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  • Küçük Resim
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    Prevalence of PKD1gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease
    (SAGE PUBLICATIONS INC, 2020) Bilgen, Nuket; Biskin Turkmen, Merve; Cinar Kul, Bengi; Isparta, Sevim; Sen, Yusuf; Akkurt, Mustafa Y.; Cildir, Ozge S.
    Polycystic 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.
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    Seasonal Gene Expression Profile Responsible for Hair Follicle Development in Angora Goats
    (Kafkas Univ, Veteriner Fakultesi Dergisi, 2023) Kul, Bengi Çınar; Bilgen, Nuket; Biskin, Merve; Akkurt, Mustafa Yenal; Çıldır, Özge Şebnem; Özmen, Özge; Kul, Oğuz
    Mammals have physiological reprogramming adaptation ability to changing seasonal light and temperature, through their biological clocks maintained by circadian rhythm, photoperiodism and thermoperiodism. Seasonal differences do not only affect vital activities of animals like migration, reproduction, and sleeping, but also cause dramatic changes in their economically important characteristics (e.g. fur quality and fattening level). Mohair is constituted of non-medullary hairs produced by secondary hair follicles in Angora goats and the effects of seasonal differences on mohair structure and related genes are still unknown. We examined the gene expression levels of BMP-2, FGF-5, HOXC13, KAP9.2 and TGFBR2 normalized with GAPDH in skin biopsies taken from Angora goats (n=20) in two different follicle development stages; telogen (in February) and anagen (in June). HOXC13 showed overexpression in anagen phase (P<0.005) whereas expression was undetectable in telogen phase. BMP-2 (P<0.005), FGF-5 (P<0.005) and TGFBR2 (P<0.01) were significantly upregulated in anagen, while KAP9.2 expression showed no difference between two phases. This is the first study on hair follicle-related genes in the angora goat. Additionally, depending the role of HOXC13 in pathways, it suggests that its overexpression may be one of the main factors associated with the non-medullary hair structure in Angora goats.