IMPDH1 explained

Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.^{[1] [2]}

Function

IMP dehydrogenase 1 acts as a homotetramer to regulate cell growth. IMPDH1 is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides.^[1]

Clinical significance

Defects in the IMPDH1 gene are a cause of retinitis pigmentosa type 10 (RP10).^{[1] [3] [4]}

See also

• IMP dehydrogenase

Further reading

• Mortimer SE, Xu D, McGrew D, etal . IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA. . J. Biol. Chem. . 283 . 52 . 36354–60 . 2008 . 18974094 . 10.1074/jbc.M806143200 . 2605994 . free .
• Ohmann EL, Burckart GJ, Brooks MM, etal . Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients . The Journal of Heart and Lung Transplantation . 29. 5. 509–516 . 2010 . 20061166 . 10.1016/j.healun.2009.11.602 .
• Grover S, Fishman GA, Stone EM . A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa . Ophthalmology . 111 . 10 . 1910–6 . 2004 . 15465556 . 10.1016/j.ophtha.2004.03.039 .
• Bowne SJ, Liu Q, Sullivan LS, etal . Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? . Invest. Ophthalmol. Vis. Sci. . 47 . 9 . 3754–65 . 2006 . 16936083 . 10.1167/iovs.06-0207 . 2581456 .
• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129.
• Schatz P, Ponjavic V, Andréasson S . Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene . Ophthalmic Genet. . 26 . 3 . 119–24 . 2005 . 16272056 . 10.1080/13816810500229090 . 33839722 . etal.
• Wada Y, Tada A, Itabashi T, etal . Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa . Am. J. Ophthalmol. . 140 . 1 . 163–5 . 2005 . 16038673 . 10.1016/j.ajo.2005.01.017 .
• Wang J, Yang JW, Zeevi A, etal . IMPDH1 gene polymorphisms and association with acute rejection in renal transplant patients . Clin. Pharmacol. Ther. . 83 . 5 . 711–7 . 2008 . 17851563 . 10.1038/sj.clpt.6100347 . 12718828 .
• Gandra M, Anandula V, Authiappan V, etal . Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India . Mol. Vis. . 14 . 1105–13 . 2008 . 18552984 . 2426732 .
• Bowne SJ, Sullivan LS, Mortimer SE, etal . Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis . Invest. Ophthalmol. Vis. Sci. . 47 . 1 . 34–42 . 2006 . 16384941 . 10.1167/iovs.05-0868 . 2581444 .
• Xu D, Cobb G, Spellicy CJ, etal . Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins . Arch. Biochem. Biophys. . 472 . 2 . 100–4 . 2008 . 18295591 . 10.1016/j.abb.2008.02.012 . 2366119 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928.
• Sanquer S, Maison P, Tomkiewicz C, etal . Expression of inosine monophosphate dehydrogenase type I and type II after mycophenolate mofetil treatment: a 2-year follow-up in kidney transplantation . Clin. Pharmacol. Ther. . 83 . 2 . 328–35 . 2008 . 17713475 . 10.1038/sj.clpt.6100300 . 44919245 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Kozma P, Hughbanks-Wheaton DK, Locke KG, etal . Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene . Am. J. Ophthalmol. . 140 . 5 . 858–867 . 2005 . 16214101 . 10.1016/j.ajo.2005.05.027 . 2771559 .
• Wada Y, Sandberg MA, McGee TL, etal . Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn . Invest. Ophthalmol. Vis. Sci. . 46 . 5 . 1735–41 . 2005 . 15851576 . 10.1167/iovs.04-1197 .
• Jin P, Fu GK, Wilson AD, etal . PCR isolation and cloning of novel splice variant mRNAs from known drug target genes . Genomics . 83 . 4 . 566–71 . 2004 . 15028279 . 10.1016/j.ygeno.2003.09.023 .
• Roberts RL, Gearry RB, Barclay ML, Kennedy MA . IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance . Pharmacogenomics J. . 7 . 5 . 312–7 . 2007 . 17001353 . 10.1038/sj.tpj.6500421 . 11257472 .
• Kudo M, Saito Y, Sasaki T, etal . Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals . Drug Metab. Pharmacokinet. . 24 . 6 . 557–64 . 2009 . 20045992 . 10.2133/dmpk.24.557.

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview

Notes and References

1. Web site: Entrez Gene: IMP (inosine monophosphate) dehydrogenase 1.
2. Natsumeda Y, Ohno S, Kawasaki H, Konno Y, Weber G, Suzuki K . Two distinct cDNAs for human IMP dehydrogenase . J. Biol. Chem. . 265 . 9 . 5292–5 . March 1990 . 10.1016/S0021-9258(19)34120-1 . 1969416 . free .
3. Kennan A, Aherne A, Palfi A, Humphries M, McKee A, Stitt A, Simpson DA, Demtroder K, Orntoft T, Ayuso C, Kenna PF, Farrar GJ, Humphries P . Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice . Hum. Mol. Genet. . 11 . 5 . 547–57 . March 2002 . 11875049 . 10.1093/hmg/11.5.547.
4. Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP . Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa . Hum. Mol. Genet. . 11 . 5 . 559–68 . March 2002 . 11875050 . 2585828 . 10.1093/hmg/11.5.559.