Investigation of the Frequency of CWC15 Gene Mutation and Its Association with Infertility

Abstract

The CWC15 gene encodes a protein that plays a role in mRNA splicing and facilitates the maturation of mRNA. Mutations occurring in the CWC15 gene can negatively impact embryonic development. In this study, we investigated the detrimental effect of a Single Nucleotide Polymorphism (SNP) called JH1, located in the CWC15 gene, on fertility in Jersey cattle. Samples were collected from 172 Jersey cows obtained from a limited number of Jersey farms in our country, including milk and saliva samples. The frequency of JH1 carriers and its association with infertility were determined through population screening using Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) and DNA sequencing techniques. The study was conducted using randomly selected animals from the herd, without employing any exclusion criteria, and data obtained from the animal recording system. As a result, 9 out of 172 Jersey cows (5.23%) were identified as JH1 carriers. Although a correlation between JH1 and fertility was found, it was not statistically significant (P>0.05). Due to the economic loss caused by early embryonic deaths attributed to JH1, screening of imported Jersey semen and female animals can help prevent the increase of JH1 frequency in the entire population. © 2025 University of Zagreb, Facultty of Veterinary Medicine. All rights reserved.