Literature DB >> 9548973

Characterization and comparison of the human and mouse GLC1A glaucoma genes.

J H Fingert1, L Ying, R E Swiderski, A M Nystuen, N C Arbour, W L Alward, V C Sheffield, E M Stone.   

Abstract

The GLC1A gene (which encodes the protein myocilin) has been associated with the development of primary open angle glaucoma. Bacterial artificial chromosomes containing the human GLC1A gene and its mouse ortholog were subcloned and sequenced to reveal the genomic structure of the genes. Comparison of the coding sequences of the human and mouse GLC1A genes revealed a high degree of amino acid homology (82%) and the presence of several conserved motifs in the predicted GLC1A proteins. The expression of GLC1A was examined by Northern blot analysis of RNA from adult human tissues. GLC1A expression was observed in 17 of 23 tissues tested, suggesting a wider range of expression than was recognized previously. The comparison of the human and mouse GLC1A genes suggests that the mouse may be a useful model organism in studying the molecular pathophysiology of glaucoma.

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Year:  1998        PMID： 9548973      PMCID： PMC310708          DOI： 10.1101/gr.8.4.377

Source DB:  PubMed          Journal:  Genome Res        ISSN： 1088-9051            Impact factor:   9.043


  13 in total

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Journal:  Anal Biochem       Date:  1991-07       Impact factor: 3.365

2.  Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product.

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Journal:  Ophthalmologica       Date:  1997       Impact factor: 3.250

3.  Partial overlapping of binding sequences for steroid hormone receptors and DNaseI hypersensitive sites in the rabbit uteroglobin gene region.

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Journal:  Nucleic Acids Res       Date:  1987-06-11       Impact factor: 16.971

4.  Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes.

Authors:  S L Sunden; W L Alward; B E Nichols; T R Rokhlina; A Nystuen; E M Stone; V C Sheffield
Journal:  Genome Res       Date:  1996-09       Impact factor: 9.043

Review 5.  Protein import into peroxisomes and biogenesis of the organelle.

Authors:  S Subramani
Journal:  Annu Rev Cell Biol       Date:  1993

6.  A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping.

Authors:  R Kubota; S Noda; Y Wang; S Minoshima; S Asakawa; J Kudoh; Y Mashima; Y Oguchi; N Shimizu
Journal:  Genomics       Date:  1997-05-01       Impact factor: 5.736

7.  Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin.

Authors:  J Ortego; J Escribano; M Coca-Prados
Journal:  FEBS Lett       Date:  1997-08-18       Impact factor: 4.124

8.  Identification of a gene that causes primary open angle glaucoma.

Authors:  E M Stone; J H Fingert; W L Alward; T D Nguyen; J R Polansky; S L Sunden; D Nishimura; A F Clark; A Nystuen; B E Nichols; D A Mackey; R Ritch; J W Kalenak; E R Craven; V C Sheffield
Journal:  Science       Date:  1997-01-31       Impact factor: 47.728

9.  Blindness and visual impairment in an American urban population. The Baltimore Eye Survey.

Authors:  J M Tielsch; A Sommer; K Witt; J Katz; R M Royall
Journal:  Arch Ophthalmol       Date:  1990-02

10.  Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

Authors:  W L Alward; J H Fingert; M A Coote; A T Johnson; S F Lerner; D Junqua; F J Durcan; P J McCartney; D A Mackey; V C Sheffield; E M Stone
Journal:  N Engl J Med       Date:  1998-04-09       Impact factor: 91.245
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  36 in total

1.  Characterization of monoclonal antibodies against the glaucoma-associated protein myocilin.

Authors:  Mohamed-Karim Ezzat; Kyle G Howell; Cindy K Bahler; Thomas G Beito; Nils Loewen; Eric M Poeschla; Michael P Fautsch
Journal:  Exp Eye Res       Date:  2008-07-12       Impact factor: 3.467

Review 2.  Glaucoma genetics.

Authors:  Pratap Challa
Journal:  Int Ophthalmol Clin       Date:  2008

Review 3.  Glaucoma-associated myocilin: a better understanding but much more to learn.

Authors:  Zachary T Resch; Michael P Fautsch
Journal:  Exp Eye Res       Date:  2008-08-29       Impact factor: 3.467

4.  Human trabecular meshwork cells exhibit several characteristics of, but are distinct from, adipose-derived mesenchymal stem cells.

Authors:  Joshua T Morgan; Joshua A Wood; Naomi J Walker; Vijay Krishna Raghunathan; Dori L Borjesson; Christopher J Murphy; Paul Russell
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5.  Myocilin regulates cell proliferation and survival.

Authors:  Myung Kuk Joe; Heung Sun Kwon; Radu Cojocaru; Stanislav I Tomarev
Journal:  J Biol Chem       Date:  2014-02-22       Impact factor: 5.157

6.  Association of MYOC and APOE promoter polymorphisms and primary open-angle glaucoma: a meta-analysis.

Authors:  Hui Guo; Minghao Li; Zhe Wang; Qiji Liu; Xinyi Wu
Journal:  Int J Clin Exp Med       Date:  2015-02-15

7.  Myocilin interacts with syntrophins and is member of dystrophin-associated protein complex.

Authors:  Myung Kuk Joe; Changwon Kee; Stanislav I Tomarev
Journal:  J Biol Chem       Date:  2012-02-25       Impact factor: 5.157

8.  Efficient in vivo doxycycline and cre recombinase-mediated inducible transgene activation in the murine trabecular meshwork.

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Journal:  Invest Ophthalmol Vis Sci       Date:  2011-02-23       Impact factor: 4.799

9.  Regulation of myocilin-associated exosome release from human trabecular meshwork cells.

Authors:  Emely A Hoffman; Kristin M Perkumas; Lindsey M Highstrom; W Daniel Stamer
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-10-24       Impact factor: 4.799

Review 10.  Primary open-angle glaucoma.

Authors:  Young H Kwon; John H Fingert; Markus H Kuehn; Wallace L M Alward
Journal:  N Engl J Med       Date:  2009-03-12       Impact factor: 91.245
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