Peer-reviewed veterinary case report
Gene mutation linked to polycystic kidney disease in Bull Terriers
By Puya Gharahkhani et al.·Published in PLoS ONE·2011·View original on DOAJ →
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Original publication title: A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers.
- Species:
- dog
Plain-English summary
A study found that a specific genetic mutation in the Pkd1 gene is linked to Polycystic Kidney Disease (PKD) in Bull Terriers. This disease can be inherited and is common in certain lines of this breed. Researchers identified a mutation that affects the protein involved in kidney function, which could lead to kidney problems. By using a special test, they were able to detect this mutation in affected Bull Terriers, helping to identify at-risk dogs before they are bred. This could help reduce the spread of the disease in future generations.
People also search for: Bull Terrier kidney disease symptoms · Bull Terrier PKD treatment · genetic testing for Bull Terriers
Abstract
Polycystic Kidney Disease is an autosomal dominant disease common in some lines of Bull Terriers (BTPKD). The disease is linked to the canine orthologue of human PKD1 gene, Pkd1, located on CFA06, but no disease-associated mutation has been reported. This study sequenced genomic DNA from two Bull Terriers with BTPKD and two without the disease. A non-synonymous G>A transition mutation in exon 29 of Pkd1 was identified. A TaqMan® SNP Genotyping Assay was designed and demonstrated the heterozygous detection of the mutation in 47 Bull Terriers with BTPKD, but not in 102 Bull Terriers over one year of age and without BTPKD. This missense mutation replaces a glutamic acid residue with a lysine residue in the predicted protein, Polycystin 1. This region of Polycystin 1 is highly conserved between species, and is located in the first cytoplasmic loop of the predicted protein structure, close to the PLAT domain and the second transmembrane region. Thus, this change could alter Polycystin 1 binding or localization. Analytic programs PolyPhen 2, Align GVGD and SIFT predict this mutation to be pathogenic. Thus, BTPKD is associated with a missense mutation in Pkd1, and the application of this mutation specific assay could reduce disease transmission by allowing diagnosis of disease in young animals prior to breeding.
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Search related cases →Original publication on DOAJ: https://doi.org/10.1371/journal.pone.0022455