Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency

Human Molecular Genetics

Volumn 21, Issue 7, 2012, Pages 1534-1543

  Baresova, Veronika ^a,b   Skopova, Vaclava ^a,b   Sikora, Jakub ^a   Patterson, David ^c   Sovova, Jana ^a,b   Zikanova, Marie ^a,b   Kmoch, Stanislav ^a,b  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY OF DENVER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOIMIDAZOLE 4 CARBOXAMIDE RIBONUCLEOTIDE FORMYLTRANSFERASE; ADENYLOSUCCINATE LYASE; AMINOIMIDAZOLCARBOXAMIDE RIBOSIDE; MULTIENZYME COMPLEX; PURINOSOME; UNCLASSIFIED DRUG;

ADENYLOSUCCINATE LYASE DEFICIENCY; AMINOIMIDAZOLCARBOXAMIDE RIBOSIDURIA; ANTIBODY LABELING; ARTICLE; ATIC GENE; CARCINOMA CELL; CELL CULTURE; CONTROLLED STUDY; EMBRYO; FLUORESCENCE MICROSCOPY; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; KERATINOCYTE; KIDNEY CELL; LIVER CELL CARCINOMA; OSTEOSARCOMA; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DEPLETION; PURINE SYNTHESIS; SKIN FIBROBLAST;

ADENYLOSUCCINATE LYASE; CELL LINE, TUMOR; CELLS, CULTURED; FIBROBLASTS; HELA CELLS; HUMANS; HYDROXYMETHYL AND FORMYL TRANSFERASES; KERATINOCYTES; MULTIENZYME COMPLEXES; MUTATION; NUCLEOTIDE DEAMINASES; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; PURINES; SKIN;

EID: 84858214646     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr591     Document Type: Article

References (25)

1. Krijt, J., Kmoch, S., Hartmannova, H., Havlicek, V. and Sebesta, I. (1999) Identification and determination of succinyladenosine in human cerebrospinal fluid. J. Chromatogr. B Biomed. Sci. Appl., 726, 53-58.
2. An, S., Kumar, R., Sheets, E.D. and Benkovic, S.J. (2008) Reversible compartmentalization of de novo purine biosynthetic complexes in living cells. Science, 320, 103-106.
3. Narayanaswamy, R., Levy, M., Tsechansky, M., Stovall, G.M., O'Connell, J.D., Mirrielees, J., Ellington, A.D. and Marcotte, E.M. (2009) Widespread reorganization of metabolic enzymes into reversible assemblies upon nutrient starvation. Proc. Natl Acad. Sci. USA, 106, 10147-10152.
4. Marie, S., Heron, B., Bitoun, P., Timmerman, T., Van Den Berghe, G. and Vincent, M.F. (2004) AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am. J. Hum. Genet., 74, 1276-1281.
5. Van den Bergh, F., Vincent, M.F., Jaeken, J. and Van den Berghe, G. (1993) Residual adenylosuccinase activities in fibroblasts of adenylosuccinase- deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl. J. Inherit. Metab. Dis., 16, 415-424.
6. Van den Bergh, F., Vincent, M.F., Jaeken, J. and Van den Berghe, G. (1993) Functional studies in fibroblasts of adenylosuccinase-deficient children. J. Inherit. Metab. Dis., 16, 425-434.
7. Spiegel, E.K., Colman, R.F. and Patterson, D. (2006) Adenylosuccinate lyase deficiency. Mol. Genet. Metab., 89, 19-31.
8. Mouchegh, K., Zikanova, M., Hoffmann, G.F., Kretzschmar, B., Kuhn, T., Mildenberger, E., Stoltenburg-Didinger, G., Krijt, J., Dvorakova, L., Honzik, T., Zeman, J., Kmoch, S. and Rossi, R. (2007) Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. J. Pediatr., 150, 57-61.e52.
9. Jurecka, A., Zikanova, M., Tylki-Szymanska, A., Krijt, J., Bogdanska, A., Gradowska, W., Mullerova, K., Sykut-Cegielska, J., Kmoch, S. and Pronicka, E. (2008) Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. Mol. Genet. Metab., 94, 435-442.
10. Gitiaux, C., Ceballos-Picot, I., Marie, S., Valayannopoulos, V., Rio, M., Verrieres, S., Benoist, J.F., Vincent, M.F., Desguerre, I. and Bahi-Buisson, N. (2009) Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur. J. Hum. Genet., 17, 133-136.
11. Sempere, A., Arias, A., Farre, G., Garcia-Villoria, J., Rodriguez-Pombo, P., Desviat, L.R., Merinero, B., Garcia-Cazorla, A., Vilaseca, M.A., Ribes, A., Artuch, R. and Campistol, J. (2010) Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. J. Inherit. Metab. Dis., 33, 1-7.
12. Perez-Duenas, B., Sempere, A., Campistol, J., Alonso-Colmenero, I., Diez, M., Gonzalez, V., Merinero, B., Desviat, L.R. and Artuch, R. (2011) Novel features in the evolution of adenylosuccinate lyase deficiency. Eur. J. Paediatr. Neurol., doi:10.1016/j.ejpn.2011.08.008.
13. Chen, B.C., McGown, I.N., Thong, M.K., Pitt, J., Yunus, Z.M., Khoo, T.B., Ngu, L.H. and Duley, J.A. (Feb 23, 2010) Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. J. Inherit. Metab. Dis., doi:10.1007/s10545-010-9056-z.
14. Lundy, C.T., Jungbluth, H., Pohl, K.R., Siddiqui, A., Marinaki, A.M., Mundy, H. and Champion, M.P. (2010) Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. Pediatr. Neurol., 43, 351-354.
15. Jaeken, J., Wadman, S.K., Duran, M., van Sprang, F.J., Beemer, F.A., Holl, R.A., Theunissen, P.M., de Cock, P., van den Bergh, F., Vincent, M.F. and van den Berghe, G. (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur. J. Pediatr., 148, 126-131.
16. Kmoch, S., Hartmannova, H., Stiburkova, B., Krijt, J., Zikanova, M. and Sebesta, I. (2000) Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. Hum. Mol. Genet., 9, 1501-1513.
17. Zikanova, M., Skopova, V., Hnizda, A., Krijt, J. and Kmoch, S. (2010) Biochemical and structural analysis of 14 mutant ADSL enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. Hum. Mutat., 31, 445-455.
18. An, S., Kyoung, M., Allen, J.J., Shokat, K.M. and Benkovic, S.J. (2010) Dynamic regulation of a metabolic multi-enzyme complex by protein kinase CK2. J. Biol. Chem., 285, 11093-11099.
19. Field, M.S., Anderson, D.D. and Stover, P.J. (June 20, 2011) Mthfs is an essential gene in mice and a component of the purinosome. Front. Gene., doi:10.3389/fgene.2011.00036.
20. An, S., Deng, Y., Tomsho, J.W., Kyoung, M. and Benkovic, S.J. (2010) Microtubule-assisted mechanism for functional metabolic macromolecular complex formation. Proc. Natl Acad. Sci. USA, 107, 12872-12876.
21. Manders, E.M.M., Verbeek, F.J. and Aten, J.A. (1993) Measurement of colocalization of objects in dual-color confocal images. J. Microsc., 169, 375-382.
22. Greasley, S.E., Horton, P., Ramcharan, J., Beardsley, G.P., Benkovic, S.J. and Wilson, I.A. (2001) Crystal structure of a bifunctional transformylase and cyclohydrolase enzyme in purine biosynthesis. Nat. Struct. Biol., 8, 402-406.
23. Vliet, L.K., Wilkinson, T.G. 2nd, Duval, N., Vacano, G., Graham, C., Zikanova, M., Skopova, V., Baresova, V., Hnizda, A., Kmoch, S. and Patterson, D. (2011) Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. Mol. Genet. Metab., 102, 61-68.
24. Marie, S., Race, V., Vincent, M.F. and Van den Berghe, G. (2000) Adenylosuccinate lyase deficiency: from the clinics to molecular biology. Adv. Exp. Med. Biol., 486, 79-82.
25. Landmann, L. (2002) Deconvolution improves colocalization analysis of multiple fluorochromes in 3D confocal data sets more than filtering techniques. J. Microsc., 208, 134-147.