Functional characterization of the pkd1 gene product

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Project objective

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently results in renal failure. The gene for ADPKD1 mapped on chromosome 16pl3.3 has recently been isolated and sequenced. The predicted PKD1 gene product (polycystin) is a protein with multiple domains that indicate that most of the protein is extracellular. The protein is likely to function in cell/cell or cell/matrix interactions. A putative C terminal part of the protein may be involved in signal transduction. The identification of proteins interacting with the polycystin would provide a better understanding of epithelial differentiation and/or its maintenance. We will adress the question of proteins interacting with the putative cytoplasmic tail in signal transdution by using the two-hybrid system. The second aim of this proposal is to distinguish between a dominant negative effect of a mutant Pkdl protein and haploinsufficiency due to inactivation of one allele, as the cause of the disease. This will be done by expression of normal and mutant Pkdl proteins in MDCK cells.

Original text from CORDIS.

Participants

• Aristotle University of Thessaloniki · ThessalonikiCoordinatorGreece

Links

• View on CORDIS