2000
The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a
Jones J, Huang J, Mermall V, Hamilton B, Mooseker M, Escayg A, Copeland N, Jenkins N, Meisler M. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Human Molecular Genetics 2000, 9: 821-828. PMID: 10749990, DOI: 10.1093/hmg/9.5.821.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBrainDNA, ComplementaryExonsFungal ProteinsGene DosageGenes, RecessiveGTP-Binding Protein beta SubunitsIntronsMiceMice, Inbred C57BLMice, Mutant StrainsMicroscopy, ElectronMolecular Sequence DataMonomeric GTP-Binding ProteinsMyosin Type IMyosinsPurkinje CellsRNA, MessengerSaccharomyces cerevisiae ProteinsConceptsN-terminal 83 amino acidsAmino acidsWild-type proteinGlobular tail domainNon-homologous recombinationSmooth endoplasmic reticulum vesiclesNovel hybrid geneDominant-negative mechanismExon shufflingChromosomal arrangementsMammalian mutationsNew genesNovel genesUnrelated genesEndoplasmic reticulum vesiclesTail domainHybrid geneMutational mechanismsTerminal exonIntracellular transportGenetic studiesGenesExonsProteinGNB5
1996
Molecular Cloning and Domain Structure of Human Myosin-VIIa, the Gene Product Defective in Usher Syndrome 1B
Chen Z, Hasson T, Kelley P, Schwender B, Schwartz M, Ramakrishnan M, Kimberling W, Mooseker M, Corey D. Molecular Cloning and Domain Structure of Human Myosin-VIIa, the Gene Product Defective in Usher Syndrome 1B. Genomics 1996, 36: 440-448. PMID: 8884267, DOI: 10.1006/geno.1996.0489.Peer-Reviewed Original ResearchConceptsUsher syndrome 1BIntestinal epithelium cell lineProgressive retinal degenerationEpithelium cell lineVestibular functionMyosin VIIaPigment epitheliumRetinal degenerationInner earReceptor cellsRT-PCRBand 4.1 familyRestricted expressionShort formCell linesMembrane-associated portionHuman myosin VIIaMolecular cloningLong transcriptsTestisShort transcriptsUnconventional myosinLong repeatsHigh abundanceAmino acidsHuman myosin-IXb, an unconventional myosin with a chimerin-like rho/rac GTPase-activating protein domain in its tail
Wirth J, Jensen K, Post P, Bement W, Mooseker M. Human myosin-IXb, an unconventional myosin with a chimerin-like rho/rac GTPase-activating protein domain in its tail. Journal Of Cell Science 1996, 109: 653-661. PMID: 8907710, DOI: 10.1242/jcs.109.3.653.Peer-Reviewed Original ResearchConceptsProtein domainsHL-60 cellsRho/Rac familyNovel N-terminal domainGTPase-activating protein (GAP) domainUnconventional myosin heavy chainRas-like G proteinsPrimary structurePutative actin-binding siteAmino acidsFull-length primary structureSkeletal muscle myosin IIN-terminal domainAmino acid extensionActin-binding siteProtein kinase CNorthern blot analysisMuscle myosin IIRac familyDifferent human tissuesUndifferentiated HL-60 cellsRegulatory domainPutative zincRac GTPaseCell periphery