| Literature DB >> 28669576 |
Anshika Srivastava1, Brian McGrath2, Stephanie L Bielas3.
Abstract
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.Entities:
Keywords: Polycomb repression; histone monoubiquitination; neurodevelopment disorders; neurogenetics
Mesh:
Substances:
Year: 2017 PMID: 28669576 PMCID: PMC5562288 DOI: 10.1016/j.tig.2017.06.002
Source DB: PubMed Journal: Trends Genet ISSN: 0168-9525 Impact factor: 11.639