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Pigmentation and lysosome function in mice homozygous for both pale ear and Beige-J pigment genes

Published online by Cambridge University Press:  14 April 2009

Edward K. Novak ,
Richard T. Swank  and
Miriam H. Meisler
Edward K. Novak
Affiliation:
Department of Molecular Biology, Roswell Park Memorial Institute, 666 Elm Street, Buffalo, N.Y. 14263
Richard T. Swank
Affiliation:
Department of Molecular Biology, Roswell Park Memorial Institute, 666 Elm Street, Buffalo, N.Y. 14263
Miriam H. Meisler
Affiliation:
Department of Human Genetics, The University of Michigan, 1137 East Catherine Street, Ann Arbor, Michigan 48109
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We have examined mice doubly homozygous for both pale ear (ep/ep) and beige (bgJ/bgJ) mutations in order to detect genetic interactions between these 2 loci affecting pigmentation and lysosome physiology. The doubly homozygous mouse has a new pigmentation phenotype consistent with independent effects of ep and bg. The beige (Brandt, Elliott & Swank, 1975) and pale ear (Novak & Swank, 1979)genes have abnormal kidney lysosomal enzyme accumulation caused by defective secretion into urine. No cumulative effect on these functions was observed in the new double mutant phenotype. The new phenotype has giant lysosomes typical of the beige mutation. Unexpectedly, the beige gene corrects the effect of the pale ear on serum lysosomal enzyme concentration. There is also a gene dosage effect of the beige gene on this serum lysosomal enzyme phenotype. The results suggest that the beige and pale ear genes affect the same pathway(s) of lysosome biosynthesis and/or processing. The action of the beige gene may precede that of the pale ear gene in lysosome physiology.

Type
Research Article
Information
Genetics Research , Volume 35 , Issue 2 , April 1980 , pp. 195 - 204
Copyright
Copyright © Cambridge University Press 1980

References

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