Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract.

Abstract

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.

• Authors: R H Brakenhoff, H A Henskens, M W van Rossum, N H Lubsen, J G Schoenmakers
• Journal: Human molecular genetics (Hum Mol Genet) Vol. 3 Issue 2 Pg. 279-83 (Feb 1994) ISSN: 0964-6906 [Print] England
• PMID: 8004095 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Crystallins

Topics

• Base Sequence
• Cataract (genetics)
• Crystallins (genetics)
• Gene Expression Regulation
• Haplotypes (genetics)
• Humans
• Molecular Sequence Data
• Polymorphism, Genetic
• Pseudogenes
• Sequence Alignment
• Sequence Homology, Nucleic Acid
• TATA Box