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.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Qian, F., Watnick, T.J., Onuchic, L.F. & Germino, G.G. Cell 87, 979–987 (1996).
Watnick, T.J. et al. Mol. Cell 2, 247–251 (1998).
Koptides, M., Hadjimichael, C., Koupepidou, P., Pierides, A. & Deltas, C.C. Hum. Mol. Genet. 8, 509–513 (1999).
Pei, Y. et al. J. Am. Soc. Nephrol. 10, 1524–1529 (1999).
Lu, W. et al. Nature Genet. 17, 179–181 (1997).
Wu, G. et al. Cell 93, 177–188 (1998).
Geng, L. et al. J. Clin. Invest. 98, 2674–2682 (1996).
Ong, A.C. et al. Am. J. Pathol. 154, 1721–1729 (1999).
Ong, A.C. & Harris, P.C. Lancet 349, 1039–1040 (1997).
Pei, Y. et al. J. Am. Soc. Nephrol. 9, 1852–1860 (1998).
Torra, R. et al. Kidney Int. 56, 28–33 (1999).
Qian, F. et al. Nature Genet. 16, 179–183 (1997).
Watnick, T.J. et al. Hum. Mol. Genet. 6, 1473–1481 (1997).
Watnick, T.J. et al. Am. J. Hum. Genet. 65, 1561–1571 (1999).
Koptides, M., Mean, R., Demetriou, K., Pierides, A. & Deltas, C.C. Hum. Mol. Genet. 12, 447–452 (2000).
Acknowledgements
We thank the individuals with ADPKD and their families for participation. This work was supported by the NIH (DK48006, DK02562), the Polycystic Kidney Disease Research Foundation and the Kidney Foundation of Canada. G.G.G. is the Irving Blum Scholar of the Johns Hopkins University School of Medicine.
Author information
Authors and Affiliations
Corresponding authors
Rights and permissions
About this article
Cite this article
Watnick, T., He, N., Wang, K. et al. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. Nat Genet 25, 143–144 (2000). https://doi.org/10.1038/75981
Issue Date:
DOI: https://doi.org/10.1038/75981
This article is cited by
-
Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels
Nature Communications (2018)
-
Polycystic kidney disease
Nature Reviews Disease Primers (2018)
-
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes
European Journal of Human Genetics (2016)
-
A polycystin-centric view of cyst formation and disease: the polycystins revisited
Kidney International (2015)
-
Translational research in ADPKD: lessons from animal models
Nature Reviews Nephrology (2014)