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Genetics, Vol. 148, 1951-1961, April 1998, Copyright © 1998

Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Head Region Mutations

Jian-Dong Huanga, M. Jamie T. V. Copeb, Valerie Mermallc, Marjorie C. Strobela, John Kendrick-Jonesb, Liane B. Russellf, Mark S. Moosekerc,d,e, Neal G. Copelanda, and Nancy A. Jenkinsa
a ABL-Basic Research Program, National Cancer Institute-Frederick Cancer Research and Development Center, Frederick, Maryland 21702,
b MRC Laboratory of Molecular Biology, Hills Road, Cambridge CB2 2QH, United Kingdom,
c Department of Biology, Yale University, New Haven, Connecticut 06520,
d Department of Pathology, Yale University, New Haven, Connecticut 06520,
e Department of Cell Biology, Yale University, New Haven, Connecticut 06520,
f Biology Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831

Corresponding author: Nancy A. Jenkins, ABL-Basic Research Program, P.O. Box B, Bldg. 539, Frederick, MD 21702-1201. Email: jenkins@ncifcrf.gov.

Communicating editor: C. KOZAK

The mouse dilute (d) locus encodes unconventional myosin-VA (MyoVA). Mice carrying null alleles of dilute have a lightened coat color and die from a neurological disorder resembling ataxia and opisthotonus within three weeks of birth. Immunological and ultrastructural studies suggest that MyoVA is involved in the transport of melanosomes in melanocytes and smooth endoplasmic reticulum in cerebellar Purkinje cells. In studies described here, we have used an RT-PCR-based sequencing approach to identify the mutations responsible for 17 viable dilute alleles that vary in their effects on coat color and the nervous system. Seven of these mutations mapped to the MyoVA motor domain and are reported here. Crystallographic modeling and mutant expression studies were used to predict how these mutations might affect motor domain function and to attempt to correlate these effects with the mutant phenotype.




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