与血统相关的人类不同的配对基因表现出结构和调控特征
Guangya Duan1,2,3, Sisi Zhang1,2, Bixia Tang1,2
1National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China.
Genomics, proteomics & bioinformatics
|June 26, 2025
概括
不同配对基因 (DPG) 对于基因调节至关重要,在脊椎动物中显示出高度的保护性,特别是在哺乳动物和灵长类动物中. 人类DPG参与神经发育,并表现出血统特定的多样化.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 进化生物学 进化生物学
背景情况:
- 不同配对基因 (DPG) 形成最小的共同转录单元,占人类基因的10%以上.
- 与无脊椎动物对应物相比,脊椎动物DPG显示出显著的保护.
- 关键问题涉及脊椎动物中保存的DPG,促进体序列共享以及灵长类动物中人类DPG的分布和功能.
研究的目的:
- 在脊椎动物物种中识别保存的DPG,专注于哺乳动物和灵长类动物.
- 调查DPG中的配对促进体的机械和严格的序列共享.
- 分析人类DPG在灵长类的分布和生物学后果.
主要方法:
- 对人类DPG与灵长类动物,哺乳动物,鸟类和鱼类基因组进行比较基因组学分析.
- 评估跨转录起点 (跨TSS) 距离及其对基因同表达的影响.
- 在欧洲 (T2T-CHM13) 和中国 (T2T-YAO) 参考基因组中分析人类DPG.
主要成果:
- 确定了1399个人类DPG;观察到1136个 (灵长类动物),1118个 (哺乳动物),925个 (鸟类) 和830个 (鱼类) 的保护.
- DPGs在蛋白质-DNA相互作用和细胞循环同步方面具有功能丰富,具有谱系特定的关联.
- 跨TSS距离影响共同表达的强度和差异;灵长类DPG显示多样化和参与神经发育.
- 55和357个DPG分别是T2T-CHM13和T2T-YAO人类基因组的独特特征.
结论:
- DPGs表现出显著的跨脊椎动物保护,在哺乳动物和灵长类动物中显著的丰富.
- 基因共同表达和功能角色受到TSS间距离和血统的影响.
- 人类DPG表现出进化多样化,特别是在神经发育方面,以及人群特定的变异.
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