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

TitleMolecular genetic dissection of mouse unconventional myosin-VA: Head region mutations
Authors
Issue Date1998
PublisherGenetics Society of America. The Journal's web site is located at http://www.genetics.org/contents-by-date.0.shtml
Citation
Genetics, 1998, v. 148 n. 4, p. 1951-1961 How to Cite?
AbstractThe 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.
Persistent Identifierhttp://hdl.handle.net/10722/147430
ISSN
2015 Impact Factor: 4.644
2015 SCImago Journal Rankings: 4.270
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHuang, JDen_US
dc.contributor.authorCope, MJTVen_US
dc.contributor.authorMermall, Ven_US
dc.contributor.authorStrobel, MCen_US
dc.contributor.authorKendrickJones, Jen_US
dc.contributor.authorRussell, LBen_US
dc.contributor.authorMooseker, MSen_US
dc.contributor.authorCopeland, NGen_US
dc.contributor.authorJenkins, NAen_US
dc.date.accessioned2012-05-29T06:03:40Z-
dc.date.available2012-05-29T06:03:40Z-
dc.date.issued1998en_US
dc.identifier.citationGenetics, 1998, v. 148 n. 4, p. 1951-1961en_US
dc.identifier.issn0016-6731en_US
dc.identifier.urihttp://hdl.handle.net/10722/147430-
dc.description.abstractThe 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.en_US
dc.languageengen_US
dc.publisherGenetics Society of America. The Journal's web site is located at http://www.genetics.org/contents-by-date.0.shtmlen_US
dc.relation.ispartofGeneticsen_US
dc.subject.meshAllelesen_US
dc.subject.meshAnimalsen_US
dc.subject.meshCrystallography, X-Rayen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Expressionen_US
dc.subject.meshHair Color - Geneticsen_US
dc.subject.meshIntermediate Filament Proteins - Chemistry - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMiceen_US
dc.subject.meshModels, Molecularen_US
dc.subject.meshMutagenesisen_US
dc.subject.meshMyosin Heavy Chainsen_US
dc.subject.meshMyosin Type Ven_US
dc.titleMolecular genetic dissection of mouse unconventional myosin-VA: Head region mutationsen_US
dc.typeArticleen_US
dc.identifier.emailHuang, JD:jdhuang@hkucc.hku.hken_US
dc.identifier.authorityHuang, JD=rp00451en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid9560408-
dc.identifier.scopuseid_2-s2.0-0031893562en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031893562&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume148en_US
dc.identifier.issue4en_US
dc.identifier.spage1951en_US
dc.identifier.epage1961en_US
dc.identifier.isiWOS:000073187000053-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridHuang, JD=8108660600en_US
dc.identifier.scopusauthoridCope, MJTV=16419024900en_US
dc.identifier.scopusauthoridMermall, V=6602545621en_US
dc.identifier.scopusauthoridStrobel, MC=7103301364en_US
dc.identifier.scopusauthoridKendrickJones, J=7005388603en_US
dc.identifier.scopusauthoridRussell, LB=7202252250en_US
dc.identifier.scopusauthoridMooseker, MS=7006520381en_US
dc.identifier.scopusauthoridCopeland, NG=35374759300en_US
dc.identifier.scopusauthoridJenkins, NA=35379887700en_US

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