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Signal transduction

Mating, channels and kidney cysts

Nature volume 401, pages 339–340 (1999)Cite this article

Advances in human genetics have meant that the genes mutated in human diseases can be identified exclusively by their location in the genome. But how do we work out the cellular functions of the associated protein products? Reports on pages 383 and 386 of this issue1,2 begin to address this problem for two proteins — polycystin-1 (PKD1) and polycystin-2 (PKD2) — that are defective in human autosomal dominant polycystic kidney disease. From their studies of the nematode worm Caenorhabditis elegans, Barr and Sternberg2 present evidence that homologues of the polycystins act together in a signal-transduction pathway in sensory neurons. Chen et al.1, by contrast, have used an oocyte-expression system in the frog Xenopus laevis to show that a homologue of PKD2 is associated with the activity of a cation channel. These results support the hypothesis that polycystin-related proteins belong to a hitherto unknown class of signal-transduction molecules.

Autosomal dominant polycystic kidney disease affects more than one in 1,000 live births, and is the most common single-gene disorder leading to kidney failure. The children of affected parents have a one in two chance of inheriting the disease, and half of all sufferers need dialysis or a kidney transplant by the age of 60. Mutations in either PKD1 or PKD2 cause almost indistinguishable clinical symptoms. Although the kidney is the most severely affected organ, the disease is systemic and affects the liver, pancreas and cardio- and cerebro-vascular systems as well.

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Figure 1: Two components of the proposed polycystin signalling pathway.

References

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Authors and Affiliations

  1. Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, 10461, New York, USA

    Scott W. Emmons

  2. Section of Nephrology, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06520-8029, USA

    Stefan Somlo

Authors
  1. Scott W. Emmons
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  2. Stefan Somlo
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Emmons, S., Somlo, S. Mating, channels and kidney cysts. Nature 401, 339–340 (1999). https://doi.org/10.1038/43810

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