Prevalence of PKD1gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease

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dc.contributor.authorBilgen, Nuket
dc.contributor.authorBiskin Turkmen, Merve
dc.contributor.authorCinar Kul, Bengi
dc.contributor.authorIsparta, Sevim
dc.contributor.authorSen, Yusuf
dc.contributor.authorAkkurt, Mustafa Y.
dc.contributor.authorCildir, Ozge S.
dc.date.accessioned2021-01-14T18:10:31Z
dc.date.available2021-01-14T18:10:31Z
dc.date.issued2020
dc.departmentKKÜ
dc.descriptionIsparta, Sevim/0000-0002-1575-7861; Bars, Zeynep/0000-0002-8116-1855; CINAR KUL, Bengi/0000-0002-8955-0097; Cildir, Ozge Sebnem/0000-0001-7070-4212
dc.description.abstractPolycystic kidney disease (PKD) is one of the most common hereditary diseases in cats, with high prevalence in Persian and Persian-related cats. PKD is caused mainly by an inherited autosomal dominant (AD) mutation, and animals may be asymptomatic for years. We screened 16 cats from various breeds exhibiting a renal abnormality by ultrasound examination and genotyped them for the c.10063C>A transversion on exon 29 of the polycystin-1 (PKD1) gene, by PCR-restriction fragment length polymorphism (PCR-RFLP). Among these cats, a Siamese nuclear family of 4 cats with ancestral hereditary renal failure were screened by whole-genome sequencing (WGS) to determine novel variations in genes associated with both AD and autosomal recessive PKD in humans. During the study period, one cat died as a result of renal failure and was forwarded for autopsy. Additionally, we screened 294 cats asymptomatic for renal disease (Angora, Van, Persian, Siamese, Scottish Fold, Exotic Shorthair, British Shorthair, and mixed breeds) to determine the prevalence of the mutation in cats in Turkey. Ten of the symptomatic and 2 of the asymptomatic cats carried the heterozygous C -> A transversion, indicating a prevalence of 62.5% and 0.68%, respectively. In the WGS analysis of 4 cats in the Siamese nuclear family, novel variations were determined in the fibrocystin gene (PKHD1), which was not compatible with dominant inheritance of PKD.en_US
dc.identifier.citationBu makale açık erişimli değildir.en_US
dc.identifier.doi10.1177/1040638720935433
dc.identifier.endpage555en_US
dc.identifier.issn1040-6387
dc.identifier.issn1943-4936
dc.identifier.issue4en_US
dc.identifier.pmid32687010
dc.identifier.scopus2-s2.0-85088351118
dc.identifier.scopusqualityQ1
dc.identifier.startpage549en_US
dc.identifier.urihttps://doi.org/10.1177/1040638720935433
dc.identifier.urihttps://hdl.handle.net/20.500.12587/12653
dc.identifier.volume32en_US
dc.identifier.wosWOS:000550747800007
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSAGE PUBLICATIONS INCen_US
dc.relation.ispartofJOURNAL OF VETERINARY DIAGNOSTIC INVESTIGATION
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectADPKDen_US
dc.subjectautosomal dominanten_US
dc.subjectcatsen_US
dc.subjecthereditary diseaseen_US
dc.subjectkidneyen_US
dc.subjectpolycystic kidney diseaseen_US
dc.titlePrevalence of PKD1gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney diseaseen_US
dc.typeArticle

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