Comparative homology modelling of this enzyme in L. donovani(英语:L. donovani) suggest that among all of the computationally screened compounds, pentamidine(英语:pentamidine), 1,3-dinitroadamantane, acyclovir and analogs of acyclovir had higher binding affinities than the real substrate (guanosine monophosphate).[3]
HPRT expression on the mRNA and protein level is induced by hypoxia inducible factor 1 (HIF1A(英语:HIF1A)). HIF-1 is a transcription factor that directs an array of cellular responses that are used for adaptation during oxygen deprivation. This finding implies that HPRT is a critical pathway that helps preserve the cell's purine nucleotide resources under hypoxic conditions as found in pathology such as myocardial ischemia.[6]
^Finette BA, Kendall H, Vacek PM. Mutational spectral analysis at the HPRT locus in healthy children. Mutation Research. Aug 2002, 505 (1-2): 27–41. PMID 12175903. doi:10.1016/S0027-5107(02)00119-7.
^Ansari MY, Dikhit MR, Sahoo GC, Das P. Comparative modeling of HGPRT enzyme of L. donovani and binding affinities of different analogs of GMP. International Journal of Biological Macromolecules. Apr 2012, 50 (3): 637–49. PMID 22327112. doi:10.1016/j.ijbiomac.2012.01.010.
^Khattak FH, Morris IM, Harris K. Kelley-Seegmiller syndrome: a case report and review of the literature. British Journal of Rheumatology. May 1998, 37 (5): 580–1. PMID 9651092. doi:10.1093/rheumatology/37.5.580c.
^Hladnik U, Nyhan WL, Bertelli M. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Archives of Neurology. Sep 2008, 65 (9): 1240–3. PMID 18779430. doi:10.1001/archneur.65.9.1240.
^Wu J, Bond C, Chen P, Chen M, Li Y, Shohet RV, Wright G. HIF-1α in the heart: Remodeling nucleotide metabolism. Journal of Molecular and Cellular Cardiology. Feb 2015, 82: 194–200. PMID 25681585. doi:10.1016/j.yjmcc.2015.01.014.
^Ansari MY, Equbal A, Dikhit MR, Mansuri R, Rana S, Ali V, Sahoo GC, Das P. Establishment of Correlation between In-Silico &In-Vitro Test Analysis against Leishmania HGPRT to inhibitors. International Journal of Biological Macromolecules. Nov 2015, 83: 78–96. PMID 26616453. doi:10.1016/j.ijbiomac.2015.11.051.
延伸閱讀
Sculley DG, Dawson PA, Emmerson BT, Gordon RB. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Human Genetics. Nov 1992, 90 (3): 195–207. PMID 1487231. doi:10.1007/bf00220062.
Ansari MY, Dikhit MR, Sahoo GC, Das P. Comparative modeling of HGPRT enzyme of L. donovani and binding affinities of different analogs of GMP. International Journal of Biological Macromolecules. Apr 2012, 50 (3): 637–49. PMID 22327112. doi:10.1016/j.ijbiomac.2012.01.010.
Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan WL. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Human Molecular Genetics. Sep 1992, 1 (6): 427–32. PMID 1301916. doi:10.1093/hmg/1.6.427.
Lightfoot T, Joshi R, Nuki G, Snyder FF. The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction. Human Genetics. Mar 1992, 88 (6): 695–6. PMID 1551676. doi:10.1007/BF02265300.
Yamada Y, Goto H, Ogasawara N. Identification of two independent Japanese mutant HPRT genes using the PCR technique. Advances in Experimental Medicine and Biology. Advances in Experimental Medicine and Biology. 1992, 309B: 121–4. ISBN 978-1-4615-7705-8. PMID 1840476. doi:10.1007/978-1-4615-7703-4_27.
Sculley DG, Dawson PA, Beacham IR, Emmerson BT, Gordon RB. Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification. Human Genetics. Oct 1991, 87 (6): 688–92. PMID 1937471. doi:10.1007/BF00201727.
Tarlé SA, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD. Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. Genomics. Jun 1991, 10 (2): 499–501. PMID 2071157. doi:10.1016/0888-7543(91)90341-B.
Gordon RB, Sculley DG, Dawson PA, Beacham IR, Emmerson BT. Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE). Journal of Inherited Metabolic Disease. 1991, 13 (5): 692–700. PMID 2246854. doi:10.1007/BF01799570.
Edwards A, Voss H, Rice P, Civitello A, Stegemann J, Schwager C, Zimmermann J, Erfle H, Caskey CT, Ansorge W. Automated DNA sequencing of the human HPRT locus. Genomics. Apr 1990, 6 (4): 593–608. PMID 2341149. doi:10.1016/0888-7543(90)90493-E.
Gibbs RA, Nguyen PN, Edwards A, Civitello AB, Caskey CT. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics. Jun 1990, 7 (2): 235–44. PMID 2347587. doi:10.1016/0888-7543(90)90545-6.
Skopek TR, Recio L, Simpson D, Dallaire L, Melancon SB, Ogier H, O'Neill JP, Falta MT, Nicklas JA, Albertini RJ. Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures. Human Genetics. Jun 1990, 85 (1): 111–6. PMID 2358296. doi:10.1007/BF00276334.
Yang TP, Stout JT, Konecki DS, Patel PI, Alford RL, Caskey CT. Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement. Somatic Cell and Molecular Genetics. May 1988, 14 (3): 293–303. PMID 2835825. doi:10.1007/BF01534590.
Fujimori S, Hidaka Y, Davidson BL, Palella TD, Kelley WN. Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor). Human Genetics. May 1988, 79 (1): 39–43. PMID 2896620. doi:10.1007/BF00291707.
Davidson BL, Pashmforoush M, Kelley WN, Palella TD. Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville). The Journal of Biological Chemistry. Jan 1989, 264 (1): 520–5. PMID 2909537.