In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model

Molecular Genetics and Metabolism

Volumn 98, Issue 3, 2009, Pages 264-272

  Gunasekera, Richard S ^a   Hyland, Keith ^a  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Catecholamine; Dopamine; GTP cyclohydrolase 1; Hph 1 mouse model; Hyperphenylalaninemia; Pediatric metabolic disease; Phenylalanine hydroxylase; Phenylketonuria (PKU); Serotonin; Tetrahydrobiopterin

Indexed keywords

6 METHYLTETRAHYDROPTERIN; ANTIBODY; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; PROTEIN; TETRAHYDROBIOPTERIN;

AMINO ACID BLOOD LEVEL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME KINETICS; ENZYME PHOSPHORYLATION; ENZYME REGULATION; EXPERIMENTAL MODEL; GENE MUTATION; HYPERPHENYLALANINEMIA; IN VIVO STUDY; LIVER; MALE; MOUSE; MOUSE MUTANT; NONHUMAN; PRIORITY JOURNAL; WESTERN BLOTTING; WILD TYPE;

ANIMALS; KINETICS; MICE; MICE, TRANSGENIC; MODELS, ANIMAL; MUTATION; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PHOSPHORYLATION; PTERINS;

ANIMALIA; MUS;

EID: 70349734498     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.05.007     Document Type: Article

References (51)

1. Hardelid P., Cortina-Borja M., Munro A., Jones H., Cleary M., Champion M.P., Foo Y., Scriver C.R., and Dezateux C. The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England. Ann. Hum. Genet. 72 Pt 1 (2008) 65-71
2. Health Services/Technology Assessment Text (HSTAT): NIH Consensus Development Conference Reports and State of the Science Statements: 113. Phenylketonuria: Screening and Management. Retrieved May 11, 2009. Available from: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=hstat4.section.20940.
3. Scriver C.R., and Clow C.L. Phenylketonuria: epitome of human biochemical genetics (first of two parts). N. Engl. J. Med. 303 23 (1980) 1336-1342
4. R.S. Gunasekera, Pathophysiological Mechanisms in Dopa-Responsive Dystonia and a Novel Regulation of the Aromatic Amino acid Hydroxylases. Ph.D. Dissertation, Baylor University, Waco, Texas, USA, 1997.
5. Hyland K., Gunasekara R.S., Munk-Martin T.L., Arnold L.A., and Engle T. The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency. Ann. Neurol. 54 Suppl. 6 (2003) S46-S48
6. Russell W., Kelly E., Hunsicker P., Bangham J., Maddux S., and Phipps E. Specific-locus test shows ethylnitrosourea to be the most potent mutagen in the mouse. Proc. Natl. Acad. Sci. USA 76 (1979) 5818-5819
7. Bode V.C., McDonald J.D., Guenet J.L., and Simon D. Hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosurea mutagenesis. Genetics 118 (1987) 299-305
8. McDonald J.D., and Bode V.C. Hyperphenylalaninaemia in the hph-1 mouse mutant. Ped. Res. 23 (1988) 63-67
9. Hyland K., Fryburg J.S., Wilson W.G., Bebin E.M., Arnold L.A., Gunasekera R.S., Jacobson R.D., Rost-RuVner E., and Trugman J. Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology 48 (1997) 1290-1297
10. McDonald J.D., Cotton R.G.H., Jennings I., Ledley F.D., Woo S.L.C., and Bode V.C. Biochemical defect of the hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity. J. Neurochem. 50 (1988) 655-657
11. Kaufman S. The phenylalanine hydroxylation system from mammalian liver. Adv. Enzymol. 35 (1971) 245-319
12. Shiman R. In: Blakely R.L., and Benkovic S.l. (Eds). Folates and Pterins vol. 2 (1985), John Wiley and Sons, New York 179-249
13. Baker R., Jefferson L.S., and Shiman R. Immunocytochemical identification of PAH and albumin in cultured hepatoma cells and isolated rat hepatocytes. J. Cell Biol. 90 (1981) 145-152
14. Rao D.N., and Kaufman S. Purification and state of activation of rat kidney phenylalanine hydroxylase. J. Biol. Chem. 261 (1986) 8866-8876
15. Kaufman S., and Fisher D.B. Purification and some physical properties of PAH from rat liver. J. Biol. Chem. 245 (1970) 4745-4750
16. Shiman R., Gray D.W., and Pater A. A simple purification of PAH by substrate induced hydrophobic chromatography. J. Biol. Chem. 254 (1979) 11300-11306
17. Richardson S.C.B., and Fisher M.J. Characterization of phenylalanine hydroxylase from rat kidney. Int. J. Biochem. 25 (1993) 581-588
18. Phillips R.S., Parniack M.A., and Kaufman S. The interaction of aromatic amino acids with rat liver phenylalanine hydroxylase. J. Biol. Chem. 259 (1984) 271-277
19. Shiman R., Mortimore G.E., Schworer C.M., and Gray D.W. Regulation of phenylalanine hydroxylase activity by phenylalanine in vivo. J. Biol. Chem. 257 (1982) 11213-11216
20. Doskeland A.P., Schworer C.M., Doskeland S.D., Chrisman T.D., Soderling T.R., Corbin J.D., and Flatmark T. Some aspects of the phosphorylation of phenylalanine 4-monooxygenase by a calcium-dependent and calmodulin dependent protein kinase. Eur. J. Biochem. 145 (1984) 31-37
21. Doskeland A.P., Vintermyr O.K., Flatmark T., Cotton R.G., and Doskeland S.D. Phenylalanine positively modulates the cAMP-dependent phosphorylation and negatively modulates the vasopressin-induced and okadaic-acid-induced phosphorylation of phenylalanine 4-monooxygenase in intact rat hepatocytes. Eur. J. Biochem. 206 (1992) 161-170
22. Abita J., Milstein S., Chang N., and Kaufman S. In vitro activation of rat liver PAH by phosphorylation. J. Biol. Chem. 251 (1976) 5310-5314
23. Ayling J.E., Helfand G.D., and Pirson W.D. Phenylalanine hydroxylase from human kidney. Enzyme 20 (1975) 6
24. Shiman R., and Gray D.W. Relationship between the substrate activation site and catalytic site of phenylalanine hydroxylase. J. Biol. Chem. 255 (1980) 4793-4800
25. Mitnaul L.J., and Shiman R. Coordinate regulation of tetrahydrobiopterin turnover and phenylalanine hydrolase activity in rat cells. Proc. Natl. Acad. Sci. USA 92 (1995) 885-889
26. Xia T., Gray D., and Shiman R. Regulation of rat liver phenylalanine hydroxylase. J. Biol. Chem. 269 (1994) 24657-24665
27. McDonald J.D., Cotton R.G.H., Jennings I., Ledley F.D., Woo S.L.C., and Bode V.C. Biochemical defect of the HPH-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity. J. Neurochem. 50 (1988) 655-657
28. Gutlich M., Ziegler I., Witter K., Hemmens B., Hultner L., McDonald J.D., Werner T., Rodl W., and Bacher A. Molecular characterization of HPH-1: a mouse mutant deficient in GTP cyclohydrolase I activity. Biochem. Biophys. Res. Commun. 203 (1994) 1675-1681
29. Maeda T., Haeno S., Oda K., Mori D., Ichinose H., Nagatsu T., and Suzuki T. Studies on the genotype-phenotype relation in the hph-1 mouse mutant deficient in guanosine triphosphate (GTP) cyclohydrolase I activity. Brain Dev. Suppl. 1 (2000) S50-S53
30. Milstein S., Dorche C., and Kaufman S. Studies on the interaction of a thiol dependent hydrogen peroxide scavenging enzyme and phenylalanine hydroxylase. Arch. Biochem. Biophys. 282 (1990) 346-351
31. Lowry O.H., Rosebrough N.J., Farr A.L., and Randall R.J. Protein measurement with Folin phenol reagent. J. Biol. Chem. 193 (1951) 265-275
32. Hyland K., Smith I., and Howells D.W. An isocratic high-performance liquid chromatographic system for the investigation of abnormalities of neurotransmitter amine, biopterin, and aromatic amino acid metabolism in cerebrospinal fluid using sequential coulometric electrochemical and fluorescence detection. In: Joseph M.H., Fillenz M., Marsden C.A., and Macdonald I.A. (Eds). Monitoring Neurotransmitter Release During Behavior (1986), Ellis Howard, UK 233-238
33. Jennings I.G., Russel R.G.McR., Armarago W.L.F., and Cotton R.G.H. Functional analysis of the effect of monoclonal antibodies on monkey liver phenylalanine hydroxylase. Biochem. J. 235 (1986) 133-138
34. Kaufman S. Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism. J. Pediatrics 10 (1986) 572-578
35. Kaufman S. The phenylalanine hydroxylating system. Adv. Enzymol. 67 (1993) 110-166
36. Smith S.C., McAdam W.J., Kemp B.E., Morgan F.J., and Cotton R.G. A monoclonal antibody to the phosphorylated form of phenylalanine hydroxylase. Biochem. J. 244 (1987) 625-631
37. Green A.K., Cotton R.G.H., Jennings I., and Fisher M.J. Experimental determination of the phosphorylation state of phenylalanine hydroxylase. Biochem. J. 265 (1990) 563-568
38. Fisher D.B., and Kaufman S. The stimulation of rat liver phenylalanine hydroxylase by phospholipids. J. Biol. Chem. 247 (1972) 2250-2252
39. Hyland K., Gunasekera R.S., Engle T., and Arnold L.A. Tetrahydrobiopterin and biogenic amine metabolism in the hph-1 mouse. J. Neurochem. 67 (1996) 752-759
40. Matalon R. Current status of biopterin screening. J. Pediatr. 104 (1984) 579-581
41. Takahashi T., Kodama S., Nishio H., Takumi T., Matsuo T., Hase Y., and Sawada Y. Transient hyperphenylalaninaemia with a high neopterin to biopterin ration in urine. J. Inher. Metab. Dis. 8 (1985) 105-108
42. Jervis G.A. Studies on Phenyllalanine oligophrenia. The position of metabolic error. J. Biol. Chem. 169 (1947) 651-656
43. Kaufman S.J. Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine. Biol. Chem. 234 (1969) 2677-2682
44. Woo S.L., Gillam S.S., and Woolf L.I. The isolation and properties of phenylalanine hydroxylase from human liver. Biochem. J. 139 (1974) 741-749
45. Ledley F.D., Grenett H.E., Dunbar B.S., and Woo S.L.C. Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase. Biochem. J. 267 (1990) 399-406
46. Parniack M.A., Davis M.A., and Kaufman S. Effect of alkaline pH on the activity of rat phenylalanine hydroxylase. J. Biol. Chem. 263 (1988) 12
47. Shiman R., Jones S.H., and Gray D.W. Mechanism of phenylalanine regulation of phenylalanine hydroxylase. J. Biol. Chem. 265 (1990) 116333-116342
48. Hufton S.E., Jennings I.G., and Cotton G.B. Structure and function of aromatic amino acid hydroxylases. Biochem. J. 311 (1995) 353-366
49. Milstien S., Jaffe H., Kowlessur D., and Bonner T.I. Purification and cloning of the GTP cyclohydrolase I feedback regulatory protein, GFRP. J. Biol. Chem. 271 (1996) 19743-19751
50. Donland J., and Kaufman S. Glucagon stimulation of rat hepatic phenylalanine hydroxylase through phosphorylation in vivo. J. Biol. Chem. 253 (1978) 6657-6659
51. Tipper J., and Kaufman S. Phenylalanine-induced phosphorylation and activation of rat hepatic phenylalanine hydroxylase in vivo. J. Biol. Chem. 267 (1992) 889-896