Expression and Mutation of SLC45A2 Affects Iris Color in Quail

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...

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Bibliographic Details
Published in:The Journal of Poultry Science 2024, Vol.61, pp.2024015
Main Authors: Huo, Linke, Zhang, Xiaohui, Pang, Youzhi, Qi, Yanxia, Ren, Shiwei, Wu, Fanghu, Shang, Yuanyuan, Xi, Jinquan
Format: Article
Language:English
Subjects:
Amino acids
Bioinformatics
Color
Correlation analysis
DNA-directed RNA polymerase
Down-regulation
Gene sequencing
Genes
iris color
Melanin
Methionine
Mutation
Nucleotides
Pigmentation
Polymerase chain reaction
Proteins
quail
Real time
RNA-Seq
RT-qPCR
Single-nucleotide polymorphism
SLC45A2
Transcriptomes
Tyrosinase
Tyrosinase-related protein 1
Tyrosine
Vitamin D
Vitamin D receptors
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Summary: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.
ISSN:1346-7395
1349-0486
DOI:10.2141/jpsa.2024015