IMP Dehydrogenase-Linked Retinitis Pigmentosa

REFERENCES

• Rivolta , C. , Sharon , D. , DeAngelis , M. M. and Dryja , T. P. 2002 . Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns . Hum. Mol. Genet. , 11 : 1219 – 1227 .
   PubMed Web of Science ®Google Scholar
• Kennan , A. , Aherne , A. , Palfi , A. , Humphries , M. McKee , A. 2002 . 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 : 547 – 557 .
   PubMed Web of Science ®Google Scholar
• Bowne , S. J. , Sullivan , L. S. , Blanton , S. H. , Cepko , C. L. , Blackshaw , S. , Birch , D. G. , Hughbanks-Wheaton , D. , Heckenlively , J. R. and Daiger , S. P. 2002 . Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa . Hum. Mol. Genet. , 11 : 559 – 568 .
   PubMed Web of Science ®Google Scholar
• Wada , Y. , Sandberg , M. A. , McGee , T. L. , Stillberger , M. A. , Berson , E. L. and Dryja , T. P. 2005 . 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 : 1735 – 1741 .
   PubMed Web of Science ®Google Scholar
• Hedstrom , L. 1999 . IMP dehydrogenase: mechanism of action and inhibition . Curr. Med. Chem. , 6 : 545 – 560 .
   PubMed Web of Science ®Google Scholar
• Gu , J. J. , Tolin , A. K. , Jain , J. , Huang , H. , Santiago , L. and Mitchell , B. S. 2003 . Targeted disruption of the inosine 5′-monophosphate dehydrogenase type I gene in mice . Mol. Cell. Biol. , 23 : 6702 – 6712 .
   PubMed Web of Science ®Google Scholar
• Jain , J. , Almquist , S. J. , Ford , P. J. , Shlyakhter , D. Wang , Y. 2004 . Regulation of inosine monophosphate dehydrogenase type I and type II isoforms in human lymphocytes . Biochem. Pharmacol. , 67 : 767 – 776 .
   PubMed Web of Science ®Google Scholar
• Bowne , S. J. , Liu , Q. , Sullivan , L. S. , Zhu , J. , Spellicy , C. J. , Rickman , C. B. , Pierce , E. A. and Daiger , S. P. 2006 . Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? . Invest. Ophthalmol. Vis. Sci. , 47 : 3754 – 3765 .
   PubMed Web of Science ®Google Scholar
• Grover , S. , Fishman , G. A. and Stone , E. M. 2004 . A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa . Ophthalmology , 111 : 1910 – 1916 .
   PubMed Web of Science ®Google Scholar
• Bowne , S. J. , Sullivan , L. S. , Mortimer , S. E. , Hedstrom , L. Zhu , J. 2004 . Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis . Invest. Ophthalmol. Vis. Sci. , 47 : 34 – 42 .
   Web of Science ®Google Scholar
• Aherne , A. , Kennan , A. , Kenna , P. F. , McNally , N. , Lloyd , D. G. , Alberts , I. L. , Kiang , A. S. , Humphries , M. M. , Ayuso , C. , Engel , P. C. , Gu , J. J. , Mitchell , B. S. , Farrar , G. J. and Humphries , P. 2004 . On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa . Hum. Mol. Genet. , 13 : 641 – 650 .
   PubMed Web of Science ®Google Scholar
• Ishikawa , H. 1999 . Mizoribine and mycophenolate mofetil . Curr. Med. Chem. , 6 : 575 – 597 .
   PubMed Web of Science ®Google Scholar
• Colby , T. D. , Vanderveen , K. , Strickler , M. D. , Markham , G. D. and Goldstein , B. M. 1999 . Crystal structure of human type II inosine monophosphate dehydrogenase: implications for ligand binding and drug design . Proc. Natl. Acad. Sci., USA , 96 : 3531 – 3536 .
   PubMed Web of Science ®Google Scholar
• Nimmesgern , E. , Black , J. , Futer , O. , Fulghum , J. R. , Chambers , S. P. , Brummel , C. L. , Raybuck , S. A. and Sintchak , M. D. 1999 . Biochemical analysis of the modular enzyme inosine monophosphate dehydrogenase . Prot. Expres. Purif. , 17 : 282 – 289 .
   PubMed Web of Science ®Google Scholar
• Gan , L. , Petsko , G. A. and Hedstrom , L. 2002 . Crystal structure of a ternary complex of Tritrichomonas foetus inosine 5′-monophosphate dehydrogenase: NAD+ orients the active site loop for catalysis . Biochemistry , 41 : 13309 – 13317 .
   PubMed Web of Science ®Google Scholar
• Mortimer , S. E. and Hedstrom , L. 2005 . Autosomal dominant retinitis pigmentosa mutations in inosine 5′-monophosphate dehydrogenase type I disrupt nucleic acid binding . Biochem. J. , 390 : 41 – 47 .
   PubMed Web of Science ®Google Scholar
• Kemp , B. E. 2005 . Bateman domains and adenosine derivatives form a binding contract . J. Clin. Invest. , 113 : 182 – 184 .
   Web of Science ®Google Scholar
• Ignoul , S. and Eggermont , J. 2005 . CBS domains: structure, function, and pathology in human proteins . Am. J. Physiol. Cell Physiol. , 289 : C1369 – C1378 .
   PubMed Web of Science ®Google Scholar
• Scott , J. W. , Hawley , S. A. , Green , K. A. , Anis , M. , Stewart , G. , Scullion , G. A. , Norman , D. G. and Hardie , D. G. 2004 . CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations . J. Clin. Invest. , 113 : 274 – 284 .
   PubMed Web of Science ®Google Scholar
• Carr , S. F. , Papp , E. , Wu , J. C. and Natsumeda , Y. 1993 . Characterization of human type I and type II IMP dehydrogenases . J. Biol. Chem. , 268 : 27286 – 27290 .
   PubMed Web of Science ®Google Scholar
• Holmes , E. , Pehlke , D. and Kelley , W. 1974 . Human IMP dehydrogenase. Kinetics and regulatory properties . Biochim. Biophys. Acta , 364 : 209 – 217 .
   PubMedGoogle Scholar
• McLean , J. E. , Hamaguchi , N. , Belenky , P. , Mortimer , S. E. , Stanton , M. and Hedstrom , L. 2004 . Inosine 5′-monophosphate dehydrogenase binds nucleic acids in vitro and in vivo . Biochem. J. , 379 : 243 – 251 .
   PubMed Web of Science ®Google Scholar
• Bartel , D. P. 2004 . MicroRNAs: genomics, biogenesis, mechanism, and function . Cell , 116 : 281 – 297 .
   PubMed Web of Science ®Google Scholar
• Keene , J. D. and Tenenbaum , S. A. 2004 . Eukaryotic mRNPs may represent posttranscriptional operons . Mol. Cell , 9 : 1161 – 1167 .
   Web of Science ®Google Scholar
• Tenenbaum , S. A. , Carson , C. C. , Lager , P. J. and Keene , J. D. 2000 . Identifying mRNA subsets in messenger ribonucleoprotein complexes by using cDNA arrays . Proc. Natl. Acad. Sci. USA , 97 : 14085 – 14090 .
   PubMed Web of Science ®Google Scholar
• Wang , Y. , Liu , C. L. , Storey , J. D. , Tibshirani , R. J. , Herschlag , D. and Brown , P. O. 2002 . Precision and functional specificity in mRNA decay . Proc. Natl. Acad. Sci. USA , 99 : 5860 – 5865 .
   PubMed Web of Science ®Google Scholar
• Eystathioy , T. , Chan , E. K. , Tenenbaum , S. A. , Keene , J. D. , Griffith , K. and Fritzler , M. J. 2002 . A phosphorylated cytoplasmic autoantigen, GW182, associates with a unique population of human mRNAs within novel cytoplasmic speckles . Mol. Biol. Cell , 13 : 1338 – 1351 .
   PubMed Web of Science ®Google Scholar
• Ho , Y. , Gruhler , A. , Hellbut , A. , Bader , G. D. , Moore , L. , Adams , S.-L. , Millar , A. , Taylor , P. , Bennett , K. , Boutliller , K. , Yang , L. , Wolting , C. , Donaldson , I. , Scchandorff , S. , Shewnarane , J. , Vo , M. , Taggart , J. , Goudreault , M. , Muskat , B. , Alfarano , C. , Dewar , D. , Lin , Z. , Michalickova , K. , Willems , A. R. , Sasl , H. , Nielsen , P. A. , Rasmussen , K. J. , Andersen , J. R. , Johansen , L. E. , Hansens , L. K. , Jespersen , H. , Podtelejnikov , A. , Neilsen , E. , Crawford , J. , Poulsens , V. , Sorensen , B. D. , Matthiesen , J. , Hendrickson , R. C. , Gleeson , F. , Pawson , T. , Moran , M. F. , Durocher , D. , Mann , M. , Hogue , C. W. V. , Figeys , D. and Tyers , M. 2002 . Systematic identification of protein complexes in Sacccharomyces cerevisiae by mass spectrometry . Nature , 415 : 180 – 183 .
   PubMed Web of Science ®Google Scholar
• Shepard , K. A. , Gerber , A. P. , Jambhekar , A. , Takizawa , P. A. Brown , P. O. 2003 . Widespread cytoplasmic mRNA transport in yeast: identification of 22 bud-localized transcripts using DNA microarray analysis . Proc. Natl. Acad. Sci. USA , 100 : 11429 – 11434 .
   PubMed Web of Science ®Google Scholar
• Gebauer , F. and Hentze , M. W. 2004 . Molecular mechanisms of translational control . Nat. Rev. Mol. Cell Biol. , 5 : 827 – 835 .
   PubMed Web of Science ®Google Scholar
• Holcik , M. and Sonenberg , N. 2005 . Translational control in stress and apoptosis . Nat. Rev. Mol. Cell Biol. , 6 : 318 – 327 .
   PubMed Web of Science ®Google Scholar
• Sung , C. H. and Tai , A. W. 2000 . Rhodopsin trafficking and its role in retinal dystrophies . Int. Rev. Cytol. , 195 : 215 – 267 .
   PubMedGoogle Scholar
• Gunawardena , S. and Goldstein , L. S. 2004 . Cargo-carrying motor vehicles on the neuronal highway: transport pathways and neurodegenerative disease . J. Neurobiol. , 58 : 258 – 271 .
   PubMedGoogle Scholar
• St. Johnston , D. 2005 . Moving messages: the intracellular localization of mRNAs . Nat. Rev. Mol. Cell. Biol. , 6 : 363 – 375 .
   PubMed Web of Science ®Google Scholar
• Bashirullah , A. , Cooperstock , R. L. and Lipshitz , H. D. 1998 . RNA localization in development . Annu. Rev. Biochem. , 67 : 335 – 394 .
   PubMed Web of Science ®Google Scholar
• Tekotte , H. and Davis , I. 2002 . Intracellular mRNA localization: motors move messages . Trends Genet. , 18 : 636 – 642 .
   PubMed Web of Science ®Google Scholar
• Lipshitz , H. D. and Smibert , C. A. 2000 . Mechanisms of RNA localization and translational regulation . Curr. Opin. Genet. Dev. , 10 : 476 – 488 .
   PubMed Web of Science ®Google Scholar
• Liu , Q. , Cukras , C. , Bowne , S. J. , Zhu , J. , Sullivan , L. S. , Daiger , S. P. and Pierce , E. A. 2005 . A Potential Interaction Between the RP1 and IMPDH1 Proteins . ARVO , (Abstr. 1710)
   Google Scholar
• Liu , Q. , Zhou , J. , Daiger , S. P. , Farber , D. B. , Heckenlively , J. R. , Smith , J. E. , Sullivan , L. S. , Zuo , J. , Milam , A. H. and Pierce , E. A. 2002 . Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors . Invest. Ophthalmol. Vis. Sci. , 43 : 22 – 32 .
   PubMed Web of Science ®Google Scholar
• Gao , J. , Cheon , K. , Nusinowitz , S. , Liu , Q. , Bei , D. , Atkins , K. , Azimi , A. , Daiger , S. P. , Farber , D. B. , Heckenlively , J. R. , Pierce , E. A. , Sullivan , L. S. and Zuo , J. 2002 . Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene . Proc. Natl. Acad. Sci. USA , 99 : 5698 – 5703 .
   PubMed Web of Science ®Google Scholar
• Wilusz , C. J. and Wilusz , J. 2004 . Bringing the role of mRNA decay in the control of gene expression into focus . Trends Genet. , 20 : 491 – 497 .
   PubMed Web of Science ®Google Scholar
• Meyer , S. , Temme , C. and Wahle , E. 2004 . Messenger RNA turnover in eukaryotes: pathways and enzymes . Crit. Rev. Biochem. Mol. Biol. , 39 : 197 – 216 .
   PubMed Web of Science ®Google Scholar
• Tan , E. , Wang , Q. , Quiambao , A. B. , Xu , X. , Qtaishat , N. M. , Peachey , N. S. , Lem , J. , Fliesler , S. J. , Pepperberg , D. R. , Naash , M. I. and Al-Ubaidi , M. R. 2001 . The relationship between opsin overexpression and photoreceptor degeneration . Invest. Ophthalmol. Vis. Sci. , 42 : 589 – 600 .
   PubMed Web of Science ®Google Scholar
• Olsson , J. E. , Gordon , J. W. , Pawlyk , B. S. , Roof , D. , Hayes , A. , Molday , R. S. , Mukai , S. , Cowley , G. S. , Berson , E. L. and Dryja , T. P. 1992 . Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa . Neuron , 9 : 815 – 830 .
   PubMed Web of Science ®Google Scholar
• Nour , M. , Ding , X. Q. , Stricker , H. , Fliesler , S. J. and Naash , M. I. 2004 . Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpression . Invest. Ophthalmol. Vis. Sci. , 45 : 2514 – 2521 .
   PubMed Web of Science ®Google Scholar
• Cheng , T. , Peachey , N. S. , Li , S. , Goto , Y. , Cao , Y. and Naash , M. I. 1997 . The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors . J. Neurosci. , 17 : 8118 – 8128 .
   PubMed Web of Science ®Google Scholar
• Ingelfinger , D. , Arndt-Jovin , D. J. , Luhrmann , R. and Achsel , T. 2002 . The human LSm1-7 proteins colocalize with the mRNA-degrading enzymes Dcp1/2 and Xrnl in distinct cytoplasmic foci . RNA , 8 : 1489 – 1501 .
   PubMed Web of Science ®Google Scholar
• van Dijk , E. , Cougot , N. , Meyer , S. , Babajko , S. , Wahle , E. and Seraphin , B. 2002 . Human Dcp2: a catalytically active mRNA decapping enzyme located in specific cytoplasmic structures . EMBO J. , 21 : 6915 – 6924 .
   PubMed Web of Science ®Google Scholar
• Sheth , U. and Parker , R. 2003 . Decapping and decay of messenger RNA occur in cytoplasmic processing bodies . Science , 300 : 805 – 808 .
   PubMed Web of Science ®Google Scholar
• Cougot , N. , Babajko , S. and Seraphin , B. 2004 . Cytoplasmic foci are sites of mRNA decay in human cells . J. Cell Biol. , 165 : 31 – 40 .
   PubMed Web of Science ®Google Scholar
• Bashirullah , A. , Cooperstock , R. L. and Lipshitz , H. D. 2001 . (2001) Spatial and temporal control of RNA stability . Proc. Natl. Acad. Sci. USA , 98 : 7025 – 7028 .
   PubMed Web of Science ®Google Scholar
• Zhang , R.-G. , Evans , G. , Rotella , F. J. , Westbrook , E. M. , Beno , D. , Huberman , E. , Joachimiak , A. and Collart , F. R. 1999 . Characteristics and crystal structure of bacterial inosine-5′-monophosphate dehydrogenase . Biochemistry , 38 : 4691 – 4700 .
   PubMed Web of Science ®Google Scholar
• Meng , E. C. and Ferrin , T. E. 2004 . UCSF Chimera- a visualization system for exploratory research and analysis . J. Comp. Chem. , 25 : 1605 – 1612 .
   PubMed Web of Science ®Google Scholar