揭示人类和其他灵长类动物中孤儿载体SLC22A10的功能
Sook Wah Yee1, Luis Ferrández-Peral2, Pol Alentorn2
1Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, California, USA.
bioRxiv : the preprint server for biology
|August 23, 2023
概括
人类的SLC22A10是由于突变而导致的非功能转运器,与运输性类固醇合体的大猿版本不同. 这种无活化发生在人类进化过程中,使该基因成为伪基因.
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:
- SLC22A10是一个孤儿传送器,具有不具特征的基板和功能.
- 人类SLC22A10在等离子体膜定位和功能方面与大猿类的 ортолог不同.
研究的目的:
- 为了确定人类SLC22A10.10的基质特异性和功能特征.
- 为了研究人类血统中SLC22A10的进化失活.
主要方法:
- 人类SLC22A10.10的绿色光蛋白 (GFP) 标记
- 细胞培养中的表达分析.
- 序列对齐和局部定向的突变发生.
- 对人类基因组的基因组分析.
主要成果:
- 人类SLC22A10不在血中,缺乏吸收功能.
- 大猿 SLC22A10 ортолог 运输雌二醇-17β-葡萄化物.
- 一个单一的氨基酸变化 (P220L) 恢复了人体SLC22A10.10的血膜局部化和功能.
- 人类,尼安德特人和丹尼索瓦人的基因组共享在220位的无活化突变.
结论:
- 人类SLC22A10是一种单元化伪基因,在人类进化过程中被固定误解突变禁用.
- 大猿SLC22A10的ortologs保留了运输性类固醇合物的功能.
- 这些发现为人类进化过程中输送器功能丧失提供了洞察力.
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