Chongqing Academy of Animal Sciences, Rongchang 402460, China.
Institute of Animal Sciences, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Genes (Basel). 2023 May 29;14(6):1183. doi: 10.3390/genes14061183.
This study aimed to reveal the potential genetic basis for litter size, coat colour, black middorsal stripe and skin colour by combining genome-wide association analysis (GWAS) and selection signature analysis and ROH detection within the Youzhou dark (YZD) goat population (n = 206) using the Illumina GoatSNP54 BeadChip. In the GWAS, we identified one SNP (snp54094-scaffold824-899720) on chromosome 11 for litter size, two SNPs on chromosome 26 (snp11508-scaffold142-1990450, ) and chromosome 12 (snp55048-scaffold842-324525, ) for coat colour and one SNP on chromosome 18 (snp56013-scaffold873-22716, ) for the black middorsal stripe. In contrast, no SNPs were identified for skin colour. In selection signature analysis, 295 significant iHS genomic regions with a mean |iHS| score > 2.66, containing selection signatures encompassing 232 candidate genes were detected. In particular, 43 GO terms and one KEGG pathway were significantly enriched in the selected genes, which may contribute to the excellent environmental adaptability and characteristic trait formation during the domestication of YZD goats. In ROH detection, we identified 4446 ROH segments and 282 consensus ROH regions, among which nine common genes overlapped with those detected using the iHS method. Some known candidate genes for economic traits such as reproduction (, , , , , , , , and ) and development and growth (, , , , , , , and ) were revealed by iHS and ROH detection. Overall, this study is limited by the small population size, which affects the results of GWAS to a certain extent. Nevertheless, our findings could provide the first overview of the genetic mechanism underlying these important traits and provide novel insights into the future conservation and utilisation of Chinese goat germplasm resources.
本研究旨在通过全基因组关联分析(GWAS)和选择信号分析以及在利用 Illumina GoatSNP54 BeadChip 的 Youzhou 黑(YZD)山羊群体(n = 206)中检测 ROH,揭示产仔数、毛色、黑色中背条纹和皮肤颜色的潜在遗传基础。在 GWAS 中,我们鉴定出 11 号染色体上与产仔数相关的 1 个 SNP(snp54094-scaffold824-899720)、26 号染色体上与毛色相关的 2 个 SNP(snp11508-scaffold142-1990450、snp55048-scaffold842-324525)和 18 号染色体上与黑色中背条纹相关的 1 个 SNP(snp56013-scaffold873-22716)。相比之下,未鉴定出与皮肤颜色相关的 SNP。在选择信号分析中,检测到 295 个具有平均 |iHS| 评分>2.66 的显著 iHS 基因组区域,包含涵盖 232 个候选基因的选择信号。特别是,在选定基因中显著富集了 43 个 GO 术语和 1 个 KEGG 途径,这可能有助于 YZD 山羊在驯化过程中具有出色的环境适应性和特征性状形成。在 ROH 检测中,我们鉴定出 4446 个 ROH 片段和 282 个共识 ROH 区域,其中 9 个常见基因与 iHS 方法检测到的基因重叠。一些与繁殖(、、、、、、、和)和发育生长(、、、、、、、和)等经济性状相关的已知候选基因通过 iHS 和 ROH 检测得到揭示。总体而言,本研究受到小群体规模的限制,这在一定程度上影响了 GWAS 的结果。然而,我们的研究结果可以为这些重要性状的遗传机制提供初步概述,并为未来保护和利用中国山羊种质资源提供新的见解。