Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease

Terry J. Watnick, Vicente E. Torres, Michael A. Gandolph, Feng Qian, Luiz F. Onuchic, Katherine W. Klinger, Gregory Landes, Gregory G. Germino

Research output: Contribution to journalArticle

143 Scopus citations

Abstract

Autosomal dominant polycystic kidney disease (ADPKD), Type I is a common genetic disorder and an important cause of renal failure. The disease is characterized by progressive cyst formation in a variety of organs including the kidney, liver and pancreas. We have previously shown that in the case of PKD1, renal cyst development is likely to require somatic inactivation of the normal allele coupled to a germline PKD1 mutation. In this report, we have used unique reagents to show that intragenic, somatic mutations are common in hepatic cysts. All pathogenic mutations were shown to have altered the previously normal copy of the gene. These data extend the "two-hit" model of cystogenesis to include a second focal manifestation of the disease.

Original languageEnglish (US)
Pages (from-to)247-251
Number of pages5
JournalMolecular Cell
Volume2
Issue number2
DOIs
StatePublished - Aug 1998

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

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