Loss of function polymorphisms in NAT1 protect against spina bifida

Human Genetics

Volumn 120, Issue 1, 2006, Pages 52-57

  Jensen, Liselotte E ^a   Hoess, Karen ^a   Mitchell, Laura E ^b   Whitehead, Alexander S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; ADENINE; AROMATIC AMINE; CYTOSINE; FOLIC ACID; GUANINE; HETEROCYCLIC AMINE; THYMINE;

ACETYLATION; ALLELE; ARTICLE; CATABOLISM; CHILD; CONTROLLED STUDY; EMBRYO DEVELOPMENT; ENZYME ACTIVITY; ENZYME POLYMORPHISM; FATHER; FEMALE; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LOGLINEAR MODEL; MAJOR CLINICAL STUDY; MALE; MATING; MOTHER; NUCLEOTIDE SEQUENCE; PARENT; PRIORITY JOURNAL; PROGENY; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SPINA BIFIDA; STATISTICAL ANALYSIS; VERTICAL TRANSMISSION; VITAMIN SUPPLEMENTATION;

ADULT; ARYLAMINE N-ACETYLTRANSFERASE; CHILD; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; ISOENZYMES; LIKELIHOOD FUNCTIONS; MALE; NUCLEAR FAMILY; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SPINAL DYSRAPHISM;

EID: 33745686141     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0181-6     Document Type: Article

References (18)

1. Berry RJ, Li Z (2002) Folic acid alone prevents neural tube defects: evidence from the China study. Epidemiology 13:114-116
2. Butcher NJ, Arulpragasam A, Goh HL, Davey T, Minchin RF (2005) Genomic organization of human arylamine N -acetyltransferase Type I reveals alternative promoters that generate different 5′-UTR splice variants and altered translational activities. Biochem J 387:119-127
3. Czeizel AE, Dudas I (1992) Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835
4. Dupret JM, Dairou J, Atmane N, Rodrigues-Lima F (2005) Inactivation of human arylamine N -acetyltransferase 1 by hydrogen peroxide and peroxynitrate. Methods Enzymol 400:215-229
5. Hein DW, Doll MA, Fretland AJ, Leff MA, Webb SJ, Xiao GH, Devanaboyina US, Nangju NA, Feng Y (2000) Molecular genetics and epidemiology of the NAT1 and NAT2 acetylation polymorphisms. Cancer Epidemiol Biomarkers Prev 9:29-42
6. Hein DW (2002) Molecular genetics and function of NAT1 and NAT2: Role in aromatic amine metabolism and carcinogenesis. Mutat Res 506-507:65-77
7. Jensen LE, Hoess K, Whitehead AS, Mitchell LE (2005) The NAT1 C1095A polymorphism, maternal multivitamin use and smoking, and the risk of spina bifida. Birth Defects Research (Part A) 73:512-516
8. Minchin RF (1995) Acetylation of p -aminobenzoylglutamate, a folic acid catabolite, by recombinant human arylamine N -acetyltransferase and U937 cells. Biochem J 307:1-3
9. Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS (2004) Spina bifida. Lancet 364:1885-1895
10. Mitchell MK, Futscher BW, McQueen CA (1999) Developmental expression of N -acetyltransferases in C57BL/6 mice. Drug Metab Dispos 27:261-264
11. MRC (1991) Prevention of neural tube defects. Lancet 338:131-137
12. Payton M, Smelt V, Upton A, Sim E (1999) A method for genotyping murine arylamine N -acetyltransferase type 2 (NAT2): A gene expressed in preimplantation embryonic offspring stem cells encoding an enzyme acetylating the folate catabolite p-aminobenzoylglutamate. Biochem Pharmacol 58:779-785
13. Smelt VA, Upton A, Adjaye J, Payton MA, Boukouvala S, Johnson N, Mardon HJ, Sim E (2000) Expression of arylamine N -acetyltransferases in pre-term placentas and in human pre-implantation embryos. Hum Mol Genet 9:1101-1107
14. Stanley LA, Copp AJ, Pope J, Rolls S, Smelt VH, Sim E (1998) Immunochemical detection of arylamine N -acetyltransferase during mouse embryonic offspring development and in adult mouse brain. Teratology 58:174-182 8 174-182
15. Sugamori KS, Wong S, Gaedigk A, Yu V, Abramovici H, Rozmahel R, Grant DM (2003) Generation and functional characterization of arylamine N-acetyltransferase Nat1/Nat2 double-knockout mice. Mol Pharmacol 64:170-179
16. Ward A, Summers MJ, Sim E (1995) Purification of recombinant human N -acetyltransferase type 1 (NAT1) expressed in E. coli and characterization of its potential role in folate metabolism. Biochem Pharmacol 49:1759-1767
17. Weinberg CR, Wilcox AJ, Lie RT (1998) A log-linear approach to case-parent-triad data: Assesing the effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. Am J Hum Genet 62:969-978
18. Wilcox AJ, Weinberg CR, Lie RT (1998) Distinquishing the effects of maternal and offspring genes through studies of "case-parent triads". Am J Epidemiol 148:893-901