title: Characterization and comparison of the human and mouse GLC1A glaucoma genes.
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.
authors.affiliation: Department of Ophthalmology, University of Iowa, Iowa City, Iowa 52242, USA.
authors.forename: J H
authors.initials: JH
authors.lastname: Fingert
authors.forename: L
authors.initials: L
authors.lastname: Ying
authors.forename: R E
authors.initials: RE
authors.lastname: Swiderski
authors.forename: A M
authors.initials: AM
authors.lastname: Nystuen
authors.forename: N C
authors.initials: NC
authors.lastname: Arbour
authors.forename: W L
authors.initials: WL
authors.lastname: Alward
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D017124:Conserved Sequence; D003598:Cytoskeletal Proteins; D005091:Exons; D005136:Eye Proteins / Q000032:analysis / Q000096:biosynthesis / Q000235:genetics*; D015870:Gene Expression; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000032:analysis / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D007438:Introns; D051379:Mice; D008969:Molecular Sequence Data; D009928:Organ Specificity / Q000235:genetics; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin