To investigate the molecular mechanisms underlying the differences in iris color in quail, the transcriptome of iris tissue from black quail and Korean quail at day 10 of hatching was RNA sequenced in this study. The differentially expressed genes (DEGs) were screened, functionally annotated and enriched after the quality control and mapping of the raw data. RT-qPCR validation was performed using EIF2S3 as an internal reference gene. The screened SNPs were studied by bioinformatics analysis and iris color correlation analysis. The results showed that there were 425 upregulated genes and 364 downregulated genes in 789 DEGs. Gene Ontology (GO) enrichment analysis revealed that 139 DEGs were significantly enriched in 154 GO terms. The Kyoto Encyclopedia of Genes and Genomes enrichment results showed that the Notch signaling pathway, melanogenesis and tyrosine metabolism were associated with pigment synthesis (p < 0.05). The expression levels of the ASIP, MLPH, PMEL, TYR and SOX10 genes were significantly different in black quail iris and Korean quail iris, as verified by RT-qPCR. The SOX10 gene c.324G>C mutation, which caused the replacement of p.Glu108Asp, had a highly significant correlation with iris color in black quail and Korean quail, which may be one of the reasons for different in iris color between these two quail species.

中文翻译：

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RNA测序分析揭示SOX10错义突变与鹌鹑虹膜颜色表型相关

为了研究鹌鹑虹膜颜色差异的分子机制，本研究对孵化第 10 天的黑鹌鹑和韩国鹌鹑虹膜组织的转录组进行了 RNA 测序。在对原始数据进行质量控制和绘图后，对差异表达基因（DEG）进行筛选、功能注释和富集。使用EIF2S3作为内参基因进行 RT-qPCR 验证。对筛选出的SNPs进行生物信息学分析和虹膜颜色相关性分析。结果显示，789个DEG中有425个上调基因，364个下调基因。基因本体（GO）富集分析显示，154 个 GO 术语中有 139 个 DEG 显着富集。京都基因和基因组百科全书富集结果显示，Notch 信号通路、黑素生成和酪氨酸代谢与色素合成相关（p  < 0.05）。RT-qPCR 验证黑鹌鹑虹膜和韩国鹌鹑虹膜中ASIP、MLPH、PMEL、TYR和SOX10基因的表达水平存在显着差异。SOX10基因c.324G>C突变导致p.Glu108Asp被取代，与黑鹌鹑和朝鲜鹌鹑的虹膜颜色具有极显着的相关性，这可能是这两种鹌鹑虹膜颜色不同的原因之一物种。