Ocular defects associated with a null mutation in the mouse arylamine N-acetyltransferase 2 gene

Mammalian Genome

Volumn 18, Issue 4, 2007, Pages 270-276

  Wakefield, Larissa ^a   Long, Hilary ^a   Lack, Nathan ^a   Sim, Edith ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARYLAMINE ACETYLTRANSFERASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANOPHTHALMIA; ARTICLE; BREEDING; CATARACT; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EMBRYO; EYE DISEASE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HISTOLOGY; KNOCKOUT MOUSE; MALE; MICROPHTHALMIA; MOUSE; NONHUMAN; PHENOTYPE; PROGENY; PROTEIN FUNCTION; SCORING SYSTEM; TRANSGENE; TRANSGENIC MOUSE;

ANIMALS; ARYLAMINE N-ACETYLTRANSFERASE; CROSSES, GENETIC; EYE; EYE ABNORMALITIES; FEMALE; HOMOZYGOTE; MALE; MICE; MUTATION; PHENOTYPE; SEX CHARACTERISTICS;

MUS;

EID: 34250199726     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-007-9010-z     Document Type: Article

References (46)

1. Adam MP, Hudgins L (2005) Kabuki syndrome: a review. Clin Genet 67:209-219
2. Atmane N, Dairou J, Paul A, Dupret JM, Rodrigues-Lima F (2003) Redox regulation of the human xenobiotic metabolizing enzyme arylamine N-acetyltransferase 1 (NAT1). Reversible inactivation by hydrogen peroxide. J Biol Chem 278:35086-35092
3. Cornish VA, Pinter K, Boukouvala S, Johnson N, Labrousse C, et al. (2003) Generation and analysis of mice with a targeted disruption of the arylamine N-acetyltransferase type 2 gene. Pharmacogenomics J 3:169-177
4. Dairou J, Malecaze F, Dupret JM, Rodrigues-Lima F (2005) The xenobiotic-metabolizing enzymes arylamine N-acetyltransferases in human lens epithelial cells: inactivation by cellular oxidants and UVB-induced oxidative stress. Mol Pharmacol 67:1299-1306
5. Dunlevy LP, Burren KA, Chitty LS, Copp AJ, Greene ND (2006a) Excess methionine suppresses the methylation cycle and inhibits neural tube closure in mouse embryos. FEBS Lett 580:2803-2807
6. Dunlevy LP, Burren KA, Mills K, Chitty LS, Copp AJ, et al. (2006b) Integrity of the methylation cycle is essential for mammalian neural tube closure. Birth Defects Res A Clin Mol Teratol 76:544-552
7. Fakis G, Boukouvala S, Buckle V, Payton M, Denning C, et al. (2000) Chromosome mapping of the genes for murine arylamine N-acetyltransferases (NATs), enzymes involved in the metabolism of carcinogens: identification of a novel upstream noncoding exon for murine Nat2. Cytogenet Cell Genet 90:134-138
8. Fantel AG, Person RE, Burroughs-Gleim C, Shepard TH, Juchau MR, et al. (1991) Asymmetric development of mitochondrial activity in rat embryos as a determinant of the defect patterns induced by exposure to hypoxia, hyperoxia, and redox cyclers in vitro. Teratology 44:355-362
9. Favor J, Grimes P, Neuhauser-Klaus A, Pretsch W, Stambolian D (1997) The mouse Cat4 locus maps to chromosome 8 and mutants express lens-corneal adhesion. Mamm Genome 8:403-406
10. Fitzpatrick DR, van Heyningen V (2005) Developmental eye disorders. Curr Opin Genet Dev 15:348-353
11. Grimes PA, Koeberlein B, Favor J, Neuhauser-Klaus A, Stambolian D (1998) Abnormal eye development associated with Cat4a, a dominant mouse cataract mutation on chromosome 8. Invest Ophthalmol Vis Sci 39:1863-1869
12. Harris J, Kallen B, Robert E (1996) The epidemiology of anotia and microtia. J Med Genet 33:809-813
13. Hein DW (2002) Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis. Mutat Res 506-507:65-77
14. Hein DW, Grant DM, Sim E (2000) Update on consensus arylamine N-acetyltransferase gene nomenclature. Pharmacogenetics 10:291-292
15. Holmgren C, Kanduri C, Dell G, Ward A, Mukhopadhya R, et al. (2001) CpG methylation regulates the Igf2/H19 insulator. Curr Biol 11:1128-1130
16. Jablonski MM, Lu L, Wang X, Chesler EJ, Carps E, et al. (2004) The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1. Mol Vis 10:577-587
17. 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 Res A Clin Mol Teratol 73:512-516
18. Jensen LE, Hoess K, Mitchell LE, Whitehead AS (2006) Loss of function polymorphisms in NAT1 protect against spina bifida. Hum Genet 120:52-57
19. Kalter H (1979) Sex, side, and severity in spontaneous malformations of fetal A/JKt mice, and their associations with each other and with fetal weight. Teratology 19:1-8
20. Karolyi J, Erickson RP, Liu S, Killewald L (1990) Major effects on teratogen-induced facial clefting in mice determined by a single genetic region. Genetics 126:201-205
21. Kawamura A, Graham J, Mushtaq A, Tsiftsoglou SA, Vath GM, et al. (2005) Eukaryotic arylamine N-acetyltransferase. Investigation of substrate specificity by high-throughput screening. Biochem Pharmacol 69:347-359
22. Kirke PN, Daly LE, Molloy A, Weir DG, Scott JM (1996) Maternal folate status and risk of neural tube defects. Lancet 348:67-68
23. Kuzniarz M, Mitchell P, Cumming RG, Flood VM (2001) Use of vitamin supplements and cataract: the Blue Mountains Eye Study. Am J Ophthalmol 132:19-26
24. Lammer EJ, Shaw GM, Iovannisci DM, Finnell RH (2004a) Periconceptional multivitamin intake during early pregnancy, genetic variation of acetyl-N-transferase 1 (NAT1), and risk for orofacial clefts. Birth Defects Res A Clin Mol Teratol 70:846-852
25. Lammer EJ, Shaw GM, Iovannisci DM, Van Waes J, Finnell RH (2004b) Maternal smoking and the risk of orofacial clefts: Susceptibility with NAT1 and NAT2 polymorphisms. Epidemiology 15:150-156
26. Lapko VN, Cerny RL, Smith DL, Smith JB (2005) Modifications of human betaA1/betaA3-crystallins include S-methylation, glutathiolation, and truncation. Protein Sci 14:45-54
27. Matas N, Thygesen P, Stacey M, Risch A, Sim E (1997) Mapping AAC1, AAC2 and AACP, the genes for arylamine N-acetyltransferases, carcinogen metabolising enzymes on human chromosome 8p22, a region frequently deleted in tumours. Cytogenet Cell Genet 77:290-295
28. Meyer D, Parkin DP, Seifart HI, Maritz JS,Engelbrecht AH, et al. (2003) NAT2 slow acetylator function as a risk indicator for age-related cataract formation. Pharmacogenetics 13:285-289
29. Milunsky JM, Huang XL (2003) Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 64:509-516
30. Minchin RF (1995) Acetylation of p-aminobenzoylglutamate, a folic acid catabolite, by recombinant human arylamine N-acetyltransferase and U937 cells. Biochem J 307 (Pt 1):1-3
31. Nishiguchi S, Wood H, Kondoh H, Lovell-Badge R, Episkopou V (1998) Sox1 directly regulates the gamma-crystallin genes and is essential for lens development in mice. Genes Dev 12:776-781
32. Rassoulzadegan M, Grandjean V, Gounon P, Vincent S, Gillot I, Cuzin F (2006) RNA-mediated non-mendelian inheritance of an epigenetic change in the mouse. Nature 441:469-474
33. Robinson ML, Holmgren A, Dewey MJ (1993) Genetic control of ocular morphogenesis: defective lens development associated with ocular anomalies in C57BL/6 mice. Exp Eye Res 56:7-16
34. Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE (2006) Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. Am J Med Genet A 140:170-173
35. Silver L (1995) Chapter 3: Laboratory mice. In: Mouse Genetics: concepts and applications, Oxford University Press, New York, pp 43-52 (Adapted for the Web by Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor)
36. Smelt VA, Upton A, Adjaye J, Payton MA, Boukouvala S, et al. (2000) Expression of arylamine N-acetyltransferases in pre-term placentas and in human pre-implantation embryos. Hum Mol Genet 9:1101-1107
37. Stanley LA, Copp AJ, Pope J, Rolls S, Smelt V, et al. (1998) Immunochemical detection of arylamine N-acetyltransferase during mouse embryonic development and in adult mouse brain. Teratology 58:174-182
38. Tamer L, Yilmaz A, Yildirim H, Ayaz L, Ates NA, et al. (2005) N-acetyltransferase 2 phenotype may be associated with susceptibility to age-related cataract. Curr Eye Res 30:835-839
39. Tyan ML (1992) Effects of H-2 and vitamin A on eye defects in congenic mice. Proc Soc Exp Biol Med 199:123-127
40. Tyndall DA, Cook CS (1990) Spontaneous, asymmetrical microphthalmia in C57B1/6J mice. J Craniofac Genet Dev Biol 10:353-361
41. Wakefield L, Cornish V, Broackes-Carter F, Sim E (2005) Arylamine N-acetyltransferase 2 expression in the developing heart. J Histochem Cytochem 53:583-592
42. 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
43. Westwood IM, Kawamura A, Fullam E, Russell AJ, Davies SG, et al. (2006) Structure and mechanism of arylamine N-acetyltransferases. Curr Top Med Chem 6:1641-1654
44. Whitehead VM (2006) Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol 134:125-136
45. Zandy AJ, Lakhani S, Zheng T, Flavell RA, Bassnett S (2005) Role of the executioner caspases during lens development. J Biol Chem 280:30263-30272
46. Zetterberg M, Tasa G, Prince JA, Palmer M, Juronen E, et al. (2005) Methylenetetrahydrofolate reductase genetic polymorphisms in patients with cataract. Am J Ophthalmol 140:932-934