title: Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.
abstract: Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2. The products of these genes associate to form heteromeric complexes. Several models have been proposed to explain the mechanism of cyst formation. Here we find somatic mutations of PKD2 in 71% of ADPKD2 cysts analysed. Clonal somatic mutations of PKD1 were identified in a subset of cysts that lacked PKD2 mutations.
authors.affiliation: [1] Department of Medicine, Division of Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: T
authors.initials: T
authors.lastname: Watnick
authors.forename: N
authors.initials: N
authors.lastname: He
authors.forename: K
authors.initials: K
authors.lastname: Wang
authors.forename: Y
authors.initials: Y
authors.lastname: Liang
authors.forename: P
authors.initials: P
authors.lastname: Parfrey
authors.forename: D
authors.initials: D
authors.lastname: Hefferton
authors.forename: P
authors.initials: P
authors.lastname: St George-Hyslop
authors.forename: G
authors.initials: G
authors.lastname: Germino
authors.forename: Y
authors.initials: Y
authors.lastname: Pei
mesh_terms: D001483:Base Sequence; D002999:Clone Cells; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics* / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D050396:TRPP Cation Channels
chemical_list: D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels