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In-vitro Mutagenesis

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AAV Deployment of Enhancer-Based Expression Constructs In Vivo in Mouse Brain

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Published on: March 31, 2022

在发育增强剂中,人类特异性的功能增益.

Shyam Prabhakar¹, Axel Visel, Jennifer A Akiyama

¹Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.

Science (New York, N.Y.)

|September 6, 2008

概括

此摘要是机器生成的。

人类基因调节的变化有助于进化,但缺乏直接的证据. 在小鼠中,一种人类特异性的DNA序列 (HACNS1) 增强了四肢发育,特别是手腕和指,提供了关键的进化见解.

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Dissection of Enhancer Function Using Multiplex CRISPR-based Enhancer Interference in Cell Lines

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科学领域:

进化生物学是进化的生物学.
发育生物学是发展生物学.
遗传学遗传学是一个

背景情况:

基因调节的变化被假设是推动人类进化发展的.
对人类特异性发育调节功能的体内证据有限.

研究的目的:

调查快速进化的人类DNA序列HACNS1在发育过程中调节基因表达的体内功能.
为了确定HACNS1中人类特有的遗传变化是否赋予独特的肢体表达模式.

主要方法:

利用转基因小鼠研究人类HACNS1序列的功能.
将人类HACNS1的基因表达模式与来自黑猩猩和 rhesus macaque的正义序列进行比较.
创建了合成增强剂,具有针对人类的特定替代和祖先的反转序列,以确定功能模块.

主要成果:

人类HACNS1作为基因表达增强剂,在小鼠中具有独特的肢体表达域,包括手腕和指.
这种人类特有的肢体表达模式在两个发育阶段被观察到.
在HACNS1的81个基对模块中的13个特定的替代被确定为足以赋予人类特定的肢体表达域.

结论:

快速进化的人类HACNS1序列在体内调节肢体发育方面表现出功能的增长.
在HACNS1中,特定的人类基因替代是它在人类四肢发育中的独特作用的原因.
这项研究提供了体内证据,证明了调节元素进化在人类发育分歧中的作用.