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有证据表明,人类对最近获得的调节功能进行了丰富的净化选择
1Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology (MIT), Cambridge, MA 02139, USA.
概括
人类基因组的进化表现出令人惊的活力. 非保存的元素正在选择中,表明新的功能,而一些保存的区域失去活动,揭示着正在进行的基因组变化.
科学领域:
- 基因组学就是基因组学.
- 进化生物学 进化生物学
- 人类遗传学 人类遗传学
背景情况:
- 只有5%的人类基因组在哺乳动物中保存.
- 基因组中的更大一部分是生物化学活跃的.
- 活跃的,非保存的基因组元素的进化命运尚不清楚.
研究的目的:
- 调查非保存的人类基因组元素是否在中性进化或在谱系特异性选择下.
- 确定保存与非保存基因组区域的进化动态.
- 识别人类基因组中选择中的潜在最近进化的功能.
主要方法:
- 来自1000个基因组项目的综合人类变异数据.
- 利用了来自ENCODE项目的基因组活动数据.
- 在保存和非保存的基因组元素中分析了人类多样性的模式.
主要成果:
- 在许多转录和调节性非保存元素中观察到人类多样性的减少,这表明净化选择.
- 缺乏活动的保存元素增加了人类的多样性,这表明最近的功能丧失.
- 在人类的约束下,在颜色视觉和神经生长的基因附近确定了调节元素,这意味着对新功能进行选择.
结论:
- 人类基因组的很大一部分,超出了保存区域,受到谱系特定的约束.
- 基因组调节区域表现出持续的营业额,新的功能在选择过程中不断演变.
- 这些发现凸显了人类基因组进化的动态性质和血统特异性适应的重要性.
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