title: Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A).
abstract: Myocilin is a newly found cytoskeletal protein involved in the morphogenesis of the basal body, a major microtubule organizing center, of the ciliated epithelium. It was recently realized that myocilin is virtually identical to the independently reported protein TIGR (trabecular meshwork-induced glucocorticoid response), which is responsible for the pathogenesis of chromosome 1q-linked primary open angle glaucoma (GLC1A). In this paper, we determined the genomic organization of the myocilin (MYOC/TIGR) gene by analyzing the nucleotide sequence of the BAC clones containing the MYOC/TIGR gene. The MYOC/TIGR gene consists of three exons. Each of the two splice donor and acceptor sites agrees well with the GT/AG rule. Primer sets to amplify each of the three exons are designed. The 5'-flanking region of MYOC gene contains the TGTTCT sequence overlapped with a palindromic sequence TTCTTTTTAAAAAGAA, which appears to be a glucocorticoid responsive element. There is also a unique sequence of dinucleotide repeat [(GT)2AA(GT)4AC(GT)13] which may also serve as a regulatory element. These results should aid in further detection of the MYOC/TIGR gene mutation and in depth understanding of the tissue-specific MYOC gene regulation.
authors.affiliation: Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Kubota
authors.forename: J
authors.initials: J
authors.lastname: Kudoh
authors.forename: Y
authors.initials: Y
authors.lastname: Mashima
authors.forename: S
authors.initials: S
authors.lastname: Asakawa
authors.forename: S
authors.initials: S
authors.lastname: Minoshima
authors.forename: J F
authors.initials: JF
authors.lastname: Hejtmancik
authors.forename: Y
authors.initials: Y
authors.lastname: Oguchi
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D003598:Cytoskeletal Proteins / Q000737:chemistry*; D018900:Dinucleotide Repeats / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics; D005136:Eye Proteins / Q000737:chemistry*; D005902:Glaucoma, Open-Angle / Q000209:etiology*; D006023:Glycoproteins; D006801:Humans; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin