敲除故事：组蛋白 H3.3 在发育和疾病中的多功能作用。
Knockout tales: the versatile roles of histone H3.3 in development and disease.
机构信息
Department of Cell Biology and Human Anatomy, University of California Davis, Davis, CA, 95616, USA.
Institute for Pediatric Regenerative Medicine, Shriners Hospital for Children Northern California, Sacramento, CA, 95817, USA.
出版信息
Epigenetics Chromatin. 2023 Oct 10;16(1):38. doi: 10.1186/s13072-023-00512-8.
Histone variant H3.3 plays novel roles in development as compared to canonical H3 proteins and is the most commonly mutated histone protein of any kind in human disease. Here we discuss how gene targeting studies of the two H3.3-coding genes H3f3a and H3f3b have provided important insights into H3.3 functions including in gametes as well as brain and lung development. Knockouts have also provided insights into the important roles of H3.3 in maintaining genomic stability and chromatin organization, processes that are also affected when H3.3 is mutated in human diseases such as pediatric tumors and neurodevelopmental syndromes. Overall, H3.3 is a unique histone linking development and disease via epigenomic machinery.
组蛋白变体 H3.3 相较于经典 H3 蛋白在发育过程中发挥着新颖的作用，并且是人类疾病中任何类型中最常发生突变的组蛋白蛋白。在这里，我们将讨论 H3f3a 和 H3f3b 这两个编码 H3.3 的基因的基因靶向研究如何为 H3.3 功能提供了重要的见解，包括在配子以及大脑和肺部发育中的功能。敲除实验还提供了 H3.3 在维持基因组稳定性和染色质组织方面的重要作用的见解，这些过程在 H3.3 在儿科肿瘤和神经发育综合征等人类疾病中发生突变时也会受到影响。总的来说，H3.3 通过表观基因组机制将发育和疾病联系在一起，是一种独特的组蛋白。
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