The Structural Basis of Phenylketonuria

Molecular Genetics and Metabolism - Tập 68 Số 2 - Trang 103-125 - 1999
Heidi Erlandsen1, Raymond C. Stevens1
1The Scripps Research Institute, Department of Molecular Biology and Institute for Childhood and Neglected Diseases, La Jolla, California, 92037

Tóm tắt

Từ khóa


Tài liệu tham khảo

Kaufman, 1993, The phenylalanine hydroxylating system, Adv Enzymol, 70, 77

Kappock, 1996, Pterin-dependent amino acid hydroxylases, Chem Rev, 96, 2659, 10.1021/cr9402034

Hufton, 1995, Structure and function of the aromatic amino acid hydroxylases, Biochem J, 311, 353, 10.1042/bj3110353

Waters, 1998, In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function, Hum Mutat, 11, 4, 10.1002/(SICI)1098-1004(1998)11:1<4::AID-HUMU2>3.0.CO;2-L

Scriver, 1995, The hyperphenylalaninemias, 1015

Hoang, 1996, PAH Mutation Analysis Consortium Database: A database for disease-producing and other allelic variations at the human PAH locus, Nucleic Acids Res, 24, 127, 10.1093/nar/24.1.127

Nowacki, 1997, The PAH mutation analysis consortium database: Update 1996, Nucleic Acids Res, 25, 139, 10.1093/nar/25.1.139

Nowacki, 1998, PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases, Nucleic Acids Res, 26, 220, 10.1093/nar/26.1.220

Erlandsen, 1997, Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria, Nature Struct Biol, 4, 995, 10.1038/nsb1297-995

Fusetti, 1998, Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria, J Biol Chem, 273, 16962, 10.1074/jbc.273.27.16962

Kobe, 1999, Structural basis of autoregulation of phenylalanine hydroxylase, Nature Struct Biol, 6, 442, 10.1038/8247

Goodwill, 1998, Crystal structure of tyrosine hydroxylase with bound cofactor analogue and iron at 2. 3A resolution: Self-hydroxylation of Phe300 and the pterin-binding site, Biochemistry, 37, 13437, 10.1021/bi981462g

Martinez, 1995, Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases, Biochem J, 306, 589, 10.1042/bj3060589

Flatmark, 1997, Molecular characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase, 503

Cooper, 1990, The mutational spectrum of single base-pair substitutions causing human genetic disease; patterns and predictions, Hum Genet, 85, 55, 10.1007/BF00276326

Jennings, 1991, Localization of cofactor binding sites with monoclonal anti-idiotype antibodies: phenylalanine hydroxylase, Proc Natl Acad Sci USA, 88, 5734, 10.1073/pnas.88.13.5734

Knappskog, 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, 10.1002/(SICI)1098-1004(1996)8:3<236::AID-HUMU7>3.0.CO;2-7

Bjørgo, 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, 10.1046/j.1432-1327.1998.2570001.x

Okano, 1991, Molecular basis of phenotypic heterogeneity in phenylketonuria, N Engl J Med, 324, 1232, 10.1056/NEJM199105023241802

Knappskog, 1993, Expression of wild-type and mutant forms of human phenylalanine hydroxylase in E. coli, 59

Baric, 1994, Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: Possible origin in southeastern Europe, J Inherit Metab Dis, 7, 376, 10.1007/BF00711838

Dworniczak, 1991, Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria, Genomics, 9, 193, 10.1016/0888-7543(91)90238-A

Okano, 1991, Phenylketonuria missense mutations in the Mediterranean, Genomics, 9, 96, 10.1016/0888-7543(91)90225-4

Benit, 1994, Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria, Hum Mutat, 4, 229, 10.1002/humu.1380040311

Guldberg, 1996, Phenylalanine hydroxylase gene mutations in the United States: Report from the Maternal PKU Collaborative Study, Am J Hum Genet, 59, 84

Knappskog, 1995, The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme, Hum Genet, 95, 171, 10.1007/BF00209396

De Lucca, 1998, Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations, Hum Mutat, 11, 354, 10.1002/(SICI)1098-1004(1998)11:5<354::AID-HUMU2>3.0.CO;2-W

Eiken, 1996, Relative frequency, heterogeneity, and geographic clustering of PKU mutations in Norway, Eur J Hum Genet, 4, 205, 10.1159/000472200

John, 1992, In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus, Hum Mutat, 1, 147, 10.1002/humu.1380010210

Waters, 1998, Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH), Hum Mutat, 12, 344, 10.1002/(SICI)1098-1004(1998)12:5<344::AID-HUMU8>3.0.CO;2-D

Okano, 1990, Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene, Am J Hum Genet, 46, 18

Wang, 1991, Missense mutations prevalent in Orientals with phenylketonuria: Molecular characterization and clinical implications, Genomics, 10, 449, 10.1016/0888-7543(91)90331-8

Svensson, 1993, Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients, Eur J Pediatr, 152, 132, 10.1007/BF02072490

DiLella, 1987, An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2, Nature, 327, 333, 10.1038/327333a0

Svensson, 1992, Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12, Hum Mutat, 1, 129, 10.1002/humu.1380010208

Tyfield, 1997, Sequence variation at the phenylalanine hydroxylase gene in the British Isles, Am J Hum Genet, 60, 388

Perez, 1994, Spectrum and origin of phenylketonuria mutations in Spain, Acta Paediatr Suppl, 407, 34, 10.1111/j.1651-2227.1994.tb13444.x

Mallolas, 1998, Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria, Hum Mutat, 11, 482, 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E

Guldberg, 1993, Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis, Genomics, 17, 141, 10.1006/geno.1993.1295

Caillaud, 1991, A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria, J Biol Chem, 266, 9351, 10.1016/S0021-9258(18)92824-3

DiLella, 1986, Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria, Nature, 322, 799, 10.1038/322799a0

Marvit, 1987, GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria, Nucleic Acids Res, 15, 5613, 10.1093/nar/15.14.5613

Kabsch, 1983, Dictionary of protein secondary structure:pattern recognition of hydrogen bonded and geometrical features, Biopolymers, 22, 2577, 10.1002/bip.360221211

Kayaalp, 1997, Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations, Am J Hum Genet, 61, 1309, 10.1086/301638

Forrest, 1991, Mutation detection in phenylketonuria by using chemical cleavage of mismatch: Importance of using probes from both normal and patient samples, Am J Hum Genet, 49, 175

Carter, 1995, Novel mutations and heterogeneity of the phenylalanine hydroxylase (PAH) gene on Quebec PKU chromosomes, Am J Hum Genet, 57, A161

Guldberg, 1994, Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients, Genomics, 21, 453, 10.1006/geno.1994.1296

Lichter-Konecki, U, Schlotter, M, Trefz, F, K, Konecki, D, S, Identification of the new mutations at the phenylalanine hydroxylase gene locus. Vth International Congress Inborn Errors of Metabolism W4.4, 1990, (abstract).

Li, 1994, Phenylketonuria in China: Identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene, Hum Mutat, 3, 312, 10.1002/humu.1380030323

Bosco, 1998, Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia, Hum Mutat, 11, 240, 10.1002/(SICI)1098-1004(1998)11:3<240::AID-HUMU9>3.0.CO;2-L

Horst, 1991, Molecular basis of phenylketonuria: Report of an extensive study of various Caucasian populations, Am J Hum Genet, 49, A2302

Eisensmith, 1995, Molecular basis of phenylketonuria in a heterogeneous US population (Abstract), Am J Hum Genet, 57, A163

Perez, 1997, Analysis of the phenylalanine hydroxylase gene in the Spanish population: Mutation profile and association with intragenic polymorphic markers, Am J Hum Genet, 60, 95

Ramus, 1995, Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: Origin of alleles and haplotypes, Am J Hum Genet, 56, 1034

Li, 1992, Identification of three novel missense PKU mutations among Chinese, Genomics, 13, 894, 10.1016/0888-7543(92)90180-Z

Takarada, 1993, Phenylketonuria mutant alleles in different populations: Missense mutation in exon 7 of phenylalanine hydroxylase gene, Clin Chem, 39, 2354, 10.1093/clinchem/39.11.2354

Shirahase, 1992, Genetic study on Japanese classical phenylketonuria (family analysis by PCR-SSCP analysis), Acta Pediatr Japan, 96, 939

Goltsov, 1994, Molecular basis of phenylketonuria in Egypt (abstract), Am J Hum Genet, 55, 1288

Kuzmin, 1995, Complete spectrum of PAH mutations in Tataria: Presence of Slavic, Turkic and Scandinavian mutations, Eur J Hum Genet, 3, 246, 10.1159/000472305

Zschocke, 1994, Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis, Hum Mutat, 4, 114, 10.1002/humu.1380040204

van der Sijs-Bos, 1996, Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis, Hum Hered, 46, 185, 10.1159/000154351

Hashem, 1996, Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt, Hum Genet, 98, 3, 10.1007/s004390050150

Popescu, 1994, Genotype-phenotype correlation in 11 Romanian PKU families, J Inherit Metab Dis, 17, 374, 10.1007/BF00711837

Dianzani, 1995, Characterization of phenylketonuria alleles in the Italian population, Eur J Hum Genet, 3, 294, 10.1159/000472313

Dworniczak, 1992, Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?, Hum Mutat, 1, 138, 10.1002/humu.1380010209

Zschocke, 1995, Phenylketonuria mutation analysis in Northern Ireland: A rapid stepwise approach, Am J Hum Genet, 57, 1311

Okano, 1994, Molecular and population genetics of phenylketonuria in Orientals: Correlation between phenotype and genotype, J Inherit Metab Dis, 17, 156, 10.1007/BF00735425

Perez, 1995, Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia, Hum Mutat, 5, 188, 10.1002/humu.1380050217

Caillaud, 1992, Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal, Hum Genet, 89, 69, 10.1007/BF00207045

Shirahase, 1991, A new single base substitution in a Japanese phenylketonuria (PKU) patient, Brain Dev, 13, 283, 10.1016/S0387-7604(12)80064-7

Leandro, P, Rivera, I, Ribeiro, V, Tavares de Almeida, I, Lechner, M, C, Sequencing analysis of PAH genomic DNA reveals 4 novel mutations affecting exons 7 and 11 in a Portugese PKU population. Abstr. SSIEM, Manchester, 1993.

Kleiman, 1993, Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria, Hum Mol Genet, 2, 605, 10.1093/hmg/2.5.605

Melle, 1991, Two distinct mutations at a single BamHI site in phenylketonuria, J Med Genet, 28, 38, 10.1136/jmg.28.1.38

Goebel-Schreiner, 1993, Identification of a new missense mutation in Japanese phenylketonuric patients, J Inherit Metab Dis, 16, 950, 10.1007/BF00711510

Labrune, 1991, Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria, Am J Hum Genet, 48, 1115

Takahashi, 1994, Ectopic transcription: An application to the analysis of splicing errors in phenylalanine hydroxylase mRNA, Acta Paediatr Suppl, 407, 45, 10.1111/j.1651-2227.1994.tb13449.x

Zygulska, 1994, Phenylketonuria in southern Poland: A new splice mutation in intron 9 at the PAH locus, Hum Mutat, 4, 297, 10.1002/humu.1380040412

Eisensmith, 1992, Molecular basis of phenylketonuria and related hyperphenylalaninemeias: Mutations and polymorphisms in the human phenylalanine gene, Hum Mutat, 1, 13, 10.1002/humu.1380010104

Kalaydjieva, 1992, Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles, Clin Genet, 41, 123, 10.1111/j.1399-0004.1992.tb03647.x

Economou-Petersen, 1992, Molecular basis for nonphenylketonuria hyperphenylalaninemia, Genomics, 14, 1, 10.1016/S0888-7543(05)80274-5

Rozen, 1994, Mutation profiles of phenylketonuria in Quebec populations: Evidence of stratification and novel mutations, Am J Hum Genet, 55, 321

Lichter-Konecki, 1988, Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene, Biochemistry, 27, 2881, 10.1021/bi00408a032

Weinstein, 1993, A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria, Hum Genet, 90, 645, 10.1007/BF00202483

Desviat, 1995, Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity, Am J Hum Genet, 57, 337

Desviat, 1996, Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity, J Inherit Metab Dis, 19, 227, 10.1007/BF01799436

Wang, 1991, Founder effect of a prevalent phenylketonuria mutation in the Oriental population, Proc Natl Acad Sci USA, 88, 2146, 10.1073/pnas.88.6.2146

Sullivan, 1985, Phenylalanine hydroxylase deletion mutant from a patient with classical PKU, Am J Hum Genet, 37, A177

Kleiman, 1992, A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs, Hum Mutat, 1, 340, 10.1002/humu.1380010413

Avigad, 1990, A single origin of phenylketonuria in Yemenite Jews, Nature, 344, 168, 10.1038/344168a0