人类特有的De Novo开放阅读框架及其相关的转录沉默器的演变
1Department of Microbiology and Immunology, Renaissance School of Medicine, Stony Brook University, Stony Brook, NY 11794, USA.
International journal of molecular sciences
|April 13, 2024
概括
SMIM45基因产生了两种不同的开放式读取框架 (ORF),具有古老的和灵长类动物特有的进化起源. 一个古老的ORF高度保存,而一个灵长类动物特有的ORF可能在人类大脑发育中发挥作用.
科学领域:
- 基因组学就是基因组学.
- 进化生物学 进化生物学
- 分子生物学分子生物学
背景情况:
- SMIM45基因产生了两个不同的开放阅读框架 (ORF),具有不同的进化轨迹和转化特性.
- 了解这些ORF和相关的调控元素的进化历史,可以深入了解基因进化和功能.
研究的目的:
- 研究SMIM45基因组件的进化起源和发展.
- 阐明灵长类动物进化过程中107氨基酸 (aa) ORF的形成及其在人类大脑发育中的潜在作用.
主要方法:
- 进行比较基因组学,以追踪SMIM45组件的进化起源.
- 分析突变模式,以了解灵长类动物进化过程中的序列发展.
主要成果:
- 一个68 aa的ORF是超级保存的,其起源早于大象鱼分歧 (~462 MYA).
- 一个转录沉声器也显示了复杂的进化形成的古代起源.
- 107 aa的ORF在灵长类的进化过程中从胎盘哺乳动物 (~99 MYA) 的非编码区域 de novo 进化,可能与人类大脑发育有关.
结论:
- SMIM45基因含有具有古老和灵长类动物特异性的进化历史的组件.
- 107 aa的ORF及其调节性沉声器可能代表着具有预先确定的祖先起源的人类特异性创新.
- 需要进一步的研究来探索107 aa ORF在胚胎组织中的时空表达和功能,特别是与大脑发育有关的研究.
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