DGUOK
2p13 MIM.601465 HGNC:2858 Entrez:1716
Purine deoxyribonucleoside analogs are extensively used in treatment of lymphoproliferative disorders. These compounds are administered as pro-drugs, and their efficiency is dependent on intracellular phosphorylation to the corresponding triphosphates.
In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by 2 deoxyribonucleoside kinases: cytosolic deoxycytidine kinase (DCK; EC 2.7.1.74; MIM.125450) and mitochondrial deoxyguanosine kinase (DGK; EC 2.7.1.113).
Pathology
germline mutations in mitochondrial DNA-depletion syndrome (MIM.251880)
References
Mandel, H.; Szargel, R.; Labay, V.; Elpeleg, O.; Saada, A.; Shalata, A.; Anbinder, Y.; Berkowitz, D.; Hartman, C.; Barak, M.; Eriksson, S.; Cohen, N. :
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genet. 29: 337-341, 2001. PubMed ID : #11687800#
Salviati, L.; Sacconi, S.; Mancuso, M.; Otaegui, D.; Camano, P.; Marina, A.; Rabinowitz, S.; Shiffman, R.; Thompson, K.; Wilson, C. M.; Feigenbaum, A.; Naini, A. B.; Hirano, M.; Bonilla, E.; DiMauro, S.; Vu, T. H. : Mitochondrial DNA depletion and dGK gene mutations. Ann. Neurol. 52: 311-316, 2002. PubMed ID : #12205643#
Taanman, J.-W.; Kateeb, I.; Muntau, A. C.; Jaksch, M.; Cohen, N.; Mandel, H. : A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Ann. Neurol. 52: 237-239, 2002. PubMed ID : #12210798#
Taanman, J.-W.; Muddle, J. R.; Muntau, A. C. : Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Hum. Molec. Genet. 12: 1839-1845, 2003. PubMed ID : #12874104#
Tadiboyina, V. T.; Rupar, A.; Atkison, P. Feigenbaum, A.; Kronick, J.; Wang, J.; Hegele, R. A. : Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. Am. J. Med. Genet. 135A: 289-291, 2005.