增强剂的冗余性为哺乳动物的发育提供了表型强度
Marco Osterwalder1, Iros Barozzi1, Virginie Tissières2,3
1Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, California 94720, USA.
Nature
|February 9, 2018
概括
哺乳动物的基因组具有许多提供冗余功能的基因增强剂. 这种遗传冗余性确保了表型的强度,防止了个体增强剂丢失时的发育异常.
科学领域:
- 基因组学
- 发育生物学
- 分子生物学
背景情况:
- 哺乳动物的基因组含有大量的组织特异增强剂来调节基因表达.
- 这种复杂的监管网络的功能意义,特别是增强器冗余性,尚不清楚.
研究的目的:
- 在同一基因附近研究具有相似活动的多种增强剂的功能重要性.
- 要确定增强剂冗余性是否赋予功能丧失突变的表型强度.
主要方法:
- 使用基因组编辑来创建23个针对肢体发育增强剂的小鼠删除线.
- 执行单个和组合增强器删除.
- 来自29个小鼠发育组织的综合表观基因和转录基因数据.
主要成果:
- 删除单个肢体增强剂没有引起明显的形态变化.
- 移除双肢增强剂导致可辨认的肢体表型,表明功能冗余.
- 基因通常与表现出类似的时空活动的多种增强剂相关,提供了调节缓冲.
结论:
- 增强器冗余是哺乳动物基因组中普遍存在的特征.
- 通过缓冲单个增强剂的损失,这种冗余性提供了表型强度.
- 增强剂的冗余性确保了正常的基因表达,并防止在发育过程中产生有害的表型后果.
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