A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria

Journal of Inherited Metabolic Disease

Volumn 24, Issue 2, 2001, Pages 213-230

  Erlandsen, H ^a   Stevens, R C ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; SAPROPTERIN; 5,6,7,8-TETRAHYDROBIOPTERIN; BIOPTERIN; DRUG DERIVATIVE; TETRAHYDROBIOPTERIN;

AMINO ACID SEQUENCE; ARTICLE; BINDING AFFINITY; BINDING SITE; CLINICAL FEATURE; CORRELATION FUNCTION; DIET THERAPY; ENZYME ACTIVE SITE; ENZYME REPRESSION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENOTYPE; HUMAN; HUMAN CELL; HYDROXYLATION; HYPERPHENYLALANINEMIA; HYPOTHESIS; MENTAL DEFICIENCY; NEWBORN SCREENING; PHENOTYPE; PHENYLKETONURIA; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN INTERACTION; PROTEIN SECONDARY STRUCTURE; SERUM; TRANSPORT KINETICS; TREATMENT OUTCOME; ANIMAL; CHEMISTRY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; METABOLISM; MOLECULAR GENETICS; PROTEIN CONFORMATION; REVIEW;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; ANIMALS; BIOPTERIN; HUMANS; MOLECULAR SEQUENCE DATA; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROTEIN CONFORMATION;

EID: 0034744074     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1010371002631     Document Type: Article

References (34)

1. Benit P, Rey F, Blandin-Savoja F, Munnich A, Abadie V, Rey J (1999) The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. Mol Genet Metab 68: 43-47.
2. Bjørgo E, Knappskog PM, Martinez A, Stevens RC, Flatmark T (1998) Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria. Eur J Biochem 257: 1-10.
3. Durr E, Jelesarov I (2000) Thermodynamic analysis of cavity creating mutations in an engineered leucine zipper and energetics of glycerol-induced coiled coil stabilization. Biochemistry 39: 4472-4482.
4. Erlandsen H, Stevens RC (1999) The structural basis of phenylketonuria. Mol Genet Metab 68: 103-125.
5. Erlandsen H, Fusetti F, Martinez A, Hough E, Flatmark T, Stevens RC (1997a) Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria. Nature Struct Biol 4: 995-1000.
6. Erlandsen H, Martinez A, Knappskog PM, Haavik J, Hough E, Flatmark T (1997b) Crystallization and preliminary diffraction analysis of a truncated homodimer of human phenylalanine hydroxylase. FEBS Lett 406: 171-174.
7. Erlandsen H, Bjørgo E, Flatmark T, Stevens RC (2000) Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase. Biochemistry 39: 2208-2217.
8. Fusetti F, Erlandsen H, Flatmark T, C. SR (1998) Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. J Biol Chem 273: 16962-16967.
9. Gamez A, Perez B, Ugarte M, Desviat LR (2000) Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein. J Biol Chem 275: 29737-29742.
10. Ghosh S, Wolan D, Adak S, et al (1999) Mutational analysis of the tetrahydrobiopterin-binding site in inducible nitric-oxide synthase. J Biol Chem 274: 24100-24112.
11. Harris TK, Wu G, Massiah MA, Mildvan AS (2000) Mutational, kinetic, and NMR studies of the roles of conserved glutamate residues and of lysine-39 in the mechanism of the MutT pyrophosphohydrolase. Biochemistry 39: 1655-1674.
12. Hubbard SJ, Argos P (1995) Evidence on close packing and cavities in proteins. Curr Opin Biotechnol 6: 375-381.
13. Jennings IG, Cotton RG, Kobe B (2000) Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria. Eur J Hum Genet 8: 683-696.
14. Kabsch W, Sander C (1983) Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features. Biopolymers 22: 2577-2637.
15. Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR (1997) Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet 61: 1309-1317.
16. Knappskog PM, Eiken HG, Martinez A, Bruland O, Apold J, Flatmark T (1996) PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems. Hum Mutat 8: 236-246.
17. Kobe B, Jennings IG, House CM, et al (1999) Structural basis of autoregulation of phenylalanine hydroxylase. Nature Struct Biol 6: 442-448.
18. Kraulis PJ (1991) MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures. J Appl Crystallogr 24: 946-950.
19. Kure S, Hou DC, Ohura T, et al (1999) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135: 375-378.
20. Martinez A, Knappskog PM, Olafdottir S, et al (1995) Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Biochem J 306: 589-597.
21. Merritt EA, Bacon DJ (1997) Raster3D: photorealistic molecular graphics. Methods Enzymol 277: 505-524.
22. Nagasaki Y, Matsubara Y, Takano H, et al (1999) Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer. Pediatr Res 45: 465-473.
23. Okano Y, Eisensmith RC, Guttler F, et al (1991a) Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med 324: 1232-1238.
24. Okano Y, Wang T, Eisensmith RC, et al (1991b) Phenylketonuria missense mutations in the Mediterranean. Genomics 9: 96-103.
25. Okano Y, Hase Y, Shintaku H, et al (1994) Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts. Hum Mol Genet 3: 659.
26. Oue S, Okamoto A, Yano T, Kagamiyama H (1999) Redesigning the substrate specificity of an enzyme by cumulative effects of the mutations of non-active site residues. J Biol Chem 274: 2344-2349.
27. Sarkissian CN, Shao Z, Blain F, et al (1999) A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci USA 96: 2339-2344.
28. Sarkissian CN, Boulais DM, McDonald JD, Scriver CR (2000) A heteroallelic mutant mouse model: a new orthologue for human hyperphenylalaninemia. Mol Genet Metab 69: 188-194.
29. Scriver CR, Waters PJ, Sarkissian C, et al (2000) PAHdb: a locus-specific knowledgebase. Hum Mutat 15: 99-104.
30. Spaapen LJM, Bakker JA, Velter C, et al (2000) Tetrahydrobiopterin-responsive hyperphenylalaninemia (HPA) in dutch neonates. J Inherit Metab Dis 23: (supplement 1): 45.
31. Trefz F, Blau N, Aulehla-Scholz C, Korall H, Frauendienst-Egger G (2000) Treatment of mild phenylketonuria (PKU) by tetrahydrobiopterin (BH4). J Inherit Metab Dis 23 (supplement 1): 47.
32. Wang T, Okano Y, Eisensmith RC, et al (1991) Founder effect of a prevalent phenylketonuria mutation in the Oriental population. Proc Natl Acad Sci USA 88: 2146-2150.
33. Waters PJ, Parniak MA, Nowacki P, Scriver CR (1998) In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. Hum Mutat 11: 4-17.
34. Zaremba SM, Gregoret LM (1999) Context-dependence of amino acid residue pairing in antiparallel beta-sheets. J Mol Biol 291: 463-479.