros P. Molecular characterization of a deletion encompassing the Splotch mutation in mouse chromosome 1. Genomics 1991; 10: 89-93
53. 2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 1991; 67: 767-774
54. Epstein DJ, Vogan KJ, Trasler DG, Gros P. A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant. Proc Natl Acad Sci USA 1993; 90: 532-536
55. Schimmang T, Lemaistre M, Vortkamp A, Ruther U. Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt). Development 1992; 116: 799-804
56. Wilson V, Rashbass P, Beddington RSP. Chimeric analysis of T (Brachyury) gene function. Development 1993; 117: 1321-1331
57. Morrison-Graham K, Schatteman GC, Bork T, Bowen-Pope DF, Weston JA. A PDGF receptor mutation in the mouse (Patch) perturbs the development of a non-neuronal subset of neural crest-derived cells. Development 1992; 115: 133-142
58. Homanics GE, Smith TJ, Zhang SH, Lee D, Young SG, Maeda N. Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice. Proc Natl Acad Sci USA 1993; 90: 2389-2393
59. Lufkin T, Dierich A, Lemeur M, Mark M, Chambon P. Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression. Cell 1991; 66: 1105-1119
60. Moase CE, Trasler DG. Splotch locus mouse mutants: Models for neural tube defects and Waardenburg syndrome type I in humans. J Med Genet 1992; 29: 145-151
61. Chatkupt SA, Chatkupt SU, Johnson WG. Waardenburg syndrome and myelomeningocele in a family. J Med Genet 1993; 30: 83-84
62. Hui C, Joyner AL. A mouse of greig cephalopolysyndactyly syndrome: The extra-toes mutation contains an intragenic delection of the Gli3 gene. Nat Genet 1993; 3: 241-246
63. Morrison K, Papapetrou C, Attwood J, Hol F, Lynch SA, Sampath A, Hamel B, Burn J, Sowden J, Stott D, Mariman E, Edwards YH. Genetic mapping of the human homologue (T) of the mouse T (Brachyury) and a search for allele association between human T and spina bifida. Hum Mol Genet 1996; 5: 669-674
64. Dickie MM. New splotch alleles in the mouse. J Heredity 1964; 55: 97-101
65. Chesley P. Development of the short-tailed mouse in the house mouse. J Exp Zool 1935; 70: 429-435