| First Author | Tomarev SI | Year | 1998 |
| Journal | Biochem Biophys Res Commun | Volume | 245 |
| Issue | 3 | Pages | 887-93 |
| PubMed ID | 9588210 | Mgi Jnum | J:47336 |
| Mgi Id | MGI:1203319 | Doi | 10.1006/bbrc.1998.8541 |
| Citation | Tomarev SI, et al. (1998) Characterization of the mouse Myoc/Tigr gene. Biochem Biophys Res Commun 245(3):887-93 |
| abstractText | Mutations in the myocilin (MYOC), also known as Trabecular meshwork-Inducible Glucocorticoid Response (TIGR) gene can lead to juvenile open-angle glaucoma in human and may be responsible for at least 3% of primary open-angle glaucoma. To develop a mouse model of primary open angle glaucoma, and to get deeper insight into the mechanisms of the MYOC/TIGR gene regulation and function, we have isolated and characterized full size mouse Myoc/Tigr cDNA and genomic clones. The mouse and human MYOC/TIGR genes have the same exon-intron structure and contain 3 exons, although the mouse gene is 6 kb shorter than the human gene (10 kb versus 16 kb) due to differences in the length of introns. The MYOC/TIGR gene encodes a moderately conserved protein, which is 82% identical between human and mouse. The encoded protein is 14 amino acids shorter at the N-terminus in the mouse than in the human (490 versus 504 amino acids). Mouse and human MYOC/TIGR genes show a similar pattern of expression in adult ocular and nonocular tissues. The mouse Myoc/Tigr gene was mapped to Chromosome 1 at position 82.8 cM from the centromere. All residues, which were identified in the human MYOC/TIGR protein as critical for glaucoma development, are conserved in the mouse Myoc/Tigr. (C) 1998 Academic Press. |
