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Kidney Week

Abstract: FR-PO730

Early Cyst Initiation Transcriptional Changes in a Novel Porcine Model of Autosomal Dominant Polycystic Kidney Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1001 Genetic Diseases of the Kidneys: Cystic


  • Willig, Laurel K., Children's Mercy Hospital, Kansas City, Missouri, United States
  • Rogers, Christopher S., Exemplar Genetics, Coralville, Iowa, United States
  • Johnston, Jeffrey, Children''s Mercy Hospital, Kansas CIty, Missouri, United States
  • Pastinen, Tomi, Children''s Mercy Kansas City, Kansas City, Missouri, United States
  • Wallace, Darren P., University of Kansas Medical Center, Kansas City, Kansas, United States

Autosomal dominant polycystic kidney disease (ADPKD), the most common genetic renal disease leading to renal failure in adulthood, starts in utero. However, most studies of transcriptional changes have been done either in late human disease or in mouse models that do not mimic the autosomal dominant pattern (AD) of genetic disease in humans. In this early study, we examine the feasibility of single cell RNA-seq (scRNA-seq) to identify transcriptional changes in specific cells types in an AD porcine PKD1 model.


We characterized 1928 cells from a wildtype littermate and 3702 cells from two PKD1 +/- littermates using unbiased scRNA-seq. We determined cell identity by performing differential gene expression analysis using the Seurat package, creating principle component analysis (PCA) and t-Distributed Stochastic Neighbor Embedding. Marker genes from PCA analysis were compared to previously reported renal marker genes for mouse. Differential gene expression between case and control was calculated using the Wilcoxon rank sum test in Seurat.


Ten clusters were definitively identified as tubular in nature using marker genes. PKD1 was not differentially expressed between cases and controls, consistent with previous bulk RNA-seq studies. 85 genes were upregulated in PKD1 +/- cystic areas compared to controls, eleven of which were identified as part of the PKD signature in previous metaanalysis by Almeida, et al. Twenty-seven genes were upregulated in wildtype tissue, three of which were identified as part of the PKD signature in a previous metanalysis.


This study provides the first characterization of porcine PKD1 +/- population cell populations using scRNA-seq and provides a preliminary look at differential gene expression within the tubular component of cells between wildtype and PKD+/- tissue. Given the low power to detect change due to small sample size and lack of single cell transcription datasets for ADPKD comparison, we still identified differential expression of several genes previously reported to play a role in ADPKD. We are currently validating our findings on an additional 12 different pigs with up to 4 samples per animal.


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