SEQUENCING AND MUTATION ANALYSIS OF EXON 10 REGION OF MITF GENE IN TURKISH VAN CATS

İleri M., Arslan M.

10th INTERNATIONAL ZEUGMA CONFERENCE ON SCIENTIFIC RESEARCH, Gaziantep, Türkiye, 25 - 26 Haziran 2023, ss.338

  • Yayın Türü: Bildiri / Özet Bildiri
  • Basıldığı Şehir: Gaziantep
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.338
  • Van Yüzüncü Yıl Üniversitesi Adresli: Evet

Özet

Turkish Van cat is a special cat breed of Turkey. The cats are very social and, have white fur and different

eye color called heterochromia iridium. The heterochromia iridium also occurs in humans and other

animals. Heterochromia iridium, pigment loss, and deafness are among the signatures of Waardenburg

syndrome in humans. Studies have shown that Waardenburg syndrome is a genetic disease, and several

genes and mutations are responsible for its development. Melanocyte inducing transcription factor

(MITF) is one of the genes found mutated and takes role in melanocyte cells’ differentiations and

functioning. Some mutations were reported in the coding or splice region of the MITF gene in humans

and some animal models. However, in white cats or Turkish Van cats, MITF gene variations have not

been studied yet. The aim of the study was to characterize exon 10 region of the MITF gene in Turkish

Van cats and investigate its association with heterochromia iridium. Oral swabs were obtained from 40

blue, 40 amber, and 40 odd-eyed cats, and DNA extraction was carried out from the samples.

Concentrations and purities of the isolated DNA samples were determined by spectrophotometer. For

each group, DNA sequences of 12 individual and 1 pooled which included equimolar DNA samples of

28 cats were investigated. The exon 10 region of the MITF gene was amplified by PCR and, DNA

sequences were obtained by Sanger sequencing. Thereby, 36 individual and 3 pooled DNA sequences

were obtained in total. The obtained DNA sequences and pool chromatograms were compared between

reference DNA and the groups. However, no mutation in the exon 10 region or splice acceptor and donor

sites was found. To conclude, the exon 10 region of the MITF gene is not responsible for the

phenotypical features of Turkish Van cats. Other regions of the MITF gene or other genes could take a

role in the development of phenotypical features such as heterochromia iridium of Turkish Van cats.