PMEL as a candidate gene for coat color differentiation in Sibu yaks: Genetic and functional insights

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	PMEL as a candidate gene for coat color differentiation in Sibu yaks: Genetic and functional insights
	Zhang, HY; Xu, L; Wang, JH; Ceccobelli, S; Zhu, Y; Zhang, Q; Zhang, CF; Hu, PF; Liu, CL; Yang, BG; Ruan, PC; Ren, T; Cong, H; Zeng, Y; Han, YG; Wang, SZ; Zhao, YJ; Zhao, ZQ; Huang, YF; Nie, WH; E, GX
	2025
发表期刊	Zool. Res.
ISSN	2095-8137
卷号	46 期号:6 页码:1363-1374
摘要	Coat color represents a key phenotypic trait in Sibu yak, exhibiting distinct black and brown phenotypes. To elucidate the genetic basis of the brown phenotype, genome-wide association studies and multi-omics analyses were integrated to identify loci and molecular pathways involved in pigmentation. In total, 11 single-nucleotide polymorphisms (SNPs) on chromosome (chr) 5 displayed genome-wide significance (P-adjust<4.47x10(-9)), with the lead variant (chr5: g.47487664 A>G, P-adjust=2.38x10(-10)) located within an intron of PMEL. Expression analysis revealed markedly reduced PMEL transcription in fibroblasts from brown individuals. Functional multi-omics analyses of PMEL overexpression demonstrated significant alteration of the expression of 1 088 genes, 444 proteins, and 57 metabolites. Enrichment analyses indicated significant involvement of melanogenesis-related signaling cascades, including cAMP (e.g., ADCY7, EDNRA, and epinephrine), PI3K-Akt (e.g., FGF5, PIK3CG, and FGF7), and MAPK (e.g., MAP2K6, FGFR3, and ERBB4) pathways. These findings indicate that the intronic PMEL variant modulates gene expression and pigmentation through coordinated regulation of these pathways, thereby contributing to the phenotypic divergence of Sibu yak coat color. This study provides valuable insights into the genetic mechanisms underlying Sibu yak pigmentation and identifies PMEL as a key candidate gene governing coat color differentiation in Sibu yak.
收录类别	SCIE
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/15153
专题	其他
推荐引用方式 GB/T 7714	Zhang, HY,Xu, L,Wang, JH,et al. PMEL as a candidate gene for coat color differentiation in Sibu yaks: Genetic and functional insights[J]. Zool. Res.,2025,46(6):1363-1374.
APA	Zhang, HY.,Xu, L.,Wang, JH.,Ceccobelli, S.,Zhu, Y.,...&E, GX.(2025).PMEL as a candidate gene for coat color differentiation in Sibu yaks: Genetic and functional insights.Zool. Res.,46(6),1363-1374.
MLA	Zhang, HY,et al."PMEL as a candidate gene for coat color differentiation in Sibu yaks: Genetic and functional insights".Zool. Res. 46.6(2025):1363-1374.

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