title: 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.affiliation: Department of Molecular and Cellular Biology, University of Nijmegen, Toernooiveld, The Netherlands.
authors.forename: R H
authors.initials: RH
authors.lastname: Brakenhoff
authors.forename: H A
authors.initials: HA
authors.lastname: Henskens
authors.forename: M W
authors.initials: MW
authors.lastname: van Rossum
authors.forename: N H
authors.initials: NH
authors.lastname: Lubsen
authors.forename: J G
authors.initials: JG
authors.lastname: Schoenmakers
mesh_terms: D001483:Base Sequence; D002386:Cataract / Q000235:genetics*; D003459:Crystallins / Q000235:genetics*; D005786:Gene Expression Regulation; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011544:Pseudogenes; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D016385:TATA Box
chemical_list: D003459:Crystallins