Advanced search
Publication Cover
Nucleosides, Nucleotides & Nucleic Acids Volume 36, 2017 - Issue 2
Submit an article Journal homepage
274
Views
3
CrossRef citations to date
0
Altmetric
Original Articles

Human HPRT1 gene and the Lesch–Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein

Khue Vu NguyenDepartment of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, CA, USA;Department of Pediatrics, University of California, San Diego, School of Medicine, San Diego, La Jolla, CA, USACorrespondence[email protected]
,
Robert K. NaviauxDepartment of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, CA, USA;Department of Pediatrics, University of California, San Diego, School of Medicine, San Diego, La Jolla, CA, USA;Department of Pathology, University of California, San Diego, School of Medicine, San Diego, La Jolla, CA, USA
&
William L. NyhanDepartment of Pediatrics, University of California, San Diego, School of Medicine, San Diego, La Jolla, CA, USA
Pages 151-157 | Received 21 Apr 2016, Accepted 25 Aug 2016, Published online: 03 Jan 2017

References

  • Lesch, M.; Nyhan, W.L. A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med. 1964, 36, 561–570.
  • Seegmiller, J.E.; Rosenbloom, F.M.; Kelley, W.N. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 1967, 155, 1682–1684.
  • Patel, P.I.; Framson, P.E.; Caskey, C.T.; Chinault, A.C. Fine structure of the human hypoxanthine phosphoribosyltransferase gene. Mol. Cell. Biol. 1986, 6, 396–403.
  • Fu, R.; Ceballos-Picot, I.; Torres, R.J.; Larovere, L.E.; Yamada, Y.; Nguyen, K.V.; Hegde, M.; Visser, J.E.; Schretlen, D.J.; Nyhan, W.L.; Puig, J.G.; O'Neill, 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 2014, 137, 1282–1303.
  • Nguyen, K.V.; Naviaux, R.K.; Paik, K.K.; Nyhan, W.L. Novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids 2011, 30, 440–445.
  • Shi, W.; Li, C.M.; Tyler, P.C.; Furneaux, R.H.; Grubmeyer, C.; Schramm, V.L.; Almo, S.C. The 2.0 A° structure of human hypoxanthine-guanine phosphoribosyl-transferase in complex with a transition-state analog inhibitor. Nat. Struct. Biol. 1999, 6, 588–593.
  • Duan, J.; Nilsson, L.; Lambert, B. Structure and functional analysis of mutations at the human hypoxanthine phosphoribosyltransferase (HPRT1) locus. Hum. Mutat. 2004, 23, 599–611.
  • Doig, A.J.; Baldwin, R.L. N-and C-capping preferences for all 20 amino acids in α-helical peptides. Prot. Sci. 1995, 4, 1325–1336.
  • Serrano, L.; Sancho, J.; Hirshberg, M.; Fersht, A.R. α-Helix stability in proteins I. Empirical correlations concerning substitution of side-chains at the N and C-caps and the replacement of alanine by glycine or serine at solvent-exposed surfaces. J. Mol. Biol. 1992, 227, 544–559.
  • Trigueros, G.M.; Torres, R.J. From genotype to phenotype; clinical variability in Lesch–Nyhan disease. The role of epigenetics. Rev. Clin. Esp. 2014, 214, 461–465.
  • Nguyen, K.V. Epigenetic regulation in amyloid precursor protein and the Lesch–Nyhan syndrome. Biochem. Biophys. Res. Commun. 2014, 446, 1091–1095.
  • Nguyen, K.V. The human β-amyloid precursor protein: biomolecular and epigenetic aspects. Biomol. Concepts 2015, 6, 11–32.
  • Nguyen, K.V. Epigenetic regulation in amyloid precursor protein with genomic rearrangements and the Lesch–Nyhan syndrome. Nucleosides Nucleotides Nucleic Acids 2015, 34, 674–690.
  • Kang, T.H.; Friedmann, T. Alzheimer's disease shares gene expression aberrations with purinergicdysregulation of HPRT deficiency (Lesch–Nyhan disease). Neurosci. Lett. 2015, 590, 35–39.
  • Knapp, D.J.; Breese, G.R. The use of perinatal 6-hydroxydopamine to produce a rodent model of Lesch–Nyhan disease. Curr. Top. Behav. Neurosci. 2016, 29, 265–277.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.