Arts syndrome is caused by loss-of-function mutations in PRPS1

American Journal of Human Genetics

Volumn 81, Issue 3, 2007, Pages 507-518

  De Brouwer, Arjan P M ^a   Williams, Kelly L ^b   Duley, John A ^b,e,f   Van Kuilenburg, André B P ^g   Nabuurs, Sander B ^a   Egmont Petersen, Michael ^a   Lugtenberg, Dorien ^a   Zoetekouw, Lida ^g   Banning, Martijn J G ^a   Roeffen, Melissa ^a   Hamel, Ben C J ^a   Weaving, Linda ^c   Ouvrier, Robert A ^c,d   Donald, Jennifer A ^e,f   Wevers, Ron A ^a   Christodoulou, John ^c,d   Van Bokhoven, Hans ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MACQUARIE UNIVERSITY   (Australia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e UNIVERSITY OF QUEENSLAND   (Australia)

^f MATER HOSPITAL   (Australia)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CULLIN; CULLIN 4B; HYPOXANTHINE; RIBOSEPHOSPHATE PYROPHOSPHOKINASE; UNCLASSIFIED DRUG; URIC ACID;

ARTICLE; ARTS SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA MICROARRAY; ENZYME ACTIVITY; ERYTHROCYTE; FIBROBLAST; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PURINE SYNTHESIS; URIC ACID BLOOD LEVEL; X CHROMOSOME LINKED DISORDER;

EID: 34548290398     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/520706     Document Type: Article

References (61)

1. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for accession numbers NM_003588.3, NM_002764.2, and NM_012471.2 and those in tables 1 and 3)
2. NCBI Map Viewer, http://www.ncbi.nlm.nih.gov/mapview/ (for build 36.2)
3. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/ Omim/ (for PRPS1, PRPS2, PRPS-related gout, orotic aciduria, Arts syndrome, HPRT1 deficiency, PNP deficiency, GUSB, CUL4B, TRPC5, GJB2, ACSL4, AGTR2, PAK3, UBE2A, C1GALT1C1, PLS3, IL13RA1, Lesch-Nyhan syndrome, and adenosine deaminase deficiency)
4. Primer3, http://frodo.wi.mit.edu/cgi-bin/primer3/primer3_www.cgi
5. RCSB Protein Data Bank, http://www.pdb.org/
6. SIFT, http://blocks.fhcrc.org/sift/SIFT.html
7. UCSC Genome Browser, http://www.genome.ucsc.edu/
8. YASARA, http://www.yasara.org/
9. Becker MA (2001) Phosphoribosylpyrophosphate synthetase and the regulation of phosphoribosylpyrophosphate production in human cells. Prog Nucleic Acid Res Mol Biol 69:115-148
10. Becker MA, Heidler SA, Bell GI, Seino S, Le Beau MM, Westbrook CA, Neuman W, Shapiro LJ, Mohandas TK, Roessler BJ (1990) Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes. Genomics 8:555-561
11. Taira M, Iizasa T, Yamada K, Shimada H, Tatibana M (1989) Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript. Biochim Biophys Acta 1007:203-208
12. Becker MA, Taylor W, Smith PR, Ahmed M (1996) Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. J Biol Chem 271:19894-19899
13. Becker MA, Losman MJ, Kim M (1987) Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases. J Biol Chem 262:5596-5602
14. Sperling O, Boer P, Persky-Brosh S, Kanarek E, De Vries A (1972) Altered kinetic property of erythrocyte phosphoribosylpyrophosphate synthetase in excessive purine production. Rev Eur Etud Clin Biol 17:703-706
15. Zoref E, De Vries A, Sperling O (1975) Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout: phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts. J Clin Invest 56:1093-1099
16. Becker MA, Puig JG, Mateos FA, Jimenez ML, Kim M, Simmonds HA (1988) Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. Am J Med 85:383-390
17. Becker MA, Raivio KO, Bakay B, Adams WB, Nyhan WL (1980) Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest 65:109-120
18. Becker MA, Smith PR, Taylor W, Mustafi R, Switzer RL (1995) The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. J Clin Invest 96:2133-2141
19. Simmonds HA, Webster DR, Lingam S, Wilson J (1985) An inborn error of purine metabolism, deafness and neurodevelopmental abnormality. Neuropediatrics 16:106-108
20. Nyhan WL (2005) Disorders of purine and pyrimidine metabolism. Mol Genet Metab 86:25-33
21. Page T, Yu J, Fontanesi WL, Nyhan WL (1997) Developmental disorder associated with increased cellular nucleotidases activity. Proc Natl Acad Sci USA 94:11601-11606
22. Arts WF, Loonen MC, Sengers RC, Slooff JL (1993) X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol 33:535-539
23. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
24. Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, et al (2003) Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet A 118:103-114
25. Wall FE, Henkel RD, Stern MP, Jenson HB, Moyer MP (1995) An efficient method for routine Epstein-Barr virus immortalization of human B lymphocytes. In Vitro Cell Dev Biol Anim 31:156-159
26. Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132:365-386
27. de Brouwer AP, van Bokhoven H, Kremer H (2006) Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts. Mol Diagn Ther 10:197-204
28. -ΔΔC↑, method. Methods 25:402-408
29. Pfaffl MW (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29:e45
30. 2+ entry channel. Genomics 60:330-340
31. Li S, Lu Y, Peng B, Ding J (2007) Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric site. Biochem J 401:39-47
32. Krieger E, Darden T, Nabuurs SB, Finkelstein A, Vriend G (2004) Making optimal use of empirical energy functions: force-field parameterization in crystal space. Proteins 57:678-683
33. Montero C, Duley JA, Fairbanks LD, McBride MB, Micheli V, Cant AJ, Morgan G (1995) Demonstration of induction of erythrocyte inosine monophosphate dehydrogenase activity in Ribavirin-treated patients using a high performance liquid chromatography linked method. Clin Chim Acta 238:169-178
34. Smith PK, Krohn RI, Hermanson GT, Mallia AK, Gartner FH, Provenzano MD, Fujimoto EK, Goeke NM, Olson BJ, Klenk DC (1985) Measurement of protein using bicinchoninic acid. Anal Biochem 150:76-85
35. Torres RJ, Mateos FA, Puig JG, Becker MA (1996) Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method. Clin Chim Acta 245:105-112
36. Simmonds HA, Duley JA, Davies PM (1990) Analysis of purines and pyrimidines in blood, urine and other physiological fluids. In: Hommes FA (ed) Techniques in diagnostic human biochem genetics. Wiley-Liss, New York, pp 397-424
37. de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, et al (2007) Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 28:207-208
38. Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC (1996) Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood. Hum Genet 98:513-517
39. Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, et al (2006) Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet 43:362-370
40. Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc B 57:289-300
41. Ju T, Cummings RD (2005) Protein glycosylation: chaperone mutation in Tn syndrome. Nature 437:1252
42. 2+-permeable nonselective cation channels. Cell Calcium 33:441-450
43. Riccio A, Medhurst AD, Mattei C, Kelsell RE, Calver AR, Randall AD, Benham CD, Pangalos MN (2002) mRNA distribution analysis of human TRPC family in CNS and peripheral tissues. Brain Res Mol Brain Res 109:95-104
44. Schaefer M, Plant TD, Obukhov AG, Hofmann T, Gudermann T, Schultz G (2000) Receptor-mediated regulation of the non-selective cation channels TRPC4 and TRPC5. J Biol Chem 275:17517-17526
45. Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, et al (2007) Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 80:345-352
46. Siepel A, Bejerano G, Pedersen JS, Hinrichs AS, Hou M, Rosenbloom K, Clawson H, Spieth J, Hillier LW, Richards S, et al (2005) Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res 15:1034-1050
47. Ng PC, Henikoff S (2002) Accounting for human polymorphisms predicted to affect protein function. Genome Res 12:436-446
48. Rees DC, Duley J, Simmonds HA, Wonke B, Thein SL, Clegg JB, Weatherall DJ (1996) Interaction of hemoglobin E and pyrimidine 5′ nucleotidase deficiency. Blood 88:2761-2767
49. Garcia-Pavia P, Torres RJ, Rivero M, Ahmed M, Garcia-Puig J, Becker MA (2003) Phosphoribosyl pyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. Arthritis Rheum 48:2036-2041
50. Becker MA, Losman MJ, Wilson J, Simmonds HA (1986) Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate. Biochim Biophys Acta 882:168-176
51. Christen HJ, Hanefeld F, Duley JA, Simmonds HA (1992) Distinct neurological syndrome in two brothers with hyperuricaemia. Lancet 340:1167-1168
52. Ross BM, Moszczynska A, Blusztajn JK, Sherwin A, Lozano A, Kish SJ (1997) Phospholipid biosynthetic enzymes in human brain. Lipids 32:351-358
53. Montero C, Smolenski RT, Duley JA, Simmonds HA (1990) S-adenosylmethionine increases erythrocyte ATP in vitro by a route independent of adenosine kinase. Biochem Pharmacol 40:2617-2623
54. Simmonds HA, Fairbanks LD, Duley JA, Morris GS (1989) ATP formation from deoxyadenosine in human erythrocytes: evidence for a hitherto unidentified route involving adenine and S-adenosylhomocysteine hydrolase. Biosci Rep 9:75-85
55. Smolenski RT, Montero C, Duley JA, Simmonds HA (1991) Effects of adenosine analogues on ATP concentrations in human erythrocytes: further evidence for a route independent of adenosine kinase. Biochem Pharmacol 42:1767-1773
56. Smolenski RT, Fabianowska-Majewska K, Montero C, Duley JA, Fairbanks LD, Marlewski M, Simmonds HA (1992) A novel route of ATP synthesis. Biochem Pharmacol 43:2053-2057
57. Schuster S, Kenanov D (2005) Adenine and adenosine salvage pathways in erythrocytes and the role of S-adenosylhomocysteine hydrolase: a theoretical study using elementary flux modes. FEBS J 272:5278-5290
58. Stow RA, Bronk JR (1993) Purine nucleoside transport and metabolism in isolated rat jejunum. J Physiol 468:311-324
59. Bottiglieri T (2002) S-adenosyl-L-methionine (SAMe): from the bench to the bedside - molecular basis of a pleiotrophic molecule. Am J Clin Nutr 76:1151S-1157S
60. Glick N (2006) Dramatic reduction in self-injury in LeschNyhan disease following S-adenosylmethionine administration. J Inherit Metab Dis 29:687
61. Becroft DM, Phillips LI, Simmonds A (1969) Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. J Pediatr 75:885-891