Abstract. We explore the relationship between the melanophilin (MLPH) gene
and quail plumage color and provide a reference for subsequent quail plumage
color breeding. In this experiment, real-time quantitative PCR (RT-qPCR) technology was used to analyze
the relative mRNA expression levels of Korean quail (maroon) and Beijing
white quail embryos at different developmental stages. Two single-nucleotide polymorphisms (SNPs) in the MLPH gene
were screened based on the RNA-sequencing (RNA-Seq) data of skin tissues of Korean quail and
Beijing white quail during the embryonic stage. Kompetitive allele-specific PCR (KASP) technology was used for
genotyping in the resource population, and correlation analysis was carried
out with the plumage color traits of quail. Finally, bioinformatics
was used to predict the effects of these two SNPs on the structure
and function of the encoded protein. The results showed that the expression
level of the MLPH gene during embryonic development of Beijing white quail was
significantly higher than that of Korean quail (P<0.01). The
frequency distribution of the three genotypes (CC, CA and AA) of the Beijing
white quail at the c.1807C > A mutation site was significantly
different from that of the Korean quail (P<0.01). The frequency
distribution of the three genotypes (GG, GA and AA) of the Beijing white
quail at the c.2129G > A mutation site was significantly
different from that of the Korean quail (P<0.01). And there was a
significant correlation between the c.1807C > A mutation site
and the white plumage phenotype. Bioinformatics showed that SNP1 (c.1807C > A) was a neutral mutation and that SNP2 (c.2129G > A) was a deleterious mutation. The prediction of protein conservation showed
that the mutation sites of coding proteins R603S and G710D caused by SNP1 (c.1807C > A) and SNP2 (c.2129G > A) were highly
conserved.
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