Mapping mRNA Expression of Glaucoma Genes in the Healthy Mouse Eye

References

• Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90(3):262–67. doi:10.1136/bjo.2005.081224.
   PubMed Web of Science ®Google Scholar
• Tham YC, Li X, Wong TY, Quigley HA, Aung T, Cheng CY. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology. 2014;121(11):2081–90. doi:10.1016/j.ophtha.2014.05.013.
   PubMed Web of Science ®Google Scholar
• Medeiros FA, Weinreb RN. Medical backgrounders: glaucoma. Drugs Today (Barc). 2002;38:563–70.
   PubMed Web of Science ®Google Scholar
• Weinreb RN, Aung T, Medeiros FA. The pathophysiology and treatment of glaucoma: a review. JAMA. 2014;311(18):1901–11. doi:10.1001/jama.2014.3192.
   PubMed Web of Science ®Google Scholar
• Gupta N, Weinreb RN. New definitions of glaucoma. Curr Opin Ophthalmol. 1997;8:38–41.
   PubMedGoogle Scholar
• AGIS. The Advanced Glaucoma Intervention Study (AGIS): 7. The relationship between control of intraocular pressure and visual field deterioration. The AGIS investigators. Am J Ophthalmol. 2000;130(4):429–40.
   PubMed Web of Science ®Google Scholar
• Gordon MO, Beiser JA, Brandt JD, Heuer DK, Higginbotham EJ, Johnson CA, Keltner JL, Miller JP, Parrish RK 2nd, Wilson MR, et al. The ocular hypertension treatment study: baseline factors that predict the onset of primary open-angle glaucoma. Arch Ophthalmol. 2002;120(6):714–20. discussion 829-30.
   PubMedGoogle Scholar
• Leske MC, Connell AM, Wu SY, Nemesure B, Li X, Schachat A, Hennis A. Incidence of open-angle glaucoma: the barbados eye studies. The barbados eye studies group. Arch Ophthalmol. 2001;119:89–95.
   PubMed Web of Science ®Google Scholar
• Gong G, Kosoko-Lasaki S, Haynatzki G, Lynch HT, Lynch JA, Wilson MR. Inherited, familial and sporadic primary open-angle glaucoma. J Natl Med Assoc. 2007;99:559–63.
   PubMed Web of Science ®Google Scholar
• Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275(5300):668–70.
   PubMed Web of Science ®Google Scholar
• Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002;295(5557):1077–79. doi:10.1126/science.1066901.
   PubMed Web of Science ®Google Scholar
• Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E, Crick RP, Child A, et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet. 2005;14(6):725–33. doi:10.1093/hmg/ddi068.
   PubMed Web of Science ®Google Scholar
• Medeiros FA, Sample PA, Zangwill LM, Bowd C, Aihara M, Weinreb RN. Corneal thickness as a risk factor for visual field loss in patients with preperimetric glaucomatous optic neuropathy. Am J Ophthalmol. 2003;136:805–13.
   PubMed Web of Science ®Google Scholar
• Janssen SF, Gorgels TG, Ramdas WD, Klaver CC, van Duijn CM, Jansonius NM, Bergen AA. The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology. Prog Retin Eye Res. 2013;37:31–67. doi:10.1016/j.preteyeres.2013.09.001.
   PubMed Web of Science ®Google Scholar
• Kumar S, Malik MA, Goswami S, Sihota R, Kaur J. Candidate genes involved in the susceptibility of primary open angle glaucoma. Gene. 2016;577(2):119–31. doi:10.1016/j.gene.2015.11.032.
   PubMed Web of Science ®Google Scholar
• Iglesias AI, Springelkamp H, Ramdas WD, Klaver CC, Willemsen R, van Duijn CM. Genes, pathways, and animal models in primary open-angle glaucoma. Eye (Lond). 2015;29(10):1285–98. doi:10.1038/eye.2015.160.
   PubMed Web of Science ®Google Scholar
• Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Hohn R, Khor CC, Cooke Bailey JN, Luo X, Ramdas WD, Vithana E, et al. Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology. Genet Epidemiol. 2015;39(3):207–16. doi:10.1002/gepi.21886.
   PubMed Web of Science ®Google Scholar
• Springelkamp H, Iglesias AI, Mishra A, Hohn R, Wojciechowski R, Khawaja AP, Nag A, Wang YX, Wang JJ, Cuellar-Partida G, et al. New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. Hum Mol Genet. 2017. doi:10.1093/hmg/ddw399.
   PubMed Web of Science ®Google Scholar
• Zhou T, Souzeau E, Sharma S, Landers J, Mills R, Goldberg I, Healey PR, Graham S, Hewitt AW, Mackey DA, et al. Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma. PLoS One. 2017;12(3):e0172427. doi:10.1371/journal.pone.0172427.
   PubMed Web of Science ®Google Scholar
• Danford ID, Verkuil LD, Choi DJ, Collins DW, Gudiseva HV, Uyhazi KE, Lau MK, Kanu LN, Grant GR, Chavali VRM, et al. Characterizing the “POAGome”: a bioinformatics-driven approach to primary open-angle glaucoma. Prog Retin Eye Res. 2017;58:89–114. doi:10.1016/j.preteyeres.2017.02.001.
   PubMed Web of Science ®Google Scholar
• Li M, Jia C, Kazmierkiewicz KL, Bowman AS, Tian L, Liu Y, Gupta NA, Gudiseva HV, Yee SS, Kim M, et al. Comprehensive analysis of gene expression in human retina and supporting tissues. Hum Mol Genet. 2014;23(15):4001–14. doi:10.1093/hmg/ddu114.
   PubMed Web of Science ®Google Scholar
• Cassidy A, Jones J. Developments in in situ hybridisation. Methods. 2014;70(1):39–45. doi:10.1016/j.ymeth.2014.04.006.
   PubMed Web of Science ®Google Scholar
• Wagner AH, Anand VN, Wang WH, Chatterton JE, Sun D, Shepard AR, Jacobson N, Pang IH, Deluca AP, Casavant TL, et al. Exon-level expression profiling of ocular tissues. Exp Eye Res. 2013;111:105–11. doi:10.1016/j.exer.2013.03.004.
   PubMed Web of Science ®Google Scholar
• Kroeber M, Ohlmann A, Russell P, Tamm ER. Transgenic studies on the role of optineurin in the mouse eye. Exp Eye Res. 2006;82(6):1075–85. doi:10.1016/j.exer.2005.11.004.
   PubMed Web of Science ®Google Scholar
• Rezaie T, Sarfarazi M. Molecular cloning, genomic structure, and protein characterization of mouse optineurin. Genomics. 2005;85(1):131–38. doi:10.1016/j.ygeno.2004.10.011.
   PubMed Web of Science ®Google Scholar
• Springelkamp H, Hohn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JN, Gibson J, Thorleifsson G, Janssen SF, et al. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014;5:4883. doi:10.1038/ncomms5972.
   PubMed Web of Science ®Google Scholar
• Kaeslin MA, Killer HE, Fuhrer CA, Zeleny N, Huber AR, Neutzner A. Changes to the aqueous humor proteome during glaucoma. PLoS One. 2016;11(10):e0165314. doi:10.1371/journal.pone.0165314.
   PubMed Web of Science ®Google Scholar
• Chowdhury UR, Madden BJ, Charlesworth MC, Fautsch MP. Proteome analysis of human aqueous humor. Invest Ophthalmol Vis Sci. 2010;51(10):4921–31. doi:10.1167/iovs.10-5531.
   PubMed Web of Science ®Google Scholar
• Murthy KR, Rajagopalan P, Pinto SM, Advani J, Murthy PR, Goel R, Subbannayya Y, Balakrishnan L, Dash M, Anil AK, et al. Proteomics of human aqueous humor. OMICS. 2015;19(5):283–93. doi:10.1089/omi.2015.0029.
   PubMed Web of Science ®Google Scholar
• Ji Y, Rong X, Ye H, Zhang K, Lu Y. Proteomic analysis of aqueous humor proteins associated with cataract development. Clin Biochem. 2015;48(18):1304–09. doi:10.1016/j.clinbiochem.2015.08.006.
   PubMed Web of Science ®Google Scholar
• Tanaka Y, Tsuda S, Kunikata H, Sato J, Kokubun T, Yasuda M, Nishiguchi KM, Inada T, Nakazawa T. Profiles of extracellular miRNAs in the aqueous humor of glaucoma patients assessed with a microarray system. Sci Rep. 2014;4:5089. doi:10.1038/srep05089.
   PubMed Web of Science ®Google Scholar
• Dreixler JC, Bratton A, Du E, Shaikh AR, Savoie B, Alexander M, Marcet MM, Roth S. Mitogen-activated protein kinase phosphatase-1 (MKP-1) in retinal ischemic preconditioning. Exp Eye Res. 2011;93(4):340–49. doi:10.1016/j.exer.2010.10.011.
   PubMed Web of Science ®Google Scholar
• de Sousa Abreu R, Penalva LO, Marcotte EM, Vogel C. Global signatures of protein and mRNA expression levels. Mol Biosyst. 2009;5(12):1512–26. doi:10.1039/b908315d.
   PubMed Web of Science ®Google Scholar
• Urbanek MO, Nawrocka AU, Krzyzosiak WJ. Small RNA detection by in situ hybridization methods. Int J Mol Sci. 2015;16(6):13259–86. doi:10.3390/ijms160613259.
   PubMed Web of Science ®Google Scholar
• Levsky JM, Singer RH. Fluorescence in situ hybridization: past, present and future. J Cell Sci. 2003;116(Pt 14):2833–38. doi:10.1242/jcs.00633.
   PubMed Web of Science ®Google Scholar
• Qian X, Lloyd RV. Recent developments in signal amplification methods for in situ hybridization. Diagn Mol Pathol. 2003;12:1–13.
   PubMed Web of Science ®Google Scholar
• Minegishi Y, Nakayama M, Iejima D, Kawase K, Iwata T. Significance of optineurin mutations in glaucoma and other diseases. Prog Retin Eye Res. 2016;55:149–81. doi:10.1016/j.preteyeres.2016.08.002.
   PubMed Web of Science ®Google Scholar
• Tezel G. TNF-alpha signaling in glaucomatous neurodegeneration. Prog Brain Res. 2008;173:409–21. doi:10.1016/S0079-6123(08)01128-X.
   PubMed Web of Science ®Google Scholar
• Xin X, Gao L, Wu T, Sun F. Roles of tumor necrosis factor alpha gene polymorphisms, tumor necrosis factor alpha level in aqueous humor, and the risks of open angle glaucoma: a meta-analysis. Mol Vis. 2013;19:526–35.
   PubMed Web of Science ®Google Scholar
• Agarwal R, Agarwal P. Glaucomatous neurodegeneration: an eye on tumor necrosis factor-alpha. Indian J Ophthalmol. 2012;60(4):255–61. doi:10.4103/0301-4738.98700.
   PubMed Web of Science ®Google Scholar
• Roh M, Zhang Y, Murakami Y, Thanos A, Lee SC, Vavvas DG, Benowitz LI, Miller JW. Etanercept, a widely used inhibitor of tumor necrosis factor-alpha (TNF-alpha), prevents retinal ganglion cell loss in a rat model of glaucoma. PLoS One. 2012;7(7):e40065. doi:10.1371/journal.pone.0040065.
   PubMed Web of Science ®Google Scholar
• Bruunsgaard H, Pedersen AN, Schroll M, Skinhoj P, Pedersen BK. TNF-alpha, leptin, and lymphocyte function in human aging. Life Sci. 2000;67:2721–31.
   PubMed Web of Science ®Google Scholar
• Tezel G, Li LY, Patil RV, Wax MB. TNF-alpha and TNF-alpha receptor-1 in the retina of normal and glaucomatous eyes. Invest Ophthalmol Vis Sci. 2001;42:1787–94.
   PubMed Web of Science ®Google Scholar
• Luo L, Li DQ, Doshi A, Farley W, Corrales RM, Pflugfelder SC. Experimental dry eye stimulates production of inflammatory cytokines and MMP-9 and activates MAPK signaling pathways on the ocular surface. Invest Ophthalmol Vis Sci. 2004;45(12):4293–301. doi:10.1167/iovs.03-1145.
   PubMed Web of Science ®Google Scholar
• Malvitte L, Montange T, Vejux A, Baudouin C, Bron AM, Creuzot-Garcher C, Lizard G. Measurement of inflammatory cytokines by multicytokine assay in tears of patients with glaucoma topically treated with chronic drugs. Br J Ophthalmol. 2007;91(1):29–32. doi:10.1136/bjo.2006.101485.
   PubMed Web of Science ®Google Scholar
• Gupta D, Wen JC, Huebner JL, Stinnett S, Kraus VB, Tseng HC, Walsh M. Cytokine biomarkers in tear film for primary open-angle glaucoma. Clin Ophthalmol. 2017;11:411–16. doi:10.2147/OPTH.S125364.
   PubMed Web of Science ®Google Scholar
• Fuchshofer R, Tamm ER. The role of TGF-beta in the pathogenesis of primary open-angle glaucoma. Cell Tissue Res. 2012;347(1):279–90. doi:10.1007/s00441-011-1274-7.
   PubMed Web of Science ®Google Scholar
• Pfeiffer N, Voykov B, Renieri G, Bell K, Richter P, Weigel M, Thieme H, Wilhelm B, Lorenz K, Feindor M, et al. First-in-human phase I study of ISTH0036, an antisense oligonucleotide selectively targeting transforming growth factor beta 2 (TGF-beta2), in subjects with open-angle glaucoma undergoing glaucoma filtration surgery. PLoS One. 2017;12(11):e0188899. doi:10.1371/journal.pone.0188899.
   PubMed Web of Science ®Google Scholar
• Stahnke T, Kowtharapu BS, Stachs O, Schmitz KP, Wurm J, Wree A, Guthoff RF, Hovakimyan M. Suppression of TGF-beta pathway by pirfenidone decreases extracellular matrix deposition in ocular fibroblasts in vitro. PLoS One. 2017;12(2):e0172592. doi:10.1371/journal.pone.0172592.
   PubMed Web of Science ®Google Scholar
• Maeda M, Kojima S, Sugiyama T, Jin D, Takai S, Oku H, Kohmoto R, Ueki M, Ikeda T. Effects of gelatin hydrogel containing anti-transforming growth factor-beta antibody in a canine filtration surgery model. Int J Mol Sci. 2017;18:5. doi:10.3390/ijms18050985.
   PubMed Web of Science ®Google Scholar
• Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, Mani B, Chen LJ, Kee C, Garway-Heath DF, et al. A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015;24(13):3880–92. doi:10.1093/hmg/ddv128.
   PubMed Web of Science ®Google Scholar
• Joyce NC, Zieske JD. Transforming growth factor-beta receptor expression in human cornea. Invest Ophthalmol Vis Sci. 1997;38:1922–28.
   PubMed Web of Science ®Google Scholar
• Tripathi RC, Li J, Chan WF, Tripathi BJ. Aqueous humor in glaucomatous eyes contains an increased level of TGF-beta 2. Exp Eye Res. 1994;59:723–27.
   PubMed Web of Science ®Google Scholar
• Carnes MU, Allingham RR, Ashley-Koch A, Hauser MA. Transcriptome analysis of adult and fetal trabecular meshwork, cornea, and ciliary body tissues by RNA sequencing. Exp Eye Res. 2018;167:91–9.
   PubMed Web of Science ®Google Scholar
• Sathiyanathan P, Tay CY, Stanton LW. Transcriptome analysis for the identification of cellular markers related to trabecular meshwork differentiation. BMC Genomics. 2017;18(1):383. doi:10.1186/s12864-016-3396-5.
   PubMed Web of Science ®Google Scholar
• Wang Z, Reinach PS, Zhang F, Vellonen KS, Urtti A, Turner H, Wolosin JM. DUSP5 and DUSP6 modulate corneal epithelial cell proliferation. Mol Vis. 2010;16:1696–704.
   PubMed Web of Science ®Google Scholar