Med. Weter. 75 (12), 719-723, 2019

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MAŁGORZATA WASIELEWSKA, IWONA SZATKOWSKA, EWA CZERNIAWSKA–PIĄTKOWSKA, DANIEL ZABORSKI
Molecular background of hereditary nephropathies in spaniel dogs
The molecular background of hereditary nephropathies in English Cocker Spaniels and Springer Spaniels remained unclear until the beginning of the 21st century. It was only the discovery of an association between these diseases and Alport syndrome in humans that made it possible to identify the genes potentially responsible for nephropathies in dogs. Eventually, two mutations were identified in the COL4A4 gene coding for the alpha chains of collagen IV, the main component of the glomerular basement membrane (GBM). This review presents the molecular mechanism resulting from the aforementioned mutations, the signs of disease, functions of the GBM, and breeding aspects.
Keywords: hereditary nephropathies, Cocker Spaniel, Springer Spaniel, COL4A4 mutations