| First Author | Brakenhoff RH | Year | 1994 |
| Journal | Hum Mol Genet | Volume | 3 |
| Issue | 2 | Pages | 279-83 |
| PubMed ID | 8004095 | Mgi Jnum | J:44597 |
| Mgi Id | MGI:1100549 | Doi | 10.1093/hmg/3.2.279 |
| Citation | Brakenhoff RH, et al. (1994) Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum Mol Genet 3(2):279-83 |
| abstractText | The locus for the hereditary human Coppock-like cataract (CCL) is closely linked to a particular combination of polymorphic TaqI sites within the human gamma-crystallin gene cluster. Mapping of these sites shows that they define a 15 kb region encompassing the gamma D and psi gamma E gene. The gamma D and the psi gamma E gene were cloned from the CCL chromosome and characterized. The gamma D gene was functionally equivalent to its allele cloned from a wild-type chromosome. The CCL psi gamma E gene contains a cluster of sequence changes within and around its TATA box. Together these cause a ten-fold increase in the activity of the psi gamma E promoter, raising the level of expression of this gene to 30% of that of the gamma D gene. The predicted protein product of the psi gamma E gene is a 6 kD N-terminal gamma-crystallin fragment. Reactivation of the psi gamma E gene and concomitant overexpression of the gamma-crystallin fragment could be the cause of the Coppock-like cataract. |
