2002
Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development
Chauvet V, Qian F, Boute N, Cai Y, Phakdeekitacharoen B, Onuchic LF, Attié-Bitach T, Guicharnaud L, Devuyst O, Germino GG, Gubler MC. Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development. American Journal Of Pathology 2002, 160: 973-983. PMID: 11891195, PMCID: PMC1867156, DOI: 10.1016/s0002-9440(10)64919-x.Peer-Reviewed Original ResearchConceptsPolycystin-1Kidney developmentPolycystin-2Expression patternsPKD1 expressionHuman genetic disordersLarge transmembrane proteinCell-matrix interactionsNormal kidney developmentMutations of PKD1Expression of PKD1Northern blot analysisGenes decreasesTransmembrane proteinHuman embryogenesisEndodermal derivativesSpatiotemporal expressionUreteric budPKD1 transcriptPKD2Transmembrane glycoproteinTranscriptsPKD1Nephron developmentProtein
2000
Cardiac defects and renal failure in mice with targeted mutations in Pkd2
Wu G, Markowitz G, Li L, D'Agati V, Factor S, Geng L, Tibara S, Tuchman J, Cai Y, Hoon Park J, van Adelsberg J, Hou H, Kucherlapati R, Edelmann W, Somlo S. Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nature Genetics 2000, 24: 75-78. PMID: 10615132, DOI: 10.1038/71724.Peer-Reviewed Original ResearchConceptsPolycystin-2True null mutationEmbryonic day 13.5Liver cyst formationSomatic rearrangementsNull mutationNull allelesProtein productsUnstable alleleTargeted mutationsPKD2Cardiac septationCyst formationRenal failureDay 13.5MutationsADPKD phenotypeKidney cystsAllelesLong-term survivalFirst indicationDeleterious effectsCalcium channelsMouse modelClinical manifestations
1999
The rat Pkd2 protein assumes distinct subcellular distributions in different organs
Obermüller N, Gallagher A, Cai Y, Gassler N, Gretz N, Somlo S, Witzgall R. The rat Pkd2 protein assumes distinct subcellular distributions in different organs. American Journal Of Physiology 1999, 277: f914-f925. PMID: 10600939, DOI: 10.1152/ajprenal.1999.277.6.f914.Peer-Reviewed Original ResearchConceptsPKD2 proteinDifferent cellular compartmentsDistinct subcellular distributionCellular compartmentsBasolateral distributionExpression patternsCytoplasmic locationSubcellular distributionPKD2 geneWidespread expressionCellular distributionAdrenal glandProteinSmooth muscle cellsSalivary glandsMuscle cellsPKD2Autosomal dominant polycystic kidney diseasePolycystic kidney diseaseDifferent organsRenal distal tubulesMutationsIndividual organsDifferent rat organsPKD2 mutations
1998
Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease
Wu G, D'Agati V, Cai Y, Markowitz G, Park J, Reynolds D, Maeda Y, Le T, Hou H, Kucherlapati R, Edelmann W, Somlo S. Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease. Cell 1998, 93: 177-188. PMID: 9568711, DOI: 10.1016/s0092-8674(00)81570-6.Peer-Reviewed Original ResearchConceptsCellular recessive mechanismIntragenic homologous recombinationExon 1True null alleleMutant exon 1Somatic inactivationPkd2 resultsRenal cyst formationPKD2 proteinPolycystic kidney diseaseHomologous recombinationNull allelesHuman phenotypesPKD2 expressionUnstable alleleSomatic lossPKD2Autosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseMutationsGermline mutationsRecessive mechanismAllelesInactivationCyst formation
1997
Molecular Cloning, cDNA Sequence Analysis, and Chromosomal Localization of MousePkd2
Wu G, Mochizuki T, Le T, Cai Y, Hayashi T, Reynolds D, Somlo S. Molecular Cloning, cDNA Sequence Analysis, and Chromosomal Localization of MousePkd2. Genomics 1997, 45: 220-223. PMID: 9339380, DOI: 10.1006/geno.1997.4920.Peer-Reviewed Original ResearchConceptsCDNA sequenceIntegral membrane proteinsMembrane-spanning domainsCDNA sequence analysisAmino acid levelsGenomic localizationPKD2 mRNAChromosomal localizationMembrane proteinsMolecular cloningMouse mutationMurine homologueExpression analysisCandidate genesChromosome 5Sequence analysisMouse tissuesKidney phenotypePKD2CloningPolycystic kidney phenotypeGenesAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseasePolycystic kidney diseaseCharacterization 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 formExonsPKD1 interacts with PKD2 through a probable coiled-coil domain
Qian F, Germino F, Cai Y, Zhang X, Somlo S, Germino G. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nature Genetics 1997, 16: 179-183. PMID: 9171830, DOI: 10.1038/ng0697-179.Peer-Reviewed Original ResearchConceptsCoiled-coil domainC-terminusPKD1 gene productAutosomal dominant polycystic kidney diseaseSite-specific mutagenesisLarge cystic kidneysGene productsHomotypic interactionsTubular morphogenesisStructural basisHeterotypic interactionsPKD2TerminusRecent discoveryPathogenic mutationsDominant polycystic kidney diseasePKD1Cystic kidneysPolycystic kidney diseaseCommon pathwayAffected individualsMorphogenesisPolycystinsMutagenesisGenes