CYP1B1, a developmental gene with a potential role in glaucoma therapy

References

• Acharya MM, Mookherjee S, Bhattacharjee A, Bandyopadhyay SD, Bhaduri G, Sen A, Ray K (2006). Primary role of CYP1B1 in Indian juvenile-onset POAG patents. Mol Vis 12:399–404.
   PubMed Web of Science ®Google Scholar
• Allingham RR, Liu Y, Rhee DJ (2009). The genetics of primary open-angle glaucoma: a review. Exp Eye Res 88(4):837-44.
   PubMedGoogle Scholar
• Anderson DR (1981). The development of the trabecular meshwork and its abnormality in primary infantile glaucoma. Trans Am Ophthalmol Soc 79:458–85.
   PubMedGoogle Scholar
• Aoki H, Hara A, Niwa M, Motohashi T, Suzuki T, Kunisada T (2007). An in vitro mouse model for retinal ganglion cell replacement therapy using eye-like structures differentiated from ES cells. Exp Eye Res 84:868–75.
   PubMedGoogle Scholar
• Barraza RA, Rasmussen CA, Loewen N, Cameron JD, Gabelt BT, Teo W-L, Kaufman PL, Poeschla EM (2009). Prolonged transgene expression with lentiviral vectors in the aqueous humor outflow pathway of nonhuman primates. Hum Gene Ther 20:191–200.
   PubMed Web of Science ®Google Scholar
• Baulmann DC, Ohlmann A, Flugel-Koch C, Goswami S, Cvekl A, Tamm ER (2002). Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities. Mech Develop 118:3–17.
   PubMed Web of Science ®Google Scholar
• Bayat B, Yazdani S, Alavi A, Chiani M, Chitsazian F, Tusi BK, Suri F, Narooie-Nejhad M, Sanati MH, Elahi E. (2008). Contributions of MYOC and CYP1B1 mutations to JOAG. Mol Vis 14:508–17.
   PubMed Web of Science ®Google Scholar
• Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR (2000). Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 9:367–74.
   PubMed Web of Science ®Google Scholar
• Buters JT, Sakai S, Richter T, Pineau T, Alexander DL, Savas U, Doehmer J, Ward JM, Jefcoate CR, Gonzalez FJ (1999). Cytochrome P450 CYP1B1 determines susceptibility to 7,12-dimethylbenz[a]anthracene-induced lymphomas. Proc Natl Acad Sci USA 96:1977–82.
   PubMed Web of Science ®Google Scholar
• Byrne JA (2008). Generation of isogenic pluripotent stem cells. Hum Mol Genet 17:R37–41.
   PubMedGoogle Scholar
• Chakrabarti S, Devi KR, Komatireddy S, Kaur K, Parikh RS, Mandal AK, Chandrasekhar G, Thomas R. (2007). Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci 48(12):5439–44.
   PubMedGoogle Scholar
• Campos-Mollo E, Lopez-Garrido MP, Blanco-Marchite C, Garcia-Feijoo J, Peralta J, Belmonte-Martinez J, Ayuso C, Escribano J (2009). CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis 15:417–31.
   PubMed Web of Science ®Google Scholar
• Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, Kautza M, Mardin C, Rautenstrauss B (2006). Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). J Glaucoma 16:499–504.
   Google Scholar
• Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, Reis A, Rautenstrauss B (2008). Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat 29:1147–53.
   PubMed Web of Science ®Google Scholar
• Choudhary D, Jansson I, Rezaul K, Han DK, Sarfarazi M, Schenkman JB (2007). Cyp1b1 protein in the mouse eye during development: an immunohistochemical study. Drug Metab Disposit 35:987–94.
   PubMedGoogle Scholar
• Choudhary D, Jansson I, Sarfarazi M, Schenkman JB (2004a). Xenobiotic-metabolizing cytochromes P450 in ontogeny: evolving perspective. Drug Metab Rev 36:547–66.
   Google Scholar
• Choudhary D, Jansson I, Sarfarazi M, Schenkman JB (2008). Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. Pharmacogenet Genomic 18:665–76.
   PubMed Web of Science ®Google Scholar
• Choudhary D, Jansson I, Schenkman JB, Sarfarazi M, Stoilov I (2003). Comparative expression profiling of 40 mouse cytochrome P450 genes in embryonic and adult tissues. Archiv Biochem Biophys 414:91–100.
   PubMed Web of Science ®Google Scholar
• Choudhary D, Jansson I, Stoilov I, Sarfarazi M, Schenkman JB (2004b). Metabolism of retinoids and arachidonic acid by human and mouse cytochrome P450 1B1. Drug Metab Disposit 32:840–7.
   PubMed Web of Science ®Google Scholar
• Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang JJ, Sumaroka A, Windsor EA, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, Jacobson SG, Hauswirth WW (2008). Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci USA 105:15112–17.
   PubMed Web of Science ®Google Scholar
• Colella P, Cotugno G, Auricchio A (2009). Ocular gene therapy: current progress and future prospects. Trends Mol Med 15:23–31.
   PubMed Web of Science ®Google Scholar
• Cvekl A, Tamm ER (2004). Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases. Bioessays 26:374–86.
   PubMed Web of Science ®Google Scholar
• De Roos K, Sonneveld E, Compaan B, ten Berge D, Durston AJ, Van der Saag PT (1999). Expression of retinoic acid 4-hydroxylase (CYP26) during mouse and Xenopus laevis embryogenesis. Mech Develop 82:205–11.
   PubMed Web of Science ®Google Scholar
• Dickens CJ, Hoskins JHD (1996). Diagnosis and treatment of congenital glaucoma. In: Rich R, Shields BM, Krupin T, eds. The glaucomas. St Louis, MO: Mosby, 739–49.
   Google Scholar
• Dimos JT, Rodolfa KT, Niakan KK, Weisenthal LM, Mitsumoto H, Chung W, Croft GF, Saphier G, Leibel R, Goland R, Wichterle H, Henderson CE, Eggan K (2008). Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 321:1218–21.
   PubMed Web of Science ®Google Scholar
• Doshi M, Marcus C, Bejjani BA, Edward DP (2006). Immuno localization of CYP1B1 in normal, human, foetal and adult eyes. Exp Eye Res 82:24–32.
   PubMed Web of Science ®Google Scholar
• Edward D, Al Rajhi A, Lewis RA, Curry S, Wang Z, Bejjani B. (2004). Molecular basis of Peters anomaly in Saudi Arabia. Ophthalmic Genet 25(4):257–70.
   PubMedGoogle Scholar
• Fujii H, Sato T, Kaneko S, Gotoh O, Fujii-Kuriyama Y, Osawa K, Kato S, Hamada H (1997). Metabolic inactivation of retinoic acid by a novel P450 differentially expressed in developing mouse embryos. EMBO J 16:4163–73.
   PubMed Web of Science ®Google Scholar
• Gill DR, Pringle IA, Hyde SC (2009). Progress and prospects: the design and production of plasmid vectors. Gene Ther 16:165–71.
   PubMed Web of Science ®Google Scholar
• Giordano A, Galderisi U, Marino IR (2007). From the laboratory bench to the patient’s bedside: an update on clinical trials with mesenchymal stem cells. J Cell Physiol 211:27–35.
   PubMed Web of Science ®Google Scholar
• Gould DB, Smith RS, John SW (2004). Anterior segment development relevant to glaucoma. Int J Develop Biol 48:1015–29.
   PubMed Web of Science ®Google Scholar
• Harvey AR, Hu Y, Leaver SG, Mellough CB, Park K, Verhaagen J, Plant GW, Cui Q (2006). Gene therapy and transplantation in CNS repair: the visual system. Progr Retinal Eye Res 25:449–89.
   PubMed Web of Science ®Google Scholar
• Hollemann T, Chen Y, Grunz H, Pieler T (1998). Regionalized metabolic activity establishes boundaries of retinoic acid signalling. EMBO J 17:7361–72.
   PubMed Web of Science ®Google Scholar
• Jansson I, Stoilov I, Sarfarazi M, Schenkman JB (2001). Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics 11:793–801.
   PubMedGoogle Scholar
• Johnson TV, Bull ND, Martin KR (2008). Transplantation prospects for the inner retina. Eye doi:10.1038/eye.2008.376.
   Google Scholar
• Juchau MR, Lee QP, Fantel AG (1992). Xenobiotic biotransformation/bioactivation in organogenesis-stage conceptual tissues: implications for embryotoxicity and teratogenesis. Drug Metabol Rev 24:195–238.
   PubMed Web of Science ®Google Scholar
• Kelley MJ, Rose AY, Keller KE, Hessle H, Samples JR, Acott TS (2009). Stem cells in the trabecular meshwork: Present and future promises. Exp Eye Res 88(4):747–51.
   PubMedGoogle Scholar
• Khare PD, Loewen N, Teo W-L, Barraza RA, Saenz DT, Johnson DH (2008). Durable, safe, multi-gene lentiviral vector expression in feline trabecular meshwork. Mol Ther 16:97–106.
   PubMedGoogle Scholar
• Kumar S, Chanda D, Ponnazhagan S (2008). Therapeutic potential of genetically modified mesenchymal stem cells. Gene Ther 15:711–15.
   PubMed Web of Science ®Google Scholar
• Lamba D, Karl M, Reh T (2008). Neural regeneration and cell replacement: a view from the eye. Cell Stem Cell 2:538–49.
   PubMedGoogle Scholar
• Larsen-Su SA, Williams DE (2001). Transplacental exposure to indole-3-carbinol induces sex-specific expression of CYP1A1 and CYP1B1 in the liver of Fischer 344 neonatal rats. Toxicol Sci 64:162–8.
   PubMedGoogle Scholar
• Lebrun-Julien F, Di Polo A (2008). Molecular and cell-based approaches for neuroprotection in glaucoma. Optom Vis Sci 85:417–24.
   PubMed Web of Science ®Google Scholar
• Lee DA, Higginbotham EJ (2005). Glaucoma and its treatment: a review. Am J Hlth Sys Pharm 62:691–9.
   PubMed Web of Science ®Google Scholar
• Libby RT, Smith RS, Savinova OV, Zabaleta A, Martin JE, Gonzalez FJ, John SW (2003). Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science 299:1578–81.
   PubMed Web of Science ®Google Scholar
• Liton PB, Challa P, Stinnett S, Luna C, Epstein DL, Gonzalez P (2005). Cellular senescence in the glaucomatous outflow pathway. Exp Gerontol 40:745–8.
   PubMed Web of Science ®Google Scholar
• López-Garrido M-P, Sánchez-Sánchez F, López-Martínez F, Aroca-Aguilar J-D, Blanco-Marchita C, Coca-Prados M, Escribano J (2006). Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 12:748–55.
   PubMed Web of Science ®Google Scholar
• Lutjen-Drecoll E (1998). Functional morphology of the trabecular meshwork in primate eyes. Progr Ret Eye Res 18:91–119.
   Google Scholar
• Lutjen-Drecoll E, Shimizu T, Rohrbach M, Rohen JW (1986). Quantitative analysis of ‘plaque material’ in the inner- and outer wall of Schlemm’s canal in normal- and glaucomatous eyes. Exp Eye Res 42:443–55.
   PubMed Web of Science ®Google Scholar
• McGowan SL, Edelhauser HF, Pfister RR, Whikehart DR (2007). Stem cell markers in the human posterior limbus and corneal endothelium of unwounded and wounded corneas. Mol Vis 13:1984–2000.
   PubMed Web of Science ®Google Scholar
• Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ. (2004). CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet 41(9):647–51.
   PubMedGoogle Scholar
• Meyer JS, Katz ML, Maruniak JA, Kirk MD (2006). Embryonic stem cell-derived neural progenitors incorporate into degenerating retina and enhance survival of host photoreceptors. Stem Cell 24:274–83.
   PubMed Web of Science ®Google Scholar
• Murry CE, Keller G (2008). Differentiation of embryonic stem cells to clinically relevant populations: lessons from embryonic development. Cell 132:661–80.
   PubMed Web of Science ®Google Scholar
• Nadri S, Soleimani M, Mobarra Z, Amini S (2008). Expression of dopamine-associated genes on conjunctiva stromal-derived human mesenchymal stem cells. Biochem Biophys Res Comm 377:423–8.
   PubMed Web of Science ®Google Scholar
• Nebert DW (1991). Proposed role of drug-metabolizing enzymes: regulation of steady state levels of the ligands that effect growth, homeostasis, differentiation, and neuroendocrine functions. Mol Endocrinol 5:1203–14.
   PubMed Web of Science ®Google Scholar
• O’Sullivan F, Clynes M (2007). Limbal stem cells, a review of their identification and culture for clinical use. Cytotechnol 53:101–6.
   PubMedGoogle Scholar
• Plasilova M, Ferakova E, Kadasi L, Polakova H, Gerinec A, Ott J, Ferak V (1998). Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. Hum Heredity 48:30–3.
   PubMed Web of Science ®Google Scholar
• Plasilova M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V (1999). Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 36:290–4.
   PubMed Web of Science ®Google Scholar
• Quigley HA, Broman AT (2006). The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 90:262–7.
   PubMed Web of Science ®Google Scholar
• Rao M (2008). Scalable human ES culture for therapeutic use: propagation, differentiation, genetic modification and regulatory issues. Gene Ther 15:82–8.
   PubMed Web of Science ®Google Scholar
• Raucy JL, Carpenter SJ (1993). The expression of xenobiotic- metabolizing cytochromes P450 in foetal tissues. J Pharmacol Toxicol Meth 29:121–8.
   PubMed Web of Science ®Google Scholar
• Ray WJ, Bain G, Yao M, Gottlieb DI (1997). CYP26, a novel mammalian cytochrome P450, is induced by retinoic acid and defines a new family. J Biol Chem 272:18702–8.
   PubMed Web of Science ®Google Scholar
• Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS (1995). Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30:171–7.
   PubMed Web of Science ®Google Scholar
• Schenkman JB, Choudhary D, Jansson I, Sarfarazi M, Stoilov I (2003). Involvement of cytochromes P450 in development. Proc Ind Natl Sci Acad B 69:917–29.
   Google Scholar
• Smith RS, John SWM, Nishina PM (2002a). Posterior segment and orbit. In: Smith RS, John SWM, Nishina PM, Sundberg JP eds, Systemic evaluation of the mouse eye: anatomy, biochemistry and biomethods. Boca Raton, FLL CRC Press, 25–44.
   Google Scholar
• Smith RS, Kao W, John SWM (2002b). Normal development and congenital abnormalities. In: Smith RS, John SWM, Nishina PM, Sundberg JP eds, Systemic evaluation of the mouse eye: anatomy, biochemistry and biomethods. Boca Raton, FLL CRC Press, 45–63.
   Google Scholar
• Spaide RF (2008). The potential of pluripotent cells in vitreoretinal diseases. Retina 28:1031–4.
   PubMedGoogle Scholar
• Stoilov I (2001). Cytochrome P450s: coupling, development and environment. Trend Genet 17:629–32.
   PubMed Web of Science ®Google Scholar
• Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, Aktan SG, Chevrette L, Coca-Prados M, Sarfarazi M (1998). Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet 62:573–84.
   PubMed Web of Science ®Google Scholar
• Stoilov I, Akarsu AN, Sarfarazi M (1997). Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1). as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 6:641–7.
   PubMed Web of Science ®Google Scholar
• Stoilov I, Jansson I, Sarfarazi M, Schenkman JB (2001). Roles of cytochrome P450 in development. Drug Metab Drug Interact 18:33–55.
   PubMedGoogle Scholar
• Stoilov I, Rezaie T, Jansson I, Schenkman JB, Sarfarazi M (2004). Expression of cytochrome P4501b1 (Cyp1b1) during early murine development. Mol Vis 10:629–36.
   PubMed Web of Science ®Google Scholar
• Suri F, Kalhor R, Zargar SJ, Nilforooshan N, Yazdani S, Nezari H, Paylakhi SH, Narooie-Nejhad M, Bayat B, Sedaghati T, Ahmadian A, Elahi E. (2008). Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol. Mol Vis 14:2349–56.
   PubMedGoogle Scholar
• Swijnenburg RJ, Schrepfer S, Govaert JA, Cao F, Ransohoff K, Sheikh AY, Haddad M, Connolly AJ, Davis MM, Robbins RC, Wu JC (2008). Immunosuppressive therapy mitigates immunological rejection of human embryonic stem cell xenografts. Proc Natl Acad Sci USA 105:12991–6.
   PubMed Web of Science ®Google Scholar
• Swindell EC, Thaller C, Sockanathan S, Petkovich M, Jessell TM, Eichele G (1999). Complementary domains of retinoic acid production and degradation in the early chick embryo. Develop Biol 216:282–96.
   PubMed Web of Science ®Google Scholar
• Takahashi K, Yamanaka S (2006). Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126:663–76.
   PubMed Web of Science ®Google Scholar
• Taylor CJ, Bolton EM, Pocock S, Sharples LD, Pedersen RA, Bradley JA (2005). Banking on human embryonic stem cells: estimating the number of donor cell lines needed for HLA matching. Lancet 366:2019–25.
   PubMed Web of Science ®Google Scholar
• Tektas OY, Lutjen-Drecoll E (2009). Structural changes of the trabecular meshwork in different kinds of glaucoma. Exp Eye Res 88(4):769-75.
   PubMedGoogle Scholar
• Varma R, Peeples P, Walt JG, Bramley TJ (2008). Disease progression and the need for neuroprotection in glaucoma management. Am J Manag Care 14:S15–19.
   PubMedGoogle Scholar
• Vasiliou V, Gonzalez FJ (2008). Role of CYP1B1 in glaucoma. Ann Rev Pharmacol Toxicol 48:333–58.
   PubMed Web of Science ®Google Scholar
• Vincent A, Billingsley G, Priston M, Glaser T, Oliver E, Walter M, Ritch R, Levin A, Heon E (2006). Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis 12:506–10.
   PubMed Web of Science ®Google Scholar
• Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Heon E (2002). Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 70:448–60.
   PubMed Web of Science ®Google Scholar
• Walker NJ, Crofts FG, Li Y, Lax SF, Hayes CL, Strickland PT, Lucier GW, Sutter TR (1998). Induction and localization of cytochrome P450 1B1 (CYP1B1) protein in the livers of TCDD-treated rats: detection using polyclonal antibodies raised to histidine-tagged fusion proteins produced and purified from bacteria. Carcinogenesis 19:395–402.
   PubMedGoogle Scholar
• Wang N, Chintala SK, Fini ME, Schuman JS (2001). Activation of a tissue-specific stress response in the aqueous outflow pathway of the eye defines the glaucoma disease phenotype. Nat Med 7:304–9.
   PubMed Web of Science ®Google Scholar
• Weinreb RN (2007). Glaucoma neuroprotection: What is it? Why is it needed? Can J Ophthalmol 42:396–8.
   PubMed Web of Science ®Google Scholar
• White JA, Beckett-Jones B, Guo YD, Dilworth FJ, Bonasoro J, Jones G, Petkovich M (1997). cDNA cloning of human retinoic acid- metabolizing enzyme (hP450RAI) identifies a novel family of cytochromes P450. J Biol Chem 272:18538–541.
   PubMed Web of Science ®Google Scholar