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TRP Channel Functioning in Mating and Fertilization.

Editors

In: Liedtke WB, Heller S, editors.

Source

TRP Ion Channel Function in Sensory Transduction and Cellular Signaling Cascades. Boca Raton (FL): CRC Press/Taylor & Francis; 2007. Chapter 19.
Frontiers in Neuroscience.

Excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common monogenic diseases, affecting 1 in 400 to 1 in 1,000 individuals. In ADPKD patients, the kidney accumulates multiple cysts, which ultimately cause end-stage renal disease. Mutation in the PKD1 or PKD2 gene accounts for 95 percent of ADPKD cases [1, 2]. PKD1 encodes polycystin-1 (PC-1), a 4,302 amino acid protein with a large extracellular domain, a G-protein-coupled receptor proteolytic site (GPS), eleven transmembrane (TM) domains, and an intracellular C-terminus (Figure 19.1) [1, 3]. The polycystin/lipoxygenase/alpha-toxin (PLAT) domain is located in the first cytoplasmic loop between TM1 and TM2 and has been postulated to be involved in membrane–protein or protein–protein interactions [4]. The PLAT domain is conserved in all PC-1 family members and is also found in a variety of membrane-or lipid-associated proteins. Polycystin-2 (PC-2, encoded by PKD2) is a transient receptor protein polycystin (TRPP) family member [2] and acts as a nonselective cation channel (reviewed in reference [5]). Mammalian PC-1 and PC-2 have been demonstrated to localize to primary cilia of kidney epithelial cells [6, 7] where they function as a mechanosensitive channel [8]. ADPKD is one of a number of human genetic diseases that are rooted in defects in cilia formation, maintenance, or function [9, 10, 11].

Copyright © 2007, Taylor & Francis Group, LLC.

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