Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A)

Ryo Kubota, Jun Kudoh, Yukihiko Mashima, Shuichi Asakawa, Shinsei Minoshima, J. Fielding Hejtmancik, Yoshihisa Oguchi, Nobuyoshi Shimizu

Research output: Contribution to journalArticle

54 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)396-400
Number of pages5
JournalBiochemical and Biophysical Research Communications
Volume242
Issue number2
DOIs
Publication statusPublished - 1998 Jan 14

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

Fingerprint Dive into the research topics of 'Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A)'. Together they form a unique fingerprint.

  • Cite this

    Kubota, R., Kudoh, J., Mashima, Y., Asakawa, S., Minoshima, S., Hejtmancik, J. F., Oguchi, Y., & Shimizu, N. (1998). Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A). Biochemical and Biophysical Research Communications, 242(2), 396-400. https://doi.org/10.1006/bbrc.1997.7972