ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ

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ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ

ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ: Hypoxanthine-guanine phosphoribosyltransferase; HGPRT, HPRT[1]EC 2.4.2.8)は、プリン代謝酵素の1つ。

反応[編集]

この酵素は以下の反応を行う。

反応物 生成物 記述
ヒポキサンチン イノシン酸(イノシン一リン酸、IMP) -
グアニン グアニル酸(グアニン一リン酸、GMP) この反応をするときのみしばしばHGPRTと呼ばれる。
キサンチン キサンチル酸(キサントシン一リン酸、XMP) -

この酵素は主に退化したDNAからプリンの再合成を行う。その役割は、グアニンホスホリボシルピロリン酸(PRPP)からのGMPの合成、および、ヒポキサンチンとPRPPからのIMPの合成である。

突然変異[編集]

遺伝子の突然変異は高尿酸血症を誘引する。

関連項目[編集]

脚注[編集]

[ヘルプ]
  1. ^ Entrez Gene: hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)

参考文献[編集]

  • Sculley DG, Dawson PA, Emmerson BT, Gordon RB (1993). "A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.". Hum. Genet. 90 (3): 195-207. PMID 1487231.
  • Davidson BL, Tarlé SA, Van Antwerp M, et al. (1991). "Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.". Am. J. Hum. Genet. 48 (5): 951-8. PMID 2018042.
  • Stout JT, Caskey CT (1986). "HPRT: gene structure, expression, and mutation.". Annu. Rev. Genet. 19: 127-48. doi:10.1146/annurev.ge.19.120185.001015. PMID 3909940.
  • Sege-Peterson K, Chambers J, Page T, et al. (1993). "Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.". Hum. Mol. Genet. 1 (6): 427-32. PMID 1301916.
  • Lightfoot T, Joshi R, Nuki G, Snyder FF (1992). "The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.". Hum. Genet. 88 (6): 695-6. PMID 1551676.
  • Yamada Y, Goto H, Ogasawara N (1992). "Identification of two independent Japanese mutant HPRT genes using the PCR technique.". Adv. Exp. Med. Biol. 309B: 121-4. PMID 1840476.
  • Sculley DG, Dawson PA, Beacham IR, et al. (1991). "Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.". Hum. Genet. 87 (6): 688-92. PMID 1937471.
  • Tarlé SA, Davidson BL, Wu VC, et al. (1991). "Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.". Genomics 10 (2): 499-501. PMID 2071157.
  • Gordon RB, Sculley DG, Dawson PA, et al. (1991). "Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).". J. Inherit. Metab. Dis. 13 (5): 692-700. PMID 2246854.
  • Edwards A, Voss H, Rice P, et al. (1990). "Automated DNA sequencing of the human HPRT locus.". Genomics 6 (4): 593-608. PMID 2341149.
  • Gibbs RA, Nguyen PN, Edwards A, et al. (1990). "Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.". Genomics 7 (2): 235-44. PMID 2347587.
  • Skopek TR, Recio L, Simpson D, et al. (1990). "Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.". Hum. Genet. 85 (1): 111-6. PMID 2358296.
  • Davidson BL, Tarlé SA, Palella TD, Kelley WN (1989). "Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.". J. Clin. Invest. 84 (1): 342-6. PMID 2738157.
  • Ogasawara N, Stout JT, Goto H, et al. (1989). "Molecular analysis of a female Lesch-Nyhan patient.". J. Clin. Invest. 84 (3): 1024-7. PMID 2760209.
  • Yang TP, Stout JT, Konecki DS, et al. (1988). "Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.". Somat. Cell Mol. Genet. 14 (3): 293-303. PMID 2835825.
  • Fujimori S, Hidaka Y, Davidson BL, et al. (1988). "Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).". Hum. Genet. 79 (1): 39-43. PMID 2896620.
  • Davidson BL, Pashmforoush M, Kelley WN, Palella TD (1989). "Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).". J. Biol. Chem. 264 (1): 520-5. PMID 2909537.
  • Fujimori S, Davidson BL, Kelley WN, Palella TD (1989). "Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.". J. Clin. Invest. 83 (1): 11-3. PMID 2910902.

外部リンク[編集]