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The murine cataractogenic mutation, Cat Fraser, segregates independently of the gamma crystallin genes

Published online by Cambridge University Press:  14 April 2009

Jim L. Rupert ,
Maciek Kuliszewki ,
Lap-Chee Tsui ,
Martin L. Breitman  and
Reynold J. M. Gold
Jim L. Rupert
Affiliation:
Department of Medical Genetics, University of Toronto, Toronto, Ontario, CanadaM5S 1A8
Maciek Kuliszewki
Affiliation:
Department of Medical Genetics, University of Toronto, Toronto, Ontario, CanadaM5S 1A8
Lap-Chee Tsui
Affiliation:
Department of Medical Genetics, University of Toronto, Toronto, Ontario, CanadaM5S 1A8 Department of Genetics, The Hospital for Sick Children, Toronto, Ontario, CanadaM5G 1X8
Martin L. Breitman
Affiliation:
Department of Medical Genetics, University of Toronto, Toronto, Ontario, CanadaM5S 1A8 Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, M5G 1X5.
Reynold J. M. Gold
Affiliation:
Department of Medical Genetics, University of Toronto, Toronto, Ontario, CanadaM5S 1A8

Summary

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The murine mutation, Cat Fraser (CatFr), causes dominantly inherited ocular cataracts. Lenses of adult mice bearing this mutation contain reduced amounts of all seven γ-crystallin proteins and their corresponding transcripts. Levels of other lens proteins and transcripts appear normal and no extra-ocular effects of the mutation have been observed. The selective effect of this mutation on the γ-crystallins is consistent with the possibility that the site at which it occurs is involved in the coordinated regulation of the family of genes which encodes them. We have shown that several restriction fragment length polymorphisms in the γ-crystallin genes segregate independently of the CatFr mutation. Therefore, despite its selective effect on the expression of the γ-crystallin genes, the mutation is not linked to them. This observation rules out the possibility that the mutation is in a cis-acting regulatory site.

Type
Research Article
Information
Genetics Research , Volume 51 , Issue 1 , February 1988 , pp. 23 - 28
Copyright
Copyright © Cambridge University Press 1988

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