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Abstract：
Iris color is a prominent phenotypic feature of quail. To understand the mechanism of melanin deposition related to quail iris color, iris tissues were selected from Beijing white and Chinese yellow quail for transcriptome analysis. Differentially expressed genes (DEGs) associated with pigmentation were identified using RNA sequencing and validated by quantitative real-time polymerase chain reaction (RT-qPCR). The identified single nucleotide polymorphisms were studied using bioinformatics and iris color correlation analyses. A total of 485 DEGs were obtained, with 223 upregulated and 262 downregulated. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were performed. Thirty-two genes were annotated using the GO database. Three important pigment synthesis pathways (Notch signaling, melanogenesis, and tyrosine metabolism) were identified in quail iris tissue (P < 0.05). The expression levels of solute carrier family 45 member 2 (SLC45A2), tyrosinase-related protein 1, vitamin D receptor, opsin 5, and docking protein 5 were significantly different between Beijing white and Chinese yellow quail, as verified by RT-qPCR. The c.1061C>T mutation in SLC45A2, which caused a single amino acid change at position 354 (threonine to methionine), was significantly associated with iris color in Beijing white and Chinese yellow quail, and might be the main reason for the different iris colors between these two quail species.
摘要：
虹膜颜色是鹌鹑的突出表型特征。为了解与鹌鹑虹膜颜色有关的黑色素沉积机制，从北京白鹌鹑和中国黄鹌鹑中选择虹膜组织进行转录组分析。使用RNA测序鉴定与色素沉着相关的差异表达基因（DEGs），并通过定量实时聚合酶链反应（RT-qPCR）进行验证。使用生物信息学和虹膜颜色相关分析研究了鉴定的单核苷酸多态性。总共获得了485个DEG，223上调，262下调。进行基因本体论(GO)和京都基因百科全书和基因组途径富集分析。使用GO数据库注释了32个基因。三种重要的色素合成途径（Notch信号，黑色素生成，和酪氨酸代谢）在鹌鹑虹膜组织中鉴定（P<0.05）。溶质载体家族45成员2（SLC45A2）的表达水平，酪氨酸酶相关蛋白1,维生素D受体,视蛋白5和对接蛋白5在北京白鹌鹑和中国黄鹌鹑之间存在显着差异，如通过RT-qPCR验证的。SLC45A2中的c.1061C>T突变，导致354位的单个氨基酸变化（苏氨酸至甲硫氨酸），与北京白色和中国黄色鹌鹑的虹膜颜色显着相关，这可能是这两种鹌鹑虹膜颜色不同的主要原因。
