Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma

BMC Biology

Volumn 4, Issue , 2006, Pages

  Anderson, Michael G ^a,b   Libby, Richard T ^a   Mao, Mao ^b   Cosma, Ioan M ^a   Wilson, Larry A ^a   Smith, Richard S ^a   John, Simon W M ^a,c,d  

^a JACKSON LABORATORY   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; TYROSINASE RELATED PROTEIN 1; TYROSINE PHENOL LYASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONGENIC STRAIN; CONTROLLED STUDY; DISEASE SEVERITY; GENE MUTATION; GENETIC EPISTASIS; GENETIC SUSCEPTIBILITY; GLAUCOMA; INTRAOCULAR HYPERTENSION; IRIS DISEASE; MELANOGENESIS; MOUSE; MOUSE STRAIN; NONHUMAN; PROTEIN FUNCTION; ANIMAL; C57BL MOUSE; DBA MOUSE; EPISTASIS; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; INTRAOCULAR PRESSURE; MALE; PHENOTYPE; TRANSGENIC MOUSE;

ANIMALS; EPISTASIS, GENETIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLAUCOMA; HUMANS; INTRAOCULAR PRESSURE; MALE; MICE; MICE, INBRED C57BL; MICE, INBRED DBA; MICE, TRANSGENIC; PHENOTYPE;

EID: 33747236156     PISSN: 17417007     EISSN: 17417007     Source Type: Journal    
DOI: 10.1186/1741-7007-4-20     Document Type: Article

References (61)

1. Allingham RR, Damji KF, Freedman S, Moroi SE, Shafranov G, Shields MB: Shields' Textbook of Glaucoma. 5th edition. Philadelphia: Lippincott Williams and Wilkins; 2004.
2. Nickells RW, Jampel HD, Zack DJ: Glaucoma. In Emery & Rimoins Principles and Practices of Medical Genetics Volume 3. 4th edition. Edited by: Rimoin DL, Conner MJ, Pyeritz RE, Korf BR. Churchill Livingstone; 2002:3491-3512.
3. Ritch R, Shields MB, Krupin T: The Glaucomas. St Louis Mosby; 1996.
4. Palmberg PF, Wiggs JL: Mechanisms of glaucoma. In Ophthalmology 2nd edition. Edited by: Yanoff M, Duker JS. St Louis: Mosby; 2004.
5. Weinreb RN, Khaw PT: Primary open-angle glaucoma. Lancet 2004, 363(9422):1711-1720.
6. Ball SF: Pigmentary Glaucoma. In Ophthalmology Second edition. Edited by: Yanoff M, Duker JS. St Louis: Mosby; 2004:1504-1507.
7. Ritch R: A unification hypothesis of pigment dispersion syndrome. Trans Am Ophthalmol Soc 1996, 94:381-405. discussion 405-389
8. Farrar SM, Shields MB, Miller KN, Stoup CM: Risk factors for the development and severity of glaucoma in the pigment dispersion syndrome. Am J Ophthalmol 1989, 108(3):223-229.
9. Migliazzo CV, Shaffer RN, Nykin R, Magee S: Long-term analysis of pigmentary dispersion syndrome and pigmentary glaucoma. Ophthalmology 1986, 93(12):1528-1536.
10. Richter CU, Richardson TM, Grant WM: Pigmentary dispersion syndrome and pigmentary glaucoma. A prospective study of the natural history. Arch Ophthalmol 1986, 104(2):211-215.
11. Scheie HG, Cameron JD: Pigment dispersion syndrome: aclinical study. Br J Ophthalmol 1981, 65(4):264-269.
12. Siddiqui Y, Ten Hulzen RD, Cameron JD, Hodge DO, Johnson DH: What is the risk of developing pigmentary glaucoma from pigment dispersion syndrome? Am J Ophthalmol 2003, 135(6):794-799.
13. John SW, Anderson MG, Smith RS: Mouse genetics: a tooll to help unlock the mechanisms of glaucoma. J Glaucoma 1999, 8(6):400-412.
14. Libby RT, Gould DB, Anderson MG, John SW: Complex genetics of glaucoma susceptibility. Annu Rev Genomics Hum Genet 2005, 6:15-44.
15. Lindsey JD, Weinreb RN: Elevated intraocular pressure and transgenic applications in the mouse. J Glaucoma 2005, 14(4):318-320.
16. Weinreb RN, Lindsey JD: The importance of models in glaucoma research. J Glaucoma 2005, 14(4):302-304.
17. Bayer AU, Neuhardt T, May AC, Marcus P, Maag KP, Brodie S, Lutjen-Drecoll E, Podos SM, Mittag T: Retinal morphology and ERG response in the DBA/2NNia mouse model of angle-closure glaucoma. Invest Ophthalmol Vis Sci 2001, 42(6):1258-1265.
18. John SW, Smith RS, Savinova OV, Hawes NL, Chang B, Turnbull D, Davisson M, Roderick TH, Heckenlively JR: Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice. Invest Ophthalmol Vis Sci 1998, 39(6):951-962.
19. Libby RT, Anderson MG, Pang I-H, Robinson ZH, Savinova O, Cosma IM, Snow A, Wilson LA, Smith RS, Clark AF, et al.: Inherited glaucoma in DBA/2J mice: Pertinent disease features for studying the neurodegeneration. Visual Neuroscience 2005, 22:1-12.
20. Sheldon WG, Warbritton AR, Bucci TJ, Turturro A: Glaucoma in food-restricted and ad libitum-fed DBA/2NNia mice. Lab Anim Sci 1995, 45(5):508-518.
21. Zhou X, Li F, Kong L, Tomita H, Li C, Cao W: Involvement of inflammation, degradation, and apoptosis in a mouse model of glaucoma. J Biol Chem 2005, 280(35):31240-31248.
22. Chang B, Smith RS, Hawes NL, Anderson MG, Zabaleta. A, Savinova O, Roderick TH, Heckenlively JR, Davisson MT, John SW: Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat Genet 1999, 21(4):405-409.
23. Anderson MG, Smith RS, Hawes NL, Zabaleta A, Chang B, Wiggs JL, John SW: Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat Genet 2002, 30(1):81-85.
24. Kobayashi T, Imokawa G, Bennett DC, Hearing VJ: Tyrosinase stabilization by TyrpI (the brown locus protein). J Biol Chem 1998, 273(48):31801-31805.
25. Kobayashi T, Urabe K, Winder A, Jimenez-Cervantes C, Imokawa G, Brewington T, Solana F, Garcia-Borron JC, Hearing VJ: Tyrosinase related protein I (TRPI) functions as a DHICA oxidase in melanin biosynthesis. Embo J 1994, 13(24):5818-5825.
26. Kobayashi T, Urabe K, Winder A, Tsukamoto K, Brewington T, Imokawa G, Potterf B, Hearing VJ: DHICA oxidase activity of TRPI and interactions with other melanogenic enzymes. Pigment Cell Res 1994, 7(4):227-234.
27. Le Borgne R, Planque N, Martin P, Dewitte F, Saule S, Hoflack B: The AP-3-dependent targeting of the melanosomal glycoprotein QNR-71 requires a di-leucine-based sorting signal. J Cell Sci 2001, 114(Pt 15):2831-2841.
28. Shikano S, Bonkobara M, Zukas PK, Ariizumi K: Molecular cloning of a dendritic cell-associated transmembrane protein, DC-HIL, that promotes RGD-dependent adhesion of endothelial cells through recognition of heparan sulfate proteoglycans. J Biol Chem 2001, 276(11):8125-8134.
29. Bachner D, Schroder D, Gross G: mRNA expression of the murine glycoprotein (transmembrane) nmb (Gpnmb) gene is linked to the developing retinal pigment epithelium and iris. Brain Res Gene Expr Patterns 2002, 1(3-4):159-165.
30. Onaga M, Ido A, Hasuike S, Uto H, Moriuchi A, Nagata K, Hori T, Hayash K, Tsubouchi H: Osteoactivin expressed during cirrhosis development in rats fed a choline-deficient, L-amino acid-defined diet, accelerates motility of hepatoma cells. J Hepatol 2003, 39(5):779-785.
31. Owen TA, Smock SL, Prakash S, Pinder L, Brees D, Krull D, Castleberry TA, Clancy YC, Marks SC Jr, Safadi FF, et al.: Identification and characterization of the genes encoding human and mouse osteoactivin. Crit Rev Eukaryot Gene Expr 2003, 13(2-4): 205-220.
32. Rich JN, Shi Q, Hjelmeland M, Cummings TJ, Kuan CT, Bigner DD, Counter CM, Wang XF: Bone-related genes expressed in advanced malignancies induce invasion and metastasis in a genetically defined human cancer model. J Biol Chem 2003, 278(18):15951-15957.
33. Safadi FF, Xu J, Smock SL, Rico MC, Owen TA, Popoff SN: Cloning and characterization of osteoactivin, a novel cDNA expressed in osteoblasts. J Cell Biochem 2001, 84(1):12-26.
34. Bennett DC, Lamoreux ML: The color loci of mice - a genetic century. Pigment Cell Res 2003, 16(4):333-344.
35. Zdarsky E, Favor J, Jackson IJ: The molecular basis of brown, an old mouse mutation, and of an induced revertant to wild type. Genetics 1990, 126(2):443-449.
36. Anderson MG, Smith RS, Savinova OV, Hawes NL, Chang B, Zabaleta A, Wilpan R, Heckenlively JR, Davisson M, John SW: Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice. BMC Genet 2001, 2(1):1.
37. Feng L, Novak EK, Hartnell LM, Bonifacino JS, Collinson LM, Swank RT: The Hermansky-Pudlak syndrome I (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood 2002, 99(5):1651-1658.
38. Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, et al.: Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex I (BLOC-I). Nat Genet 2003, 35(1):84-89.
39. Le Fur N, Kelsall SR, Mintz B: Base substitution at different alternative splice donor sites of the tyrosinase gene in murine albinism. Genomics 1996,37(2):245-248.
40. Green E: Albino-2J (c < 2J >). Mouse News Lett 1973, 49:31.
41. Kaiser PK, Friedman NJ, Pineda R: The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. 2nd edition. Philadelphia: Saunders; 2004.
42. Anderson MG, Libby RT, Gould DB, Smith RS, John SW: High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma. Proc Natl Acad Sci U S A 2005, 102(12):4566-4571.
43. Libby RT, Li Y, Savinova OV, Barter J, Smith RS, Nickells RW, John SW: Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage. PLoS Genet 2005, 1(1):17-26.
44. Lamoreux ML: The inbred mouse in pigmentation research: significance of a congenic developmental system. Pigment Cell Res 2000, 13(6):421-430.
45. Hearing VJ: Biogenesis of pigment granules: a sensitive way to regulate melanocyte function. J Dermatol Sci 2005, 37(1):3-14.
46. Pawelek JM, Lerner AB: 5,6-Dihydroxyindole is a melanin precursor showing potent cytotoxicity. Nature 1978, 276(5688):626-628.
47. Smit NPM, Pavel S, Riley PA: Mechanisms of control of the cytotoxicity of orthoquinone intermediates of melanogenesis. In Role of catechol quinone species in cellular toxicity Edited by: Creveling CR. Johnson City, TN: F.P. Graham Publishing; 2000:191-245.
48. Danias J, Lee KC, Zamora MF, Chen B, Shen F, Filippopoulos T, Su Y, Goldblum D, Podos SM, Mittag T: Quantitative analysis of retinal ganglion cell (RGC) loss in aging DBA/2NNia glaucomatous mice: comparison with RGC loss in aging C57/BL6 mice. Invest Ophthalmol Vis Sci 2003, 44(12):5151-5162.
49. Jakobs TC, Libby RT, Ben Y, John SW, Masland RH: Retinal ganglion cell degeneration is topological but not cell type specific in DBA/2J mice. J Cell Biol 2005, 171(2):313-325.
50. Andersen JS, Pralea AM, DelBono EA, Haines JL, Gorin MB, Schuman JS, Mattox CG, Wiggs JL: A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36. Arch Ophthalmol 2005, 115(3):384-388.
51. Bovell AM, Damji KF, Dohadwala AA, Hodge WG, Allingham RR: Familial occurrence of pigment dispersion syndrome. Can J Ophthalmol 2001, 36(1):11-17.
52. Mandelkorn RM, Hoffman ME, Olander KW, Zimmerman T, Harsha D: Inheritance and the pigmentary dispersion syndrome. Ann Ophthalmol 1983, 15(6):577-582.
53. Lynch S, Yanagi G, DelBono E, Wiggs JL: DNA sequence variants in the tyrosinase-related protein I (TYRPI) gene are not associated with human pigmentary glaucoma. Mol Vis 2002, 8:127-129.
54. Alvarado JA, Murphy CG: Outflow obstruction in pigmentary and primary open angle glaucoma. Arch Ophthalmol 1992, 110(12):1769-1778.
55. Murphy CG, Johnson M, Alvarado JA: Juxtacanalicular tissue in pigmentary and primary open angle glaucoma. The hydrodynamic role of pigment and other constituents. Arch Ophthalmol 1992, 110(12):1779-1785.
56. Smithies O, Maeda N: Gene targeting approaches to complex genetic diseases: atherosclerosis and essential hypertension. Proc Natl Acad Sci U S A 1995, 92(12):5266-5272.
57. Gould DB, Miceli-Libby L, Savinova OV, Torrado M, Tomarev SI, Smith RS, John SW: Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Mol Cell Biol 2004, 24(20):9019-9025.
58. John SW, Savinova OV: Intraocular pressure measurement in mice: technical aspects. In Systemic Evaluation of the Mouse Eye Edited by: Smith RS. Boca Raton: CRC Press; 2002.
59. Savinova OV, Sugiyama F, Martin JE, Tomarev SI, Paigen BJ, Smith RS, John SW: Intraocular pressure in genetically distinct mice: an update and strain survey. BMC Genet 2001, 2(1):12.
60. Mo JS, Anderson MG, Gregory M, Smith RS, Savinova OV, Serreze DV, Ksander BR, Streilein JW, John SW: By altering ocular immune privilege, bone marrow-derived cells pathogenically contribute to DBA/2J pigmentary glaucoma. J Exp Med 2003, 197(10):1335-1344.
61. Smith RS, Zabaleta A, John SW, Bechtold LS, Ikeda S, Relyea MJ, Sundberg JP, Kao WW-Y, Liu C-Y: General and Special Histopathology. In Systemic Evaluation of the Mouse Eye Edited by: Smith RS. Boca Raton: CRC Press; 2002:265-297.