在人类和猿类的尾巴损失进化的遗传基础上
Bo Xia1,2,3,4, Weimin Zhang5, Guisheng Zhao6,5
1Institute for Computational Medicine, NYU Langone Health, New York, NY, USA. xiabo@broadinstitute.org.
Nature
|February 28, 2024
概括
人类的尾巴损失是通过在TBXT基因中插入Alu元素而演变的,导致了替代拼接. 这种基因变化导致小鼠没有尾巴,但也导致神经管缺陷,突出了进化上的权衡.
科学领域:
- 进化生物学
- 遗传学
- 发育生物学
背景情况:
- 尾巴的消失是人类进化的关键事件,可能与双脚性有关.
- 人类和猿类尾巴损失的遗传驱动因素在很大程度上仍未确定.
研究的目的:
- 为了研究人类进化过程中的遗传机制.
- 探索Alu元素插入TBXT基因在这种进化变化的作用.
主要方法:
- 在人类祖先的基因组中插入Alu元素的分析.
- 产生表达Tbxt基因不同异型的小鼠模型.
- 在工程小鼠中观察尾巴发育和神经管形成.
主要成果:
- 在TBXT基因内置中插入Alu元素产生了特定于人类的替代拼接事件.
- 具有异子跳过的Tbxt异形的小鼠模型显示尾巴损失或缩短.
- 在小鼠体内表达了跳过外子的Tbxt异型,导致神经管缺陷.
结论:
- TBXT基因的阿元素介导的替代拼接是人类类动物尾部丧失的可能原因.
- 尾部损失的演变可能伴随着神经管缺陷的风险增加.
- 这种基因变化对理解人类发育障碍有影响.
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