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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.
R H Brakenhoff, and
H A Henskens, and
M W van Rossum, and
N H Lubsen, and
J G Schoenmakers
January 2013,
Molecular vision,
R H Brakenhoff, and
H A Henskens, and
M W van Rossum, and
N H Lubsen, and
J G Schoenmakers
January 1987,
Proceedings of the National Academy of Sciences of the United States of America,
R H Brakenhoff, and
H A Henskens, and
M W van Rossum, and
N H Lubsen, and
J G Schoenmakers
January 2000,
Investigative ophthalmology & visual science,
R H Brakenhoff, and
H A Henskens, and
M W van Rossum, and
N H Lubsen, and
J G Schoenmakers
August 1991,
Gene,
R H Brakenhoff, and
H A Henskens, and
M W van Rossum, and
N H Lubsen, and
J G Schoenmakers
June 2016,
Protein science : a publication of the Protein Society,
R H Brakenhoff, and
H A Henskens, and
M W van Rossum, and
N H Lubsen, and
J G Schoenmakers
May 1992,
Experimental eye research,
R H Brakenhoff, and
H A Henskens, and
M W van Rossum, and
N H Lubsen, and
J G Schoenmakers
January 1910,
Proceedings of the Royal Society of Medicine,
R H Brakenhoff, and
H A Henskens, and
M W van Rossum, and
N H Lubsen, and
J G Schoenmakers
May 2005,
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences,
R H Brakenhoff, and
H A Henskens, and
M W van Rossum, and
N H Lubsen, and
J G Schoenmakers
January 2016,
Molecular vision,
R H Brakenhoff, and
H A Henskens, and
M W van Rossum, and
N H Lubsen, and
J G Schoenmakers
January 1981,
Biochemical and biophysical research communications,
