通过Alu-Sc介导的外化产生了一种线粒体LKB1基因变异,这种变异只在高阶灵长类动物中发现
Ivan Tan1, Sonia Chothani2, Hong-Hwa Lim1
1Singapore Immunology Network (SIgN), Agency for Science, Technology and Research (A*STAR), 8A Biomedical Grove, #04-06 Immunos, Singapore, 138648, Singapore.
Scientific reports
|January 27, 2025
概括
在LKB1/STK11基因中的新型外显子1b在灵长类动物进化晚期出现,由Alu-Sc元素介导. 这种外基子仅在人类和猿类中具有功能,与增加的体重和寿命有关.
科学领域:
- 进化生物学是进化的生物学.
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
背景情况:
- 瘤抑制剂LKB1/STK11对于细胞代谢和应激反应至关重要,突变与癌症有关.
- 在LKB1/STK11中,一种新型的1b外形产生了针对线粒体和调节氧化应激的替代异型.
研究的目的:
- 调查新型LKB1/STK11外体1b的进化起源和出现情况.
- 确定这种外基子在灵长类动物中的功能意义和进化分布.
主要方法:
- 在灵长类物种中对LKB1/STK11序列进行比较基因组分析.
- 识别和表征可逆转移的元素,特别是Alu-Sc,参与外化.
- 对拼接部位和翻译启动信号的分析,以评估外因子的功能.
主要成果:
- LKB1/STK11 异子1b 的异子化是由可逆转移的 Alu-Sc 元素介导的.
- 从新世界子开始就存在可识别的外基子1b序列.
- 功能性LKB1/STK11外基1b,具有重要的调节部位,仅在人类和类人猿中发现.
结论:
- 新的LKB1/STK11外1b是近期进化过程中大猿血统中获得的.
- 它的存在与增加人体质量和人类和大猿的寿命相关,这表明它在这些特征中发挥了作用.
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