Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

Journal of Medical Genetics

Volumn 46, Issue 6, 2009, Pages 407-411

  Espinos C ^a   Pineda, M ^b   Martinez Rubio D ^a   Lupo, V ^a   Ormazabal, A ^b   Vilaseca, M A ^b   Spaapen, L J M ^c   Palau, F ^a   Artuch, R ^b,d  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

UNCLASSIFIED DRUG; UROC1 PROTEIN; UROCANATE HYDRATASE; UROCANIC ACID;

ACIDURIA; ADULT; ALPHA HELIX; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; ATAXIA; CASE REPORT; ENZYME ACTIVITY; ENZYME SYNTHESIS; FEMALE; GENE DISRUPTION; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; GENOME ANALYSIS; HUMAN; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; UROCANIC ACIDURIA;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; ATAXIA; BIOLOGICAL MARKERS; CHILD; COMPUTER SIMULATION; FEMALE; FOLIC ACID; HISTIDINE; HUMANS; MENTAL RETARDATION; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ALIGNMENT; UROCANATE HYDRATASE; UROCANIC ACID;

EID: 67449150197     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.060632     Document Type: Article

References (22)

1. Levy HL, Taylor RG, McInnes RR. Disorders of histidine metabolism. In: Scriver CR BA, Sly WS, Valle D, Chuilds B, Kinzler KW, Vogelstein B, eds. The metabolic and molecular bases of inherited disease. New York, 1995:1107.
2. Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS. The molecular basis of glutamate formiminotransferase deficiency. Hum Mutat 2003;22:67-73. (Pubitemid 36807774)
3. Yoshida T, Tada K, Honda Y, Arakawa T. Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded. Tohoku J Exp Med 1971;104:305-312
4. Kalafatic Z, Lipovac K, Jezerinac Z, Juretic D, Dumic M, Zurga B, Res L. A liver urocanase deficiency. Metabolism 1980;29:1013-1019 (Pubitemid 11232194)
5. Kuracka L, Kalnovicova T, Liska B, Turcani P. HPLC method for measurement of purine nucleotide degradation products in cerebrospinal fluid. Clin Chem 1996;42:756-760 (Pubitemid 26142096)
6. Ormazabal A, Garcia-Cazorla A, Fernandez Y, Fernandez-Alvarez E, Campistol J, Artuch R. HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J Neurosci Methods 2005;142:153-158 (Pubitemid 40138040)
7. Ormazabal A, Garcia-Cazorla A, Perez-Duenas B, Gonzalez V, Fernandez-Alvarez E, Pineda M, Campistol J, Artuch R. Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population. Clin Chim Acta 2006;371:159-162 (Pubitemid 44177581)
8. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ. Basic local alignment search tool. J Mol Biol 1990;215:403-410 (Pubitemid 20364473)
9. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-3814 (Pubitemid 37442253)
10. Wang Z, Moult J. SNPs, protein structure, and disease. Hum Mutat 2001;17:263-270 (Pubitemid 32268400)
11. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002;30:3894-3900 (Pubitemid 35012462)
12. Emsley P, Cowtan K. Coot: model-building tools for molecular graphics. Acta Crystallogr D Biol Crystallogr 2004;60:2126-2132 (Pubitemid 41742764)
13. Kessler D, Retey J, Schulz GE. Structure and action of urocanase. J Mol Biol 2004;342:183-194
14. Chasin LA, Magasanik B. Induction and repression of the histidine-degrading enzymes of Bacillus subtilis. J Biol Chem 1968;243:5165-5178
15. Tabor H. Isolation and determination of histidine and related compounds. In: Colowick SP, Kaplan NO, eds. Methods in enzymology. Vol III. New York: Academic Press, 1957:633.
16. Van Gennip AH, Rajnherc J, De Bree PK, Wadman SK. Urocanase deficiency in a 7-year-old-boy with psychomotor retardation. Soc Study IEM 1983;6-9 Sept:119.
17. Rosenblatt D. Inherited disorders of folate transport and metabolism. In: Scriver CR BA, Sly WS, Valle D, Chuilds B, Kinzler KW, Vogelstein B, eds. The metabolic and molecular bases of inherited disease. New York, 1995:1107.
18. Surtees R, Heales S, Bowron A. Association of cerebrospinal fluid deficiency of 5- methyltetrahydrofolate, but not S-adenosylmethionine, with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine. Clin Sci (Lond) 1994;86:697-702. (Pubitemid 24181962)
19. Ramaekers VT, Blau N. Cerebral folate deficiency. Dev Med Child Neurol 2004;46:843-851 (Pubitemid 39549660)
20. Ramaekers VT, Rothenberg SP, Sequeira JM, Opladen T, Blau N, Quadros EV, Selhub J. Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. N Engl J Med 2005;352:1985-1991 (Pubitemid 40638369)
21. Anglin JH Jr, Bever AT, Everett MA, Lamb JH. Ultraviolet-light-induced alterations in urocanic acid in vivo. Biochim Biophys Acta 1961;53:408-409
22. Reeve VE, Greenoak GE, Canfield PJ, Boehm-Wilcox C, Gallagher CH. Topical urocanic acid enhances UV-induced tumour yield and malignancy in the hairless mouse. Photochem Photobiol 1989;49:459-464