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Mammalian Genetic Models with Minimal or Complex Phenotypes

Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

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Pages 7707-7713 | Received 04 Apr 2001, Accepted 06 Aug 2001, Published online: 28 Mar 2023

REFERENCES

  • Abderrahim, H., V. L. Jaramillo-Babb, Z. Zhou, and D. Vollrath. 1998. Characterization of the murine TIGR/myocilin gene. Mamm. Genome 9:673–675.
  • Adam, M. F., A. Belmouden, P. Binisti, A. P. Brezin, F. Valtot, A. Bechetoille, J. C. Dascotte, B. Copin, L. Gomez, A. Chaventre, J. F. Bach, and H. J. Garchon. 1997. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum. Mol. Genet. 6:2091–2097.
  • Albrecht, U., R. Abu-Issa, B. Ratz, M. Hattori, J. Aoki, H. Arai, K. Inoue, and G. Eichele. 1996. Platelet-activating factor acetylhydrolase expression and activity suggest a link between neuronal migration and platelet-activating factor. Dev. Biol. 180:579–593.
  • Arango, N. A., R. Lovell-Badge, and R. R. Behringer. 1999. Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic pathways of vertebrate sexual development. Cell 99:409–419.
  • Chen, H., Y. Lun, D. Ovchinnikov, H. Kokubo, K. C. Oberg, C. V. Pepicelli, L. Gan, B. Lee, and R. L. Johnson. 1998. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat. Genet. 19:51–55.
  • Choplin, N. T., and D. C. Lundy. 1998. Atlas of glaucoma. Martin Dunitz Ltd., London, England
  • Gage, P. J., and S. A. Camper. 1997. Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation. Hum. Mol. Genet. 6:457–464.
  • Hanson, I. M., J. M. Fletcher, T. Jordan, A. Brown, D. Taylor, R. J. Adams, H. H. Punnett, and V. van Heyningen. 1994. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat. Genet. 6:168–173.
  • Hawes, N. L., R. S. Smith, B. Chang, M. Davisson, J. R. Heckenlively, and S. W. John. 1999. Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes. Mol. Vis. 5:22
  • Jacobson, N., M. Andrews, A. R. Shepard, D. Nishimura, C. Searby, J. H. Fingert, G. Hageman, R. Mullins, B. L. Davidson, Y. H. Kwon, W. L. Alward, E. M. Stone, A. F. Clark, and V. C. Sheffield. 2001. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum. Mol. Genet. 10:117–125.
  • John, S. W., J. R. Hagaman, T. E. MacTaggart, L. Peng, and O. Smithes. 1997. Intraocular pressure in inbred mouse strains. Investig. Ophthalmol. Vis. Sci. 38:249–253.
  • John, S. W., R. S. Smith, O. V. Savinova, N. L. Hawes, B. Chang, D. Turnbull, M. Davisson, T. H. Roderick, and J. R. Heckenlively. 1998. Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice. Investig. Ophthalmol. Vis. Sci. 39:951–962.
  • Karali, A., P. Russell, F. H. Stefani, and E. R. Tamm. 2000. Localization of myocilin/trabecular meshwork—inducible glucocorticoid response protein in the human eye. Investig. Ophthalmol. Vis. Sci. 41:729–740.
  • Kidson, S. H., T. Kume, K. Deng, V. Winfrey, and B. L. Hogan. 1999. The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye. Dev. Biol. 211:306–322.
  • Kubota, R., S. Noda, Y. Wang, S. Minoshima, S. Asakawa, J. Kudoh, Y. Mashima, Y. Oguchi, and N. Shimizu. 1997. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics 41:360–369.
  • Kulak, S. C., K. Kozlowski, E. V. Semina, W. G. Pearce, and M. A. Walter. 1998. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum. Mol. Genet. 7:1113–1117.
  • Kulkarni, N. H., C. A. Karavanich, W. R. Atchley, and R. R. Anholt. 2000. Characterization and differential expression of a human gene family of olfactomedin-related proteins. Genet. Res. 76:41–50.
  • Lam, D. S., Y. F. Leung, J. K. Chua, L. Baum, D. S. Fan, K. W. Choy, and C. P. Pang. 2000. Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Investig. Ophthalmol. Vis. Sci. 41:1386–1391.
  • Lutjen-Drecoll, E.. 1999. Functional morphology of the trabecular meshwork in primate eyes. Prog. Retin. Eye Res. 18:91–119.
  • Morissette, J., C. Clepet, S. Moisan, S. Dubois, E. Winstall, D. Vermeeren, T. D. Nguyen, J. R. Polansky, G. Cote, J. L. Anctil, M. Amyot, M. Plante, P. Falardeau, and V. Raymond. 1998. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat. Genet. 19:319–321.
  • Nguyen, T. D., P. Chen, W. D. Huang, H. Chen, D. Johnson, and J. R. Polansky. 1998. Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J. Biol. Chem. 273:6341–6350.
  • Nishimura, D. Y., R. E. Swiderski, W. L. Alward, C. C. Searby, S. R. Patil, S. R. Bennet, A. B. Kanis, J. M. Gastier, E. M. Stone, and V. C. Sheffield. 1998. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat. Genet. 19:140–147.
  • Polansky, J. R., D. J. Fauss, P. Chen, H. Chen, E. Lutjen-Drecoll, D. Johnson, R. M. Kurtz, Z. D. Ma, E. Bloom, and T. D. Nguyen. 1997. Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product. Ophthalmologica 211:126–139.
  • Quigley, H. A., and S. Vitale. 1997. Models of open-angle glaucoma prevalence and incidence in the United States. Investig. Ophthalmol. Vis. Sci. 38:83–91.
  • Shields, M. B.. 1997. Textbook of glaucoma, 4th ed. Lippincott, Williams & Wilkins, Baltimore, Md
  • Smith, R. S., A. Zabaleta, T. Kume, O. V. Savinova, S. H. Kidson, J. E. Martin, D. Y. Nishimura, W. L. Alward, B. L. Hogan, and S. W. John. 2000. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum. Mol. Genet. 9:1021–1032.
  • Smith, R. S., A. Zabaleta, O. V. Savinova, and S. W. John. 2001. The mouse anterior chamber angle and trabecular meshwork develop without cell death. BMC Dev. Biol. 1:3
  • Stoilova, D., A. Child, G. Brice, R. P. Crick, B. W. Fleck, and M. Sarfarazi. 1997. Identification of a new ‘TIGR’ mutation in a family with juvenile-onset primary open angle glaucoma. Ophthalmic Genet. 18:109–118.
  • Stoilova, D., A. Child, G. Brice, T. Desai, M. Barsoum-Homsy, N. Ozdemir, L. Chevrette, M. F. Adam, H. J. Garchon, R. Pitts Crick, and M. Sarfarazi. 1998. Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. J. Med. Genet. 35:989–992.
  • Stone, E. M., J. H. Fingert, W. L. M. Alward, T. D. Nguyen, J. R. Polansky, S. L. F. Sunden, D. Nishimura, A. F. Clark, A. Nystuen, B. E. Nichols, D. A. Mackey, R. Ritch, J. W. Kalenak, E. R. Craven, and V. C. Sheffield. 1997. Identification of a gene that causes primary open angle glaucoma. Science 275:668–670.
  • Suzuki, Y., S. Shirato, F. Taniguchi, K. Ohara, K. Nishimaki, and S. Ohta. 1997. Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am. J. Hum. Genet. 61:1202–1204.
  • Swiderski, R. E., L. Ying, M. D. Cassell, W. L. Alward, E. M. Stone, and V. C. Sheffield. 1999. Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. Brain Res. Mol. Brain Res. 68:64–72.
  • Takahashi, H., S. Noda, Y. Imamura, A. Nagasawa, R. Kubota, Y. Mashima, J. Kudoh, Y. Oguchi, and N. Shimizu. 1998. Mouse myocilin (Myoc) gene expression in ocular tissues. Biochem. Biophys. Res. Commun. 248:104–109.
  • Tomarev, S. I., E. R. Tamm, and B. Chang. 1998. Characterization of the mouse Myoc/Tigr gene. Biochem. Biophys. Res. Commun. 245:887–893.
  • Vollrath, D., V. L. Jaramillo-Babb, M. V. Clough, I. McIntosh, K. M. Scott, P. R. Lichter, and J. E. Richards. 1998. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum. Mol. Genet. 7:1091–1098.
  • Yokoe, H., and R. R. Anholt. 1993. Molecular cloning of olfactomedin, an extracellular matrix protein specific to olfactory neuroepithelium. Proc. Natl. Acad. Sci. USA 90:4655–4659.

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