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

Biochem Biophys Res Commun. 1998 Jan 14;242(2):396-400. doi: 10.1006/bbrc.1997.7972.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cloning, Molecular
  • Cytoskeletal Proteins / chemistry*
  • Dinucleotide Repeats / genetics
  • Eye Diseases / genetics
  • Eye Proteins / chemistry*
  • Glaucoma, Open-Angle / etiology*
  • Glycoproteins*
  • Humans
  • Molecular Sequence Data
  • Sequence Analysis, DNA


  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • trabecular meshwork-induced glucocorticoid response protein

Associated data

  • GENBANK/AB006686
  • GENBANK/AB006687
  • GENBANK/AB006688