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
1988
Sequence analysis of mouse tyrosinase cDNA and the effect of melanotropin on its gene expression
Kwon B, Wakulchik M, Haq A, Halaban R, Kestler D. Sequence analysis of mouse tyrosinase cDNA and the effect of melanotropin on its gene expression. Biochemical And Biophysical Research Communications 1988, 153: 1301-1309. PMID: 3134020, DOI: 10.1016/s0006-291x(88)81370-6.Peer-Reviewed Original ResearchConceptsAmino acid sequenceAcid sequenceTyrosinase cDNAPotential N-glycosylation sitesMouse genomic cloneHistidine-rich regionMouse tyrosinase geneN-glycosylation sitesLevels of transcriptsCopper-binding siteMouse tyrosinase cDNADeduced proteinGenomic clonesTransmembrane sequenceHuman tyrosinase cDNACDNA clonesMouse tyrosinaseTyrosinase geneGene expressionSequence analysisAmino acidsHuman tyrosinaseClonesCDNAMelanoma cells