Bcl-2基因功能与灵长类体型大小的适应性进化研究
收稿日期: 2025-04-11
修回日期: 2025-06-26
网络出版日期: 2025-07-22
基金资助
现场物证溯源技术国家工程实验室开放课题(2018NELKFKT15)
Function of Bcl-2 gene and its mechanism on body size adaptive evolution in primates
Received date: 2025-04-11
Revised date: 2025-06-26
Online published: 2025-07-22
Supported by
Open Project of National Engineering Laboratory for Forensic Science(2018NELKFKT15)
不同灵长类物种中存在体型上的显著差异，为探究影响灵长类体型演化的相关基因，选取6种体型差异显著的灵长类物种，通过比较基因组、分子进化和转录组学的分析手段筛选到Bcl-2基因对灵长类体型有显著的影响。结果显示，Bcl-2基因表达量与体型大小呈正相关，并且其在不同体型物种中经历了差异化的自然选择。群体遗传分析发现，Bcl-2特定SNP位点与体型进化相关，细胞实验证实该基因通过调控Wnt/β-catenin和BMP等通路影响成骨细胞增殖。多组学综合分析还表明，Bcl-2表达水平随体型增大而升高，在体型差异大的物种间表现出显著的选择信号和理化性质差异。基因功能研究表明，Bcl-2通过调控骨骼发育相关通路在体型演化中发挥关键作用。本研究揭示了Bcl-2作为关键调控因子，通过影响细胞凋亡、骨骼发育和代谢等过程参与灵长类体型适应性进化。本研究从进化遗传学角度揭示了导致灵长类体型差异的分子机制，为理解灵长类体型演化提供了新见解。
李润, 石宏 . Bcl-2基因功能与灵长类体型大小的适应性进化研究[J]. 遗传, 2025 , 47(11) : 1231 -1243 . DOI: 10.16288/j.yczz.25-101
Significant body size variations exist among different primate species. To investigate the genes influencing primate body size evolution, this study employed evolutionary genetics approaches to analyze functional differences and natural selection patterns of genes across species with distinct body sizes. Six primate species representing significant size variations were selected. Through comparative analysis of genome, molecular evolution and RNA-seq, Bcl-2 gene was detected and it has a significant impact on primate body size. Results demonstrated a positive correlation between Bcl-2 gene expression levels with body size, with differential natural selection observed among species of varying sizes. Population genetic analysis identified specific Bcl-2 SNP loci associated with body size evolution, and cellular experiments confirmed that this gene regulates osteoblast proliferation through pathways such as Wnt/β-catenin and BMP signaling. Multi-omics analysis further revealed that Bcl-2 expression increases with body size and exhibits significant selection signals and physicochemical property differences between species with substantial size variations. Functional studies indicated that Bcl-2 plays a crucial role in body size evolution by regulating skeletal development-related pathways. This study systematically reveals Bcl-2 as a key regulatory factor influencing primate adaptive body size evolution through processes such as apoptosis, skeletal development, and metabolism. From an evolutionary genetics perspective, it elucidates the molecular mechanisms underlying body size differences, providing new insights into primate body size evolution.
Key words： Bcl-2; apoptosis; primates body size; evolutionary analysis
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