1997
Characterization of the Exon Structure of the Polycystic Kidney Disease 2 Gene (PKD2)
Hayashi T, Mochizuki T, Reynolds D, Wu G, Cai Y, Somlo S. Characterization of the Exon Structure of the Polycystic Kidney Disease 2 Gene (PKD2). Genomics 1997, 44: 131-136. PMID: 9286709, DOI: 10.1006/geno.1997.4851.Peer-Reviewed Original ResearchConceptsAG/GT rulePolycystic kidney disease 2 (PKD2) geneExon-intron structureIntegral membrane proteinsAutosomal dominant polycystic kidney diseaseTranslation start siteExon structurePositional cloningMembrane proteinsStart siteGenomic DNASplice acceptorPKD2 geneGenesExon 1Oligonucleotide primersHeteroduplex analysisPKD2Dominant polycystic kidney diseasePolycystic kidney diseaseMutation analysisCalcium channelsCloningSecond formExons
1996
PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
Mochizuki T, Wu G, Hayashi T, Xenophontos S, Veldhuisen B, Saris J, Reynolds D, Cai Y, Gabow P, Pierides A, Kimberling W, Breuning M, Deltas C, Peters D, Somlo S. PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein. Science 1996, 272: 1339-1342. PMID: 8650545, DOI: 10.1126/science.272.5266.1339.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceCaenorhabditis elegansCalcium ChannelsChromosome MappingChromosomes, Human, Pair 4Cloning, MolecularConsensus SequenceCrystallography, X-RayFemaleGlycosylationHumansMaleMembrane ProteinsMolecular Sequence DataMutationPedigreePhenotypePolycystic Kidney, Autosomal DominantPolymorphism, Single-Stranded ConformationalProteinsSodium ChannelsTRPP Cation ChannelsConceptsCaenorhabditis elegans homologIntegral membrane proteinsAmino acid similarityPKD2 gene productCalcium-binding domainPKD2 proteinTransmembrane spansPolycystic kidney diseasePositional cloningPotential calcium-binding domainsSecond geneMembrane proteinsGene productsAcid sequenceIntracellular aminoNonsense mutationGenesAutosomal dominant polycystic kidney diseasePKD1Dominant polycystic kidney diseasePKD2 familiesProteinVoltage-activated calcium channelsHomologCalcium channels