Liu Huamiao, Zhu Bo, Wang Tianjiao, Dong Yimeng, Ju Yan, Li Yang, Su Weilin, Zhang Ranran, Dong Shiwu, Wang Hongliang, Zhou Yongna, Zhu Yanmin, Wang Lei, Zhang Zhengyi, Zhao Pei, Zhang Shuyan, Guo Rui, A E, Zhang Yuwen, Liu Xin, Tamate Hidetoshi B, Liang Qiqi, Ma De, Xing Xiumei
State Key Laboratory for Molecular Biology of Special Economic Animals, Institute of Special Animal and Plant Sciences, Chinese Academy of Agricultural Sciences, Changchun, 130112, China.
Novogene Bioinformatics Institute, Beijing, 100083, China.
BMC Genomics. 2025 Apr 11;26(1):364. doi: 10.1186/s12864-025-11541-w.
Population genomic analysis can reconstruct the phylogenetic relationship and demographic history, and identify genomic selective signatures of a species. To date, fundamental aspects of population genomic analyses, such as intraspecies taxonomy, evolutionary history, and adaptive evolution, of sika deer have not been systematically investigated. Furthermore, accumulating lines of evidences have illustrated that incorrect species delimitation will mislead conservation decisions, and even lead to irreversible mistakes in threatened species.
In this study, we resequenced 81 wild and 71 domesticated sika deer representing 10 main geographic populations and two farms to clarify the species delimitation, demographic and divergence histories, and adaptive evolution of this species. First, our analyses of whole genomes, Y chromosomes and mitochondrial genomes revealed substantial genetic differentiation between the continental and Japanese lineages of sika deer, representing two phylogenetically distinct species. Second, sika deer in Japan were inferred to have experienced a "divergence-mixing-isolation" evolutionary scenario. Third, we identified four candidate genes (XKR4, NPAS3, CTNNA3, and CNTNAP5) possibly involved in body size regulation of sika deer by selective sweep analysis. Furthermore, we also detected two candidate genes (NRP2 and EDIL3) that may be associated with an important economic trait (antler weight) were under selection during the process of domestication.
Population genomic analyses revealed that the continental and Japanese lineages represent distinct phylogenetic species. Moreover, our results provide insights into the genetic selection signatures related to body size differences and a valuable genomic resource for future genetic studies and genomics-informed breeding of sika deer.
群体基因组分析可以重建物种的系统发育关系和种群历史,并识别物种的基因组选择特征。迄今为止,梅花鹿群体基因组分析的基本方面,如种内分类、进化历史和适应性进化,尚未得到系统研究。此外,越来越多的证据表明,错误的物种界定会误导保护决策,甚至在濒危物种中导致不可逆转的错误。
在本研究中,我们对代表10个主要地理种群和两个养殖场的81只野生梅花鹿和71只家养梅花鹿进行了重测序,以阐明该物种的物种界定、种群动态和分化历史以及适应性进化。首先,我们对全基因组、Y染色体和线粒体基因组的分析揭示了梅花鹿大陆谱系和日本谱系之间存在显著的遗传分化,代表了两个系统发育上不同的物种。其次,推断日本梅花鹿经历了一个“分化-混合-隔离”的进化过程。第三,通过选择性清除分析,我们确定了四个可能参与梅花鹿体型调控的候选基因(XKR4、NPAS3、CTNNA3和CNTNAP5)。此外,我们还检测到两个可能与一个重要经济性状(鹿茸重量)相关的候选基因(NRP2和EDIL3)在驯化过程中受到选择。
群体基因组分析表明,大陆谱系和日本谱系代表不同的系统发育物种。此外,我们的结果为与体型差异相关的遗传选择特征提供了见解,并为未来梅花鹿的遗传研究和基于基因组学的育种提供了宝贵的基因组资源。