Histone H2A Monoubiquitination in Neurodevelopmental Disorders

被引：24

作者：

Srivastava, Anshika ^{[1
]}

McGrath, Brian ^{[2
]}

Bielas, Stephanie L. ^{[1
,2
]}

机构：

[1] Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA

[2] Univ Michigan, Sch Med, Cell & Mol Biol Program, Ann Arbor, MI 48109 USA

来源：

TRENDS IN GENETICS | 2017年 / 33卷 / 08期

关键词：

EMBRYONIC STEM-CELLS; POLYCOMB GROUP PROTEINS; BOHRING-OPITZ SYNDROME; RNA-POLYMERASE-II; LENZ MICROPHTHALMIA SYNDROMES; GENE REGULATORY NETWORKS; REPRESSIVE COMPLEX 1; CHROMATIN-STRUCTURE; PRC1; COMPLEX; GENOME-WIDE;

D O I：

10.1016/j.tig.2017.06.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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

引用

页码：566 / 578

页数：13

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