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

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

Research output: Contribution to journalArticle

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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
StatePublished - Aug 1998

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Autosomal Dominant Polycystic Kidney
Cysts
Mutation
Liver
Kidney
Inborn Genetic Diseases
Germ-Line Mutation
Renal Insufficiency
Pancreas
Alleles
Genes

ASJC Scopus subject areas

  • Molecular Biology

Cite this

Watnick, T. J., Torres, V., Gandolph, M. A., Qian, F., Onuchic, L. F., Klinger, K. W., ... Germino, G. G. (1998). Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Molecular Cell, 2(2), 247-251.

Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. / Watnick, Terry J.; Torres, Vicente; Gandolph, Michael A.; Qian, Feng; Onuchic, Luiz F.; Klinger, Katherine W.; Landes, Gregory; Germino, Gregory G.

In: Molecular Cell, Vol. 2, No. 2, 08.1998, p. 247-251.

Research output: Contribution to journalArticle

Watnick, TJ, Torres, V, Gandolph, MA, Qian, F, Onuchic, LF, Klinger, KW, Landes, G & Germino, GG 1998, 'Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease', Molecular Cell, vol. 2, no. 2, pp. 247-251.
Watnick, Terry J. ; Torres, Vicente ; Gandolph, Michael A. ; Qian, Feng ; Onuchic, Luiz F. ; Klinger, Katherine W. ; Landes, Gregory ; Germino, Gregory G. / Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. In: Molecular Cell. 1998 ; Vol. 2, No. 2. pp. 247-251.
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