Human-Specific Abnormal Alternative Splicing of Wild-Type PKD1 Induces Premature Termination of Polycystin-1.

Wendy A LeaStephen C ParnellDarren P WallaceJames P CalvetLesya V ZelenchukNehemiah S AlvarezChristopher J Ward

Published in: Journal of the American Society of Nephrology : JASN (2018)

The presence of polypyrimidine tracts decreases levels of full-length PKD1 mRNA from normal alleles. In heterozygous individuals, low levels of full-length PC1 may reduce polycystin signaling below a critical "cystogenic" threshold.

Keyphrases

wild type
polycystic kidney disease
endothelial cells
early onset