Molecular genetic dissection of mouse unconventional myosin-VA: Head region mutations

Jian Dong Huang, M. Jamie T V Cope, Valerie Mermall, Marjorie C. Strobel, John Kendrick-Jones, Liane B. Russell, Mark S. Mooseker, Neal G. Copeland, Nancy A. Jenkins

Research output: Contribution to journalArticlepeer-review

50 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1951-1961
Number of pages11
JournalGenetics
Volume148
Issue number4
StatePublished - Apr 1998

ASJC Scopus subject areas

  • Genetics

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