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Published on: September 1, 2015
Feline polycystic kidney disease is linked to the PKD1 region
Amy E Young1, David S Biller, Eric J Herrgesell
1Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, 1114 Tupper Hall, Davis, California, 95616, USA, lalyons@ucdavis.edu.
Insights
Polycystic kidney disease (PKD) in Persian cats is linked to the PKD1 gene region on Chromosome E3. This finding may help feline health and offer insights into human autosomal dominant PKD.
Area of Science:
- Genetics
- Comparative genomics
- Animal disease research
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited kidney disorder in humans, caused by mutations in PKD1 or PKD2 genes.
- Polycystic kidney disease (PKD) is the most prevalent inherited disease in Persian cats, affecting 38% of the population, with symptoms similar to human ADPKD.
- The specific gene responsible for feline PKD has not yet been identified.
Purpose of the Study:
- To identify the causative gene for autosomal dominant polycystic kidney disease (ADPKD) in Persian cats.
- To investigate the genetic homology between feline and human PKD genes.
- To establish a genetic marker for feline PKD diagnosis.
Main Methods:
- Selection of 43 microsatellite markers from feline genetic maps based on homology with human chromosomal regions containing PKD1, PKD2, PKHD1, and Nek8 genes.
- Linkage analysis was performed using seven Persian cat pedigrees segregating for PKD.
- Significant linkage was found between the feline PKD phenotype and marker FCA476 on Chromosome E3.
Main Results:
- Significant linkage (Z=5.83, theta=0) was observed between the PKD disease phenotype and marker FCA476.
- Marker FCA476 is located within 10 centiRays (cR) of the feline PKD1 gene on Chromosome E3.
- No recombinants were detected between the disease phenotype and marker FCA476.
Conclusions:
- The PKD1 gene or another gene in its vicinity on Chromosome E3 is likely responsible for feline PKD.
- This genetic linkage provides a valuable tool for understanding and potentially diagnosing feline PKD.
- Further research can illuminate the mechanisms of feline PKD and offer insights into human ADPKD.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is a commonly inherited disorder (1/1000) in humans characterized by fluid-filled cysts in the kidneys. Defects in the PKD genes, PKD1 and PKD2, cause 85% and 15% of human ADPKD cases, respectively. Mutations in the PKHD1 gene cause autosomal recessive PKD (ARPKD). Mutations in several genes, including Nek8, cause PKD in mice. Although PKD affects 38% of Persian cats worldwide, making it the most prominent inherited feline disease, a causative gene has not been identified. Feline PKD is an autosomal dominant disease with clinical presentations similar to human ADPKD. Forty-three microsatellites were chosen from the feline genetic maps based on known homology with human chromosomal regions containing the PKD1, PKD2, PKHD1, and Nek8 genes. Linkage analysis using seven Persian cat pedigrees segregating for PKD has shown significant linkage and no recombinants (Z=5.83, theta=0) between the PKD disease phenotype and marker FCA476, which is within 10 cR of the feline PKD1 gene on Chromosome E3. This suggests that the PKD1 gene or another gene within this region may cause feline PKD. Further investigation into the cause of PKD will be valuable for feline health and provide insights into human ADPKD.
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