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Analysis of the Kit and Pdgfra genes in the patch-extended (Phe) mutation

Published online by Cambridge University Press:  01 December 1998

DENNIS A. STEPHENSON ,
EDWARD K. NOVAK  and
VERNE M. CHAPMAN
DENNIS A. STEPHENSON
Affiliation:
The Galton Laboratory, Department of Biology, University College London, 4 Stephenson Way, London NW1 2HE, UK Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263-0001, USA
EDWARD K. NOVAK
Affiliation:
Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263-0001, USA
VERNE M. CHAPMAN
Affiliation:
Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263-0001, USA
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Abstract

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The patch (Ph) locus allele, patch-extended (Phe), has significantly less pigmentation than the original mutation and homozygotes have been known to survive to term. Analysing inter-subspecific F1 hybrids, we were able to demonstrate that Phe is a deletional mutation encompassing the platelet-derived growth factor receptor alpha subunit (Pdgfra). The deletion does not appear to extend into the coding sequence of the Kit gene (a related tyrosine kinase receptor). However, we were able to demonstrate that, while the Kit gene is transcribed, it does not encode a functionally active receptor.

Information

Type
Research Article
Information
Genetics Research , Volume 72 , Issue 3 , December 1998 , pp. 205 - 210
Copyright
© 1998 Cambridge University Press

Footnotes

Dedicated to Bruce Cattanach on the occasion of his retirement as director of the MRC Mammalian Genetics Unit. Bruce, as Jean-Louis Guénet put it, was part of a unique group of scientists at Harwell, who not only made a substantial contribution to our understanding of genetics, but was more than willing to share resources with the community at large. Like Verne, Bruce was known to have just the right mutant mouse to answer the burning genetic issues. A true gentleman and friend.