The molecular basis of glutamate formiminotransferase deficiency

Human Mutation

Volumn 22, Issue 1, 2003, Pages 67-73

  Hilton, John F ^a,b   Christensen, Karen E ^a   Watkins, David ^b   Raby, Benjamin A ^a,c   Renaud, Yannick ^c   De la Luna, Susanna ^d   Estivill, Xavier ^d   MacKenzie, Robert E ^a   Hudson, Thomas J ^a,b,c   Rosenblatt, David S ^a,b,e  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^e ROYAL VICTORIA HOSPITAL   (Canada)

Author keywords

FIGLU; Folate; FTCD; Glutamate formiminotransferase; Inborn error of metabolism

Indexed keywords

FORMIMINOTRANSFERASE; GLUTAMATE FORMIMINOTRANSFERASE CYCLODEAMINASE; TRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; ENZYME DEFICIENCY; FOLATE METABOLISM; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

AMMONIA-LYASES; ANIMALS; CELL LINE; FIBROBLASTS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GLUTAMATE FORMIMIDOYLTRANSFERASE; HUMANS; HYDROXYMETHYL AND FORMYL TRANSFERASES; METABOLISM, INBORN ERRORS; MULTIENZYME COMPLEXES; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SWINE;

SUIDAE;

EID: 0037708873     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10236     Document Type: Article

References (22)

1. Aarskog NK, Vedeler CA. 2000. Real-time quantitative polymerase chain reaction. A new method detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 107:494-498.
2. Arakawa T, Ohara K, Kudo Z, Tada K, Hayashi T, Mizuno T. 1963. Hyperfolic-acidemia with formiminoglutamic-aciduria following histidine loading: suggested for a case of congenital deficiency in formiminotransferase. Tohoku J Exp Med 80:370-377.
3. Arakawa T, Ohara K, Takahashi Y, Ogasawara J, Hayashi T, Chiba R, Wada Y, Tada K, Mizuno T, Ohamura T, Yoshida T. 1965. Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism. Ann Pediatr 205:1-8.
4. Arakawa T, Tamura T, Ohara K, Narisawa K, Tanno K. 1968. Familial occurrence of formiminotransferase deficiency syndrome. Tohoku J Exp Med 96:211-217.
5. Beaudet R, MacKenzie RE. 1976. Formiminotransferase cyclodeaminase from porcine liver. An octomeric enzyme containing bifunctional polypeptides. Biochim Biophys Acta 453:151-161.
6. Beck B, Christensen E, Brandt NJ, Pedersen M. 1981. Formiminoglutamic aciduria in a slightly retarded boy with chronic obstructive lung disease. J Inherit Metab Dis 4:225-228.
7. Bradford MM. 1976. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248-254.
8. Cormack B. 1997. In: Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K, editors. Current protocols in molecular biology. Vol. 1. New York: John Wiley and Sons, Inc. p 8.5.1-8.5.9.
9. Drury EJ, Bazar LS, MacKenzie RE. 1975. Formiminotransferase-cyclodeaminase from porcine liver. Purification and physical properties of the enzyme complex. Arch Biochem Biophys 169:662-668.
10. Erbe RW. 1986. Inborn errors of folate metabolism. In: Blakely RL, Whitehead MA, editors. Folates and pterins. Vol. 3. New York: John Wiley & Sons. p 413.
11. Findlay WA, MacKenzie RE. 1987. Dissociation of the octameric bifunctional enzyme formiminotransferase-cyclodeaminase in urea. Isolation of two monofunctional dimers. Biochemistry 26:1948-1954.
12. Findlay WA, Zarkadas CG, MacKenzie RE. 1989. An improved procedure for the purification of formiminotransferase-cyclodeaminase from pig liver. Kinetics of the transferase activity with tetrahydropteroylpolyglutamates. Biochim Biophys Acta 999:52-57.
13. Kohls D, Sulea T, Purisima EO, MacKenzie RE, Vrielink A. 2000. The crystal structure of the formiminotransferase domain of formiminotransferase-cyclodeaminase: implications for substrate channeling in a bifunctional enzyme. Structure 8:35-46.
14. MacKenzie RE, Baugh CM. 1980. Tetrahydropteroylpolyglutamate derivatives as substrates of two multifunctional proteins with folate-dependent enzyme activities. Biochim Biophys Acta 611:187-195.
15. Murley LL, Mejia NR, MacKenzie RE. 1993. The nucleotide sequence of porcine formiminotransferase cyclodeaminase. Expression and purification from Escherichia coli. J Biol Chem 268:22820-22824.
16. Murley LL, MacKenzie RE. 1995. The two monofunctional domains of octameric formiminotransferase-cyclodeaminase exist as dimers. Biochemistry 34:10358-10364.
17. Niederwieser A, Matasovic A, Steinmann B, Baerlocher K, Kempken B. 1976. Hydantoin-5-propionic aciduria in folic acid nondependent formiminoglutamic aciduria observed in two siblings. Pediatr Res 10:215-219.
18. Paquin J, Baugh CM, MacKenzie RE. 1985. Channeling between active sites of formiminotransferase-cyclodeaminase. J Biol Chem 260:14925-14931.
19. Perry TL, Applegarth DA, Evans ME, Hansen S, Jellum E. 1975. Metabolic studies of a family with massive formiminoglutamic aciduria. Pediatr Res 9:117-122.
20. Rosenblatt DS, Fenton WA. 2001. Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill. p 3897-3933.
21. Rowe PB. 1983. Inherited disorders of folate metabolism. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, editors. The metabolic basis of inherited diseases. New York: McGraw-Hill. p 498.
22. Solans A, Estivill X, de la Luna S. 2000. Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency. Cytogenet Cell Genet 88:43-49.