Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations

Nat Genet. 2000 Jun;25(2):143-4. doi: 10.1038/75981.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Clone Cells
  • DNA Mutational Analysis
  • Exons / genetics
  • Germ-Line Mutation / genetics
  • Heterozygote*
  • Humans
  • Loss of Heterozygosity / genetics
  • Membrane Proteins / genetics
  • Mutation / genetics*
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Polycystic Kidney, Autosomal Dominant / pathology*
  • Polymorphism, Single Nucleotide / genetics
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • TRPP Cation Channels


  • Membrane Proteins
  • Proteins
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein
  • polycystic kidney disease 2 protein