1999
Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells
Aguiari G, Manzati E, Penolazzi L, Micheletti F, Augello G, De Vitali E, Cappelli G, Cai Y, Reynolds D, Somlo S, Piva R, del Senno L. Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells. American Journal Of Kidney Diseases 1999, 33: 880-885. PMID: 10213643, DOI: 10.1016/s0272-6386(99)70420-8.Peer-Reviewed Original ResearchConceptsPolycystic kidney disease 2 (PKD2) geneMembrane-spanning domainsIntegral membrane proteinsLymphoblastoid cellsFirst extracellular loopAutosomal dominant polycystic kidney diseasePKD2 proteinMembrane proteinsRestriction enzyme analysisCommon genetic diseaseLymphoblastoid cell linesProtein productsMutant allelesExtracellular loopWestern blot analysisPKD2 genePolymerase chain reactionGenetic diseasesNormal proteinAmino acidsMessenger RNA levelsNonsense mutationFrameshift mutationGenesProtein
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