Faculty Research 1990 - 1999

Title

Characterization of the mouse Myoc/Tigr gene.

Document Type

Article

Publication Date

1998

Keywords

Amino-Acid-Sequence, Animal, Base-Sequence, Blotting-Northern, Chromosome-Mapping, Cytoskeletal-Proteins: ge, Eye-Proteins: ge, Glaucoma-Open-Angle: ge, Glycoproteins: ge, Human, Leucine-Zippers, Mice, Mice-Inbred-BALB-C, Molecular-Sequence-Data, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S

JAX Source

Biochem Biophys Res Commun 1998 Apr 28;245(3):887-93

Grant

EY07757/EY/NEI, EY05578/EY/NEI

Abstract

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.

Please contact the Joan Staats Library for information regarding this document.

Share

COinS