Epsilon Archive for Student Projects

Abstract

Since the 1920s, the number of goat farmers and the goat population in Sweden has declined, hence the need to actively find ways to conserve various Swedish breeds. This study contributes to genetic diversity research by identifying the possible TYRP1 and MC1R mutations that may contribute to coat colour in Swedish goat breeds. To conduct this study, sanger sequencing using the BigDye Direct Cycle kit was used and the sequences were analyzed and visualised for variations on Geneious Prime software. It was observed that the TYRP1 gene, which was previously studied in other mutations found in other breeds, did not explain coat colour in Swedish goats. However, results indicate that two variants were found outside exon 8 and in the 3’ downstream sequence, suggesting a possible linkage disequilibrium with another gene or various effects from the regulatory regions. An MC1R missense mutation, c.676A>G, causing an amino
acid substitution p.K226E associated with red hair, was identified, revealing a high allele frequency for brown and white coloured goats. Previously reported mutations (p.F250V, p.C267W, p.61A) were not present, except in Goinge goats. The results highlight the genetic variation present in Swedish goats and recommends implementation of conservation plans for at-risk breeds to protect
their genetic diversity.