1995
Mouse silver. mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17
Kwon B, Halaban R, Ponnazhagan S, Kim K, Chintamaneni C, Bennett D, Pickard R. Mouse silver. mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17. Nucleic Acids Research 1995, 23: 154-158. PMID: 7870580, PMCID: PMC306643, DOI: 10.1093/nar/23.1.154.Peer-Reviewed Original ResearchConceptsPmel 17CDNA clonesMelanocyte cDNA libraryPutative cytoplasmic tailPutative cytoplasmic domainAmino acidsMouse chromosome 10Coat color locusSingle nucleotide insertionSilver locusSingle base insertionChromosomal locationGenomic regionsCytoplasmic domainTermination signalCytoplasmic tailCDNA libraryReading frameSI allelesColor locusCarboxyl terminusC-terminusChromosome 10Nucleotide insertionBase insertion
1993
Molecular analyses of a tyrosinase-negative albino family.
Park K, Chintamaneni C, Halaban R, Witkop C, Kwon B. Molecular analyses of a tyrosinase-negative albino family. American Journal Of Human Genetics 1993, 52: 406-13. PMID: 8430701, PMCID: PMC1682201.Peer-Reviewed Original ResearchMeSH KeywordsAlbinism, OculocutaneousBase SequenceBlotting, NorthernBlotting, SouthernChildDNA Mutational AnalysisElectrophoresis, Polyacrylamide GelFemaleFrameshift MutationGene LibraryGlycosylationHumansMaleMelanocytesMolecular Sequence DataMonophenol MonooxygenaseMutationPedigreePoint MutationPolymerase Chain ReactionPrecipitin TestsSequence DeletionConceptsAmino acid changesAcid changesPutative amino acid changesPremature termination signalTwo-nucleotide deletionSingle base substitutionTermination signalGel electrophoretic analysisN-glycosylationCDNA libraryBase pair deletionCodon 355Genomic DNAHomologous allelesNucleotide substitutionsSequence analysisMolecular analysisMissense mutationsTwo-base deletionExon 1Electrophoretic analysisCodon 226Exon 3AllelesTyrosinase-negative oculocutaneous albinism
1989
Molecular basis of mouse Himalayan mutation
Kwon B, Halaban R, Chintamaneni C. Molecular basis of mouse Himalayan mutation. Biochemical And Biophysical Research Communications 1989, 161: 252-260. PMID: 2567165, DOI: 10.1016/0006-291x(89)91588-x.Peer-Reviewed Original ResearchConceptsAmino acid 420Histidine residuesAmino acidsTemperature-sensitive tyrosinaseCDNA libraryHimalayan miceMouse tyrosinaseInteresting mutantsNucleotide sequenceB proteinMolecular basisTyrosinase geneTyrosinase cDNAArginine residuesTyrosinase moleculesHuman tyrosinaseG changeResiduesMutationsTyrosinaseMutantsCDNAGenesMiceTyrosinase inhibitors
1987
A melanocyte-specific complementary DNA clone whose expression is inducible by melanotropin and isobutylmethyl xanthine.
Kwon B, Halaban R, Kim G, Usack L, Pomerantz S, Haq A. A melanocyte-specific complementary DNA clone whose expression is inducible by melanotropin and isobutylmethyl xanthine. Molecular Biology & Medicine 1987, 4: 339-55. PMID: 2449595.Peer-Reviewed Original ResearchMeSH Keywords1-Methyl-3-isobutylxanthineAnimalsAntibodies, MonoclonalCatechol OxidaseDNAGene Expression RegulationGlycoproteinsHumansMelaninsMelanocytesMelanocyte-Stimulating HormonesMelanomaMelanoma, ExperimentalMiceMonophenol MonooxygenaseNeoplasm ProteinsPigmentationSpecies SpecificityTheophyllineTumor Cells, CulturedConceptsPmel 17CDNA clonesLambda gt11 cDNA libraryComplementary DNA cloneHuman tyrosinase geneNormal human melanocytesSingle geneDNA clonesCDNA libraryStimulation of humanMRNA speciesTyrosinase geneMurine melanocytesMurine DNAMurine melanoma cellsRestriction fragmentsHuman melanocytesRepresentative clonesGenesClonesImmunological homologyCDNAMelanoma cellsMelanocytesSpeciesIsolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.
Kwon BS, Haq AK, Pomerantz SH, Halaban R. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. Proceedings Of The National Academy Of Sciences Of The United States Of America 1987, 84: 7473-7477. PMID: 2823263, PMCID: PMC299318, DOI: 10.1073/pnas.84.21.7473.Peer-Reviewed Original ResearchConceptsCDNA clonesMelanocyte cDNA libraryRelated mRNA speciesHuman tyrosinaseAmino acid sequenceSouthern blot analysisStructural geneCDNA libraryNucleotide sequenceMRNA speciesAcid sequenceGlycosylation sitesCDNA insertDeletion mutationsCell typesAmino acidsCopper bindingBlot analysisClonesMalignant melanocytesLociSequenceTyrosinaseApproximate lengthKilobases