Hypoxanthine-guanine phosphoribosyltransferase

Hypoxanthine-guanine phosphoribosyltransferase

Hypoxanthine-guanine phosphoribosyltransferase (HPRTcite web |url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=3251&rn=1 |title=Entrez Gene: hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)] ) is an enzyme in purine metabolism. PBB_Summary
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Functions

It catalyzes the following reactions:

The enzyme primarily functions to salvage purines from degraded DNA to renewed purine synthesis. In this role, it acts as a catalyst in the reaction between guanine and phosphoribosyl pyrophosphate (PRPP) to form GMP.

B cells contain this enzyme which enables them to survive when fused to myeloma cells when grown on HAT medium to produce monoclonal antibodies.

Role in disease

Mutations in the gene lead to hyperuricemia:
* Lesch-Nyhan syndrome is due to HPRT mutations.
* Some mutations have been linked to gout, the risk of which is increased in hyperuricemia.

ee also

* Nucleotide salvage

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Sculley DG, Dawson PA, Emmerson BT, Gordon RB |title=A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency |journal=Hum. Genet. |volume=90 |issue= 3 |pages= 195–207 |year= 1993 |pmid= 1487231 |doi=
*cite journal | author=Davidson BL, Tarlé SA, Van Antwerp M, "et al." |title=Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency |journal=Am. J. Hum. Genet. |volume=48 |issue= 5 |pages= 951–8 |year= 1991 |pmid= 2018042 |doi=
*cite journal | author=Stout JT, Caskey CT |title=HPRT: gene structure, expression, and mutation |journal=Annu. Rev. Genet. |volume=19 |issue= |pages= 127–48 |year= 1986 |pmid= 3909940 |doi= 10.1146/annurev.ge.19.120185.001015
*cite journal | author=Sege-Peterson K, Chambers J, Page T, "et al." |title=Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency |journal=Hum. Mol. Genet. |volume=1 |issue= 6 |pages= 427–32 |year= 1993 |pmid= 1301916 |doi=10.1093/hmg/1.6.427
*cite journal | author=Lightfoot T, Joshi R, Nuki G, Snyder FF |title=The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction |journal=Hum. Genet. |volume=88 |issue= 6 |pages= 695–6 |year= 1992 |pmid= 1551676 |doi= 10.1007/BF02265300
*cite journal | author=Yamada Y, Goto H, Ogasawara N |title=Identification of two independent Japanese mutant HPRT genes using the PCR technique |journal=Adv. Exp. Med. Biol. |volume=309B |issue= |pages= 121–4 |year= 1992 |pmid= 1840476 |doi=
*cite journal | author=Sculley DG, Dawson PA, Beacham IR, "et al." |title=Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification |journal=Hum. Genet. |volume=87 |issue= 6 |pages= 688–92 |year= 1991 |pmid= 1937471 |doi= 10.1007/BF00201727
*cite journal | author=Tarlé SA, Davidson BL, Wu VC, "et al." |title=Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects |journal=Genomics |volume=10 |issue= 2 |pages= 499–501 |year= 1991 |pmid= 2071157 |doi= 10.1016/0888-7543(91)90341-B
*cite journal | author=Gordon RB, Sculley DG, Dawson PA, "et al." |title=Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE) |journal=J. Inherit. Metab. Dis. |volume=13 |issue= 5 |pages= 692–700 |year= 1991 |pmid= 2246854 |doi=10.1007/BF01799570
*cite journal | author=Edwards A, Voss H, Rice P, "et al." |title=Automated DNA sequencing of the human HPRT locus |journal=Genomics |volume=6 |issue= 4 |pages= 593–608 |year= 1990 |pmid= 2341149 |doi= 10.1016/0888-7543(90)90493-E
*cite journal | author=Gibbs RA, Nguyen PN, Edwards A, "et al." |title=Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families |journal=Genomics |volume=7 |issue= 2 |pages= 235–44 |year= 1990 |pmid= 2347587 |doi= 10.1016/0888-7543(90)90545-6
*cite journal | author=Skopek TR, Recio L, Simpson D, "et al." |title=Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures |journal=Hum. Genet. |volume=85 |issue= 1 |pages= 111–6 |year= 1990 |pmid= 2358296 |doi= 10.1007/BF00276334
*cite journal | author=Davidson BL, Tarlé SA, Palella TD, Kelley WN |title=Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts |journal=J. Clin. Invest. |volume=84 |issue= 1 |pages= 342–6 |year= 1989 |pmid= 2738157 |doi= 10.1172/JCI114160
*cite journal | author=Ogasawara N, Stout JT, Goto H, "et al." |title=Molecular analysis of a female Lesch-Nyhan patient |journal=J. Clin. Invest. |volume=84 |issue= 3 |pages= 1024–7 |year= 1989 |pmid= 2760209 |doi= 10.1172/JCI114224
*cite journal | author=Yang TP, Stout JT, Konecki DS, "et al." |title=Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement |journal=Somat. Cell Mol. Genet. |volume=14 |issue= 3 |pages= 293–303 |year= 1988 |pmid= 2835825 |doi= 10.1007/BF01534590
*cite journal | author=Fujimori S, Hidaka Y, Davidson BL, "et al." |title=Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor) |journal=Hum. Genet. |volume=79 |issue= 1 |pages= 39–43 |year= 1988 |pmid= 2896620 |doi= 10.1007/BF00291707
*cite journal | author=Davidson BL, Pashmforoush M, Kelley WN, Palella TD |title=Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville) |journal=J. Biol. Chem. |volume=264 |issue= 1 |pages= 520–5 |year= 1989 |pmid= 2909537 |doi=
*cite journal | author=Fujimori S, Davidson BL, Kelley WN, Palella TD |title=Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome |journal=J. Clin. Invest. |volume=83 |issue= 1 |pages= 11–3 |year= 1989 |pmid= 2910902 |doi= 10.1172/JCI113846

External links

* [http://www.genome.jp/kegg/pathway/map/map00230.html Purine metabolism at genome.jp]
*

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