Glutamate carboxipeptidase II (GCPII) His475Tyr polymorphism and association studies [5]

American Journal of Medical Genetics

Volumn 130 A, Issue 3, 2004, Pages 329-330

  Vieira, Alexandre R ^a   Devlin, Angela M ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GAMMA GLUTAMYL HYDROLASE; HISTIDINE; THREONINE; TYROSINE;

ALLELE; BASE PAIRING; DNA POLYMORPHISM; GENE DELETION; GENE INSERTION; HUMAN; LETTER; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

INSERTION SEQUENCES;

EID: 4744365205     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30241     Document Type: Letter

References (17)

1. Bacich DJ, Ramadan E, O'Keefe DS, Bukhari N, Wegorzewska I, Ojeifo O, Olszewski R, Wrenn CC, Bzdega T, Wroblewska B, Heston WDW, Neale JH. 2002. Deletion of the glutamate carboxypeptidase II gene in mice reveals a second enzyme activity that hydrolyzes N-acetylaspartylglutamate. J Neurochem 83:20-29.
2. Caprau DM, Murray JC, Shi M, Romitti PA, Christensen K, Grady R. 2001. The role of folate metabolism in orofacial clefts. Oral communication at the Pediatric Academic Societies' 2001 Annual Meeting, Baltimore, Maryland.
3. Caprau DM, Murray JC, Romitti PA, Grady R. 2002. A TDT and candidate gene analysis demonstrates a role for genes of folate metabolism (RFC1, MTHFR) in clefting. Am J Hum Genet 71(Suppl):281.
4. Dausset J, Cann H, Cohen D, Lathrop M, Lalouel JM, White R. 1990. Centre d'Estude du Polymorphisme Humain (CEPH): Collaborative genetic mapping of the human genome. Genomics 6:575-577.
5. Devlin AM, Ling E, Peerson JM, Fernardo S, Clarke R, Smith AD, Hasteld CH. 2000. Glutamate carboxipeptidase II: A polymorphism associated with lower levels of serum folate and hyperhomocysteinemia. Hum Mol Genet 9:2837-2844.
6. Gibbons A. 1995. When it comes to evolution, humans are in the slow class. Science 267:1907-1908.
7. O'Keefe DS, Su SL, Bacich DJ, Horiguchi Y, Luo Y, Powell CT, Zandvliet D, Russell PJ, Molloy PL, Nowak NJ, Shows TB, Mullins C, Haar RAV, Fair WR, Heston WDW. 1998. Mapping, genomic organization and promoter analysis of the human prostate-specific membrane antigen gene. Biochim Biophys Acta 1443:113-127.
8. Park EA, Watanabe Y, Daack-Hirsch S, O'Brien S, Schultz R, Vieira AR, Shi M, Murray JC. 2001. A TDT and candidate gene analysis shows TGFB3 involved in non-syndromic clefting in an Asian population. Am J Hum Genet 69(Suppl):557.
9. Relton CL, Wilding CS, Jonas PA, Lynch SA, Tawn EJ, Burn J. 2003. Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype. Clin Genet 64:424-428.
10. Scala I, Sperandeo MP, Fiorito V, Andria G, Sebastio G. 2003. How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene? Am J Med Genet 123A:314-315.
11. Shi M, Caprau D, Romitti P, Christensen K, Murray JC. 2003. Genotype frequencies and linkage disequilibrium in the CEPH Human Diversity Panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2. Birth Defects Res (Part A) 67:545-549.
12. Tsai G, Dunham KS, Coyle JT. 2000. Glutamate carboxypeptidase II is essential for fetal survival. Soc Neurosci Ann Meeting Abstracts 26:574.5.
13. Tsai G, Coyle JT, Dunham KS. 2001. Gene knockout study of glutamate carboxypeptidase II. Soc Neurosci Ann Meeting Abstracts 27:124.2.
14. Vargas-Martinez C, Ordovas JM, Wilson PW, Selhub J. 2002. The glutamate carboxypeptidase II (C > T) polymorphism does not affect folate status in the Framingham Offspring cohort. J Nutr 132:1176-1179.
15. Vieira AR. 2003. Multiple annotations for GCPII in the htgs database. Am J Med Genet 123A:316.
16. Vieira AR, Trembamth D, Vandyke DC, Murray J, Marker S, Lerner G, Bonner G, Speer M. 2002. Studies with His475Tyr glutamate carboxypeptidase II polymorphism and neural tube defects. Am J Med Genet 111:218-219.
17. Zhang J, Qin S, Sait SNJ, Haley LL, Henry WM, Higgins MJ, Nowak NJ, Shows TB, Gerhard DS. 2001. The pericentromeric region of human chromosome 11: Evidence for a chromosome-specific duplication. Cytogenet Cell Genet 94:137-141.