上游的开放阅读框架可能包含数百个新的人类前子
Hyun Joo Ji1,2, Steven L Salzberg1,2,3,4
1Center for Computational Biology, Johns Hopkins University; Baltimore, Maryland, United States of America.
PLoS computational biology
|November 20, 2024
概括
数以千计的新型人类基因可能不存在. 相反,短开放的读取框架 (ORF) 可能是替代蛋白质编码外原体,扩展现有的基因并改善蛋白质结构.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 最近的研究建议将人类基因目录扩展到数千个短开放阅读框架 (ORF).
- 这些ORF被提议用于创建新型的二基斯特律转录,挑战当前的基因注释.
- 需要对这些ORF的转化和进化证据进行替代解释.
研究的目的:
- 调查是否提出的新型上游ORFs (uORFs) 在现有基因中作为替代蛋白质编码外基因起作用.
- 在不调用新基因或二基斯特律转录的情况下,重新评估uORFs的性质.
主要方法:
- 在四个人类基因组中检查了2,199个高质量的候选uORF用于保护.
- 搜索了将uORF与下游蛋白质编码基因联系起来的拼接证据.
- 利用蛋白质结构预测来评估新型外子含有蛋白质的功能潜力.
主要成果:
- 大多数 (87.8%) 的uORF在人类基因组中被保存.
- 在2,199个uORF中,541个表现出强有力的证据表明它们是功能蛋白编码外基子.
- 预测包含这些新型外原体的蛋白质具有可比或优越的结构质量.
结论:
- 这些发现支持了许多拟议的uORFs是替代外原体,而不是新型基因的假设.
- 这种重新注释扩展了现有的基因,而不是增加基因数量.
- 这项研究完善了我们对人类基因结构和蛋白质多样性的理解.
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