Transcriptomic approach to lesch-nyhan disease

Nucleosides, Nucleotides and Nucleic Acids

Volumn 33, Issue 4-6, 2014, Pages 208-217

  Dauphinot, Luce ^a   Mockel, Lionel ^b   Cahu, Julie ^b   Jinnah, H A ^c   Ledroit, Morgan ^b   Potier, Marie Claude ^a   Ceballos Picot, Irène ^b,d  

^a SORBONNE UNIVERSITÉ   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c EMORY UNIVERSITY   (United States)

^d Inserm U1163   (France)

Author keywords

gene ontology; HPRT; hypoxanthine phosphoribosyltransferase; Lesch Nyhan disease; microarray; transcriptome

Indexed keywords

CELL DIVISION CYCLE ASSOCIATED 8; CENTROMERE PROTEIN A; CENTROMERE PROTEIN F; CYCLIN B2; CYCLIN DEPENDENT KINASE 1; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL CYCLE; CELL DIVISION; CELL HYBRIDIZATION; CONTROLLED STUDY; DOWN REGULATION; FIBROBLAST; GENE EXPRESSION PROFILING; GENE ONTOLOGY; HUMAN; HUMAN CELL; LESCH NYHAN SYNDROME; MICROARRAY ANALYSIS; MITOSIS; PATHOGENESIS; PLURIPOTENT STEM CELL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; TRANSCRIPTOMICS; GENETICS; METABOLISM; PATHOLOGY;

FIBROBLASTS; GENE EXPRESSION PROFILING; GENE ONTOLOGY; HUMANS; LESCH-NYHAN SYNDROME;

EID: 84903130025     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770.2014.880477     Document Type: Article

References (32)

1. Fu, R.; Ceballos-Picot, I.; Torres, R.J.; Larovere, L.E.; Yamada, Y.; Nguyen, K.V.; Hegde, M.; Visser, J.; Schretlen, D.J.; Nyhan, W.L.; Puig, J.G.; ONeill, P.J.; Jinnah, H.A. for the Lesch-Nyhan Disease International Study Group. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain 2013,. Aug 22. [Epub ahead of print].
2. Torres, R.J.; Puig, J.G.; Ceballos-Picot, I. Clinical utility gene card for: Lesch-Nyhan syndrome-update 2013. Eur. J. Hum. Genet. 2013, e1-e3.
3. Sampat, R.; Fu, R.; Larovere, L.E.; Torres, R.J.; Ceballos-Picot, I.; Fischbach, M.; de Kremer, R.; Schretlen, D.J.; Puig, J.G.; Jinnah, H.A. Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants. Hum. Genet. 2011, 129, 71-78.
4. Fu, R.; Jinnah, H.A. Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene. J. Biol. Chem. 2012, 287, 2997-3008.
5. Ea, H.K.; Bardin, T.; Jinnah, H.A.; Aral, B.; Lioté, F.; Ceballos-Picot, I. Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase. Arthritis and Rheum. 2009, 60, 2201-2204.
6. Dussol, B.; Ceballos-Picot, I.; Aral, B.; Castera, V.; Philip, N.; Berland, Y. Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille). J. Inherit. Metab. Dis. 2004, 27, 543-545.
7. Jinnah, H.A.; Friedmann, T. Lesch-Nyhan disease and its variants, in The Metabolic and Molecular Bases of Inherited Disease, ed. C.R. Scriver., A.L. Beaudet., W.S. Sly., D. Valle., McGraw-Hill, New York, 2001, pp. 2537-2570.
8. Jinnah, H.A.; Visser, J.E.; Harris, J.C.; Verdu, A.; Larovere, L.; Ceballos-Picot, I.; Neychev, V.; Torres, R.J.; Dulac, O.; Desguerre, I.; Schretlen, D.J.; Robey, K.L.; Barabas, G.; Bloem, B.R.; Nyhan, W.L.; Kremer, R.; Eddey, G.E.; Puig, J.G.; Reich, S.G. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 2006, 129, 1201-1217.
9. Del Bigio, M.R.; W.C. Halliday. Multifocal atrophy of cerebellar internal granular neurons in Lesch-Nyhan disease: case reports and review. J. Neuropathol. Exp. Neurol. 2007, 66, 346-353.
10. Ceballos-Picot, I.; Mockel, L.; Potier, M.C.; Dauphinot, L.; Shirley, T.L.; Torero-Ibad, R.; Fuchs, J.; Jinnah, H.A. Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. Hum. Mol. Genet. 2009, 18, 2317-2327.
11. Guibinga, G.H.; Hsu, S.; Friedmann, T. Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis. Mol. Ther. 2010, 18, 54-62.
12. Harris, J.C.; Naidu, S.; Yokoi, F.; Marenco, S.; Dannals, R.F.; Ravert, H.T.; Yaster, M.; Evans, A.; Rousset, O.; Bryan, R.N.; Gjedde, A.; Kuhar, M.J.; Breese, G.R. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc. Natl. Acad. Sci. USA. 1996, 93, 5539-5543.
13. Ernst, M.; Zametkin, A.J.; Matochik, J.A.; Pascualvaca, D.; Jons, P.H.; Hardy, K.; Hankerson, J.G.; Doudet, D.J.; Cohen, R.M. Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N. Engl. J. Med. 1996, 334, 1568-1572.
14. Jinnah, H.A.; Wojcik, B.E.; Hunt, M.; Narang, N.; Lee, K.Y.; Goldstein, M.; Wamsley, J.K.; Langlais, P.J.; Friedmann, T. Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J. Neurosci. 1994, 14, 1164-1175.
15. Egami, K.; Yitta, S.; Kasim, S.; Lewers, J.C.; Roberts, R.C.; Lehar, M.; Jinnah, H.A. Basal ganglia dopamine loss due to defect in purine recycling. Neurobiol. Dis. 2007, 26, 396-407.
16. Cristini, S.; Navone, S.; Canzi, L.; Acerbi, F.; Ciusani, E.; Hladnik, U.; de Gemmis, P.; Alessandri, G.; Colombo, A.; Parati, E.; Invernici, G. Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects. Hum. Mol. Genet. 2010, 19, 1939-1950.
17. Guibinga, G.H.; Murray, F.; Barron, N. HPRT-deficiency dysregulates cAMP-PKA signaling and phosphodiesterase 10A expression: mechanistic insight and potential target for Lesch-Nyhan disease? PLoS One. 2013, 8, e63333.
18. Takahashi, K.; Tanabe, K.; Ohnuki, M.; Narita, M.; Ichisaka, T.; Tomoda, K.; Yamanaka, S. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007, 131, 861-872.
19. Eden, E.; Navon, R.; Steinfeld, I.; Lipson, D.; Yakhini, Z. GOrilla: A tool for discovery and visualization of enriched GO terms in ranked gene lists. BMC Bioinformatics 2009, 10, 48.
20. Lesch, M.; Nyhan, W.L. A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med. 1964, 36, 561-570.
21. Torres, R.J.; Puig, J.G. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J. Rare Dis. 2007, 2, 48.
22. Lewers, J.C.; Ceballos-Picot, I.; Shirley, T.L.; Mockel, L.; Egami, K.; Jinnah, H.A. Consequences of impaired purine recycling in dopaminergic neurons. Neuroscience 2008 Mar 27; 152 (3): 761-772.
23. Göttle, M.; Burhenne, H.; Sutcliffe, D.; Jinnah, H.A. Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling. J. Neurochem. 2013 Jul 13. doi: 10.1111/jnc.12366. [Epub ahead of print].
24. Yuan, Z.; Becker, E.; Merlo, P.; Yamada, T.; DiBacco, S.; Konishi, Y.; Schaefer, E.; Bonni, A. Activation of FOXO1 by Cdk1 in cycling cells and postmitotic neurons. Science 2008, 319, 1665-1668.
25. Sjostrom, S.K.; Finn, G.; Hahn, W.C.; Rowitch, D.H.; Kenney, A.M. The Cdk1 complex plays a prime role in regulating N-myc phosphorylation and turnover in neural precursors. Dev. Cell. 2005, 9, 327-338.
26. Gassmann, R.; Carvalho, A.; Henzing, A.J.; Ruchaud, S.; Hudson, D.F.; Honda, R.; Nigg, E.A.; Gerloff, D.L.; Earnshaw, W.C. Borealin: a novel chromosomal passenger required for stability of the bipolar mitotic spindle. J. Cell. Biol. 2004, 166, 179-191.
27. Mishra, S.K.; Braun, N.; Shukla, V.; Füllgrabe, M.; Schomerus, C.; Korf, H.W.; Gachet, C.; Ikehara, Y.; Sévigny, J.; Robson, S.C.; Zimmermann, H. Extracellular nucleotide signaling in adult neural stem cells: synergism with growth factor-mediated cellular proliferation. Development 2006, 133, 675-684.
28. Liu, X.; Hashimoto-Torii, K.; Torii, M.; Haydar, T.F.; Rakic, P. The role of ATP signaling in the migration of intermediate neuronal progenitors to the neocortical subventricular zone. Proc. Natl. Acad. Sci. USA 2008, 105, 11802-11807.
29. Neary, J.T.; Zimmermann, H. Trophic functions of nucleotides in the central nervous system. Trends Neurosci. 2009, 32, 189-198.
30. Burnstock, G. Purinergic signalling and disorders of the central nervous system. Nat. Rev. Drug. Discov. 2008, 7, 575-590.
31. Mastrangelo, L.; Kim, J.E.; Miyanohara, A.; Kang, T.H.; Friedmann, T. Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase. Proc. Natl. Acad. Sci. USA 2012, 109, 3377-3382.
32. Kang, T.H.; Guibinga, G.H.; Jinnah, H.A.; Friedmann, T. HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene? PLoS One 2011, 6