Identification of Polymorphisms in the HERC2-OCA2 Gene Locus and their Association with Feather Color in Quail

Mutations in the HERC2 and OCA2 genes have the potential to affect pigment deposition and alter feather color in birds. Therefore, in this study, we evaluated HERC2-OCA2 gene locus polymorphisms in Korean and Beijing white quails using RNA-Seq and KASP technology. The expression levels of HERC2 and OCA2 mRNA in skin tissues were analyzed using RT-qPCR. Ten single nucleotide polymorphisms were identified by RNA-Seq, of which three (n.117627564T>A, n.117674275T>G, n.117686226A>C) exhibited significant association with feather color in quail. The expression of OCA2 mRNA was significantly lower in the skin of Beijing white quails than that in the skin of Korean quails. These results sug-gested that variants in HERC2-OCA2 intergenic region could influence the expression of OCA2, which may underlie diluted feather color in the Beijing white quail.

Automated summary

In this study, HERC2-OCA2 gene locus polymorphisms were evaluated in Korean and Beijing white quails using RNA-Seq and KASP technology. Three single nucleotide polymorphisms were found to be significantly associated with feather color in quail, and the expression of OCA2 mRNA was lower in Beijing white quails compared to Korean quails. These findings suggest that variants in the HERC2-OCA2 intergenic region could influence OCA2 expression and contribute to the diluted feather color in Beijing white quail.