Trends in Genetics ( IF 13.6 ) Pub Date : 2017-06-29 , DOI: 10.1016/j.tig.2017.06.002 Anshika Srivastava 1 , Brian McGrath 2 , Stephanie L Bielas 3
Covalent histone modifications play an essential role in gene regulation and cellular specification required for multicellular organism development. Monoubiquitination of histone H2A (H2AUb1) is a reversible transcriptionally repressive mark. Exchange of histone H2A monoubiquitination and deubiquitination reflects the succession of transcriptional profiles during development required to produce cellular diversity from pluripotent cells. Germ-line pathogenic variants in components of the H2AUb1 regulatory axis are being identified as the genetic basis of congenital neurodevelopmental disorders. Here, we review the human genetics findings coalescing on molecular mechanisms that alter the genome-wide distribution of this histone modification required for development.
中文翻译:
神经发育障碍中的组蛋白 H2A 单泛素化
共价组蛋白修饰在多细胞生物发育所需的基因调控和细胞规范中发挥着重要作用。组蛋白 H2A (H2AUb1) 的单泛素化是一种可逆的转录抑制标记。组蛋白 H2A 单泛素化和去泛素化的交换反映了发育过程中从多能细胞产生细胞多样性所需的转录谱的连续性。 H2AUb1 调节轴组成部分的种系致病性变异被确定为先天性神经发育障碍的遗传基础。在这里,我们回顾了人类遗传学的发现,这些发现结合了改变发育所需的组蛋白修饰的全基因组分布的分子机制。