【作者】 曲丽； 王落桐； 何菲菲； 韩逸伦； 杨龙澍； 朱怀球；

【Author】 Li Qu;Luotong Wang;Feifei He;Yilun Han;Longshu Yang;Huaiqiu Zhu;Department of Biomedical Engineering, and Center for Quantitative Biology, Peking University;

【机构】 北京大学生物医学工程系北京大学定量生物学中心；

【摘要】 目的:微倒位结构变异(Micro-inversion, MI)被定义为基因组上长度小于100 bp的倒位结构变异。微倒位结构变异在人类遗传进化、基因组多样性和人类健康有重要的作用。研究MI对于理解人类进化历史、种族多样性以及后续疾病相关的分析有重要的意义。方法:使用MID工具,以hg19为参考基因组序列检测人类基因组计划中来自全世界五个地区的26个人种共1937个样本以及与人进化距离最接近的七个非人灵长类基因组中微倒位结构变异;使用主成分分析方法分析26个人种的微倒位结构变异分布;利用系统发育树分析方法研究全世界五个地区人种的进化结构关系;利用统计学方法分析微倒位结构变异所在的基因与人类健康的关系。结果:在人类基因组中共检测出6,968个微倒位结构变异,在七个非人灵长类中共检测出24,476个微倒位结构变异;非人灵长类与人类基因组共有82个MI重叠,且与非洲人的重叠的次数最高,这可能与非洲起源学说有关;对人类基因组计划不同人的微倒位结构变异的聚类和进化树分析结果与人类的历史迁徙、地理位置的分布、祖先谱系组成相一致,同时,也进一步佐证了非洲起源学说。结论:人类基因组的微倒位结构变异可以作为一种可能的进化标记来用于研究人类基因组的多样性。结果显示微倒位结构变异具有多样性,其分布与进化、环境适应性以及疾病可能有密切的关系。更多还原

【Abstract】 Purpose: Micro-inversions(MIs) are generally defined as small(<100 bp) inversion. Portraying the pattern of MIs among ethnically diverse populations is demanding for interpreting human evolution history, exploring human genome diversity and giving insight into genetic disease-related studies. Methods: The distribution of MIs in 26 human populations from the 1000 Genome Project and seven non-human primate genomes with hg19 as the reference genome was detected with the tool of MID. PCA analysis and phylogenetic tree analysis were performed to explore the structure of the 26 human populations based on MIs. The functions of MIs located within genes associated with human health were investigated. Results: 6,968 MIs among the 1,937 human samples, and 24,476 MIs among the seven non-human primate genomes were detected in total; Non-human primates and human populations shared only 82 MIs, and Africans had the most MIs in common with nonhuman primates, which is consistent with the "Out of Africa" hypothesis; The cluster of MIs in the human populations coincided with human migration history, geographical distribution and ancestral lineage. Conclusions: MIs were potential evolutionary markers for investigating population dynamics. Besides, the diversity of MIs in human populations showed that they were related to evolution, environmental adaptation, and health.更多还原