Association of retinoic acid receptor genes with meningomyelocele

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 91, Issue 1, 2011, Pages 39-43

  Tran, Phong X ^a   Au, Kit Sing ^a   Morrison, Alanna C ^b   Fletcher, Jack M ^c   Ostermaier, Kathryn K ^d   Tyerman, Gayle H ^e   Northrup, Hope ^a,f  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^c UNIVERSITY OF HOUSTON   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e SHRINERS HOSPITALS FOR CHILDREN   (United States)

^f Shriners Hospital for Children   (United States)

Author keywords

Association studies; Meningomyocele; Retinoic acid receptor genes; Single nucleotide polymorphisms (SNPs)

Indexed keywords

RETINOIC ACID; RETINOIC ACID RECEPTOR;

ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MENINGOMYELOCELE; NEURAL TUBE DEFECT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RARA GENE; RARB GENE; RARG GENE; RECEPTOR GENE; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TERATOGENICITY;

ALLELES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HISPANIC AMERICANS; HUMANS; MALE; MENINGOMYELOCELE; NEURAL TUBE DEFECTS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, RETINOIC ACID;

RODENTIA;

EID: 78751553299     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20744     Document Type: Article

References (28)

1. Abu-Abed S, Dolle P, Metzger D, et al. 2001. The retinoic acid-metabolizing enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures Genes Dev 15(2): 226-240.
2. Abu-Abed S, Dolle P, Metzger D, et al. 2003. Developing with lethal RA levels: genetic ablation of Rarg can restore the viability of mice lacking Cyp26a1. Development 130(7): 1449-1459.
3. Au KS, Tran PX, Tsai CC, et al. 2008. Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals. Birth Defects Res A Clin Mol Teratol 82(10): 692-700.
4. Barrett JC, Fry B, Maller J, et al. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2): 263-265.
5. Chen WH, 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(2): 93-102.
6. Chen WH, Morriss-Kay GM, Copp AJ. 1995. Genesis and prevention of spinal neural tube defects in the curly tail mutant mouse: involvement of retinoic acid and its nuclear receptors RAR-beta and RAR-gamma. Development 121(3): 681-691.
7. Copp AJ, Greene ND. 2010. Genetics and development of neural tube defects. J Pathol 220(2): 217-230.
8. Danzer E, Schwarz U, Wehrli S, et al. 2005. Retinoic acid induced myelomeningocele in fetal rats: characterization by histopathological analysis and magnetic resonance imaging. Exp Neurol 194(2): 467-475.
9. Davidson CM, Northrup H, King TM, et al. 2008. Genes in glucose metabolism and association with spina bifida. Reprod Sci 15(1): 51-58.
10. Deak KL, Dickerson ME, Linney E, et al., NTD Collaborative Group. Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. Birth Defects Res A Clin Mol Teratol. 2005 Nov; 73(11):868-75. Pub Med PMID: 16237707.
11. Desmet FO, Hamroun D, Lalande M, et al. 2009. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37(9): e67.
12. Fletcher JM, Copeland K, Frederick JA, et al. 2005. Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity. J Neurosurg 102(3 suppl): 268-279.
13. Greene ND, Stanier P, Copp AJ. 2009. Genetics of human neural tube defects. Hum Mol Genet 18(R2): R113-129.
14. 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.
15. Juriloff DM, Harris MJ. 2000. Mouse models for neural tube closure defects. Hum Mol Genet 9(6): 993-1000.
16. Leroy P, Krust A, Zelent A, et al. 1991. Multiple isoforms of the mouse retinoic acid receptor alpha are generated by alternative splicing and differential induction by retinoic acid. EMBO J 10(1): 59-69.
17. Lohnes D, Kastner P, Dierich A, et al. 1993. Function of retinoic acid receptor gamma in the mouse. Cell 73(4): 643-658.
18. Maden M. 2006. Retinoids and spinal cord development. J Neurobiol 66(7): 726-738.
19. Mao GE, Collins MD. 2002. Quantification and localization of expression of the retinoic acid receptor-beta and -gamma mRNA isoforms during neurulation in mouse embryos with or without spina bifida. Teratology 66(6): 331-343.
20. Mark M, Ghyselinck NB, Chambon P. 2009. Function of retinoic acid receptors during embryonic development. Nucl Recept Signal 7: e002.
21. Martinez CA, Northrup H, Lin JI, et al. 2009. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol 201(4): 394 e391-311.
22. Matt N, Ghyselinck NB, Wendling O, et al. 2003. Retinoic acid-induced developmental defects are mediated by RARbeta/RXR heterodimers in the pharyngeal endoderm. Development 130(10): 2083-2093.
23. Purcell S, Neale B, Todd-Brown K, et al. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81(3): 559-575.
24. Quemelo PR, Lourenco CM, Peres LC. 2007. Teratogenic effect of retinoic acid in Swiss mice. Acta Cir Bras 22(6): 451-456.
25. Rat E, Billaut-Laden I, Allorge D, et al. 2006. Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida. Birth Defects Res A Clin Mol Teratol 76(6): 491-498.
26. Tobler AR, Short S, Andersen MR, et al. 2005. The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping. J Biomol Tech 16(4): 398-406.
27. Wilson L, Gale E, Maden M. 2003. The role of retinoic acid in the morphogenesis of the neural tube. J Anat 203(4): 357-368.
28. Zechel C.2005.Requirement of retinoic acid receptor isotypes alpha, beta, and gamma during the initial steps of neural differentiation of PCC7 cells.Mol Endocrinol19(6):1629-1645.