Every amino acid matters: Essential contributions of histone variants to mammalian development and disease

Ian Maze, Kyung Min Noh, Alexey A. Soshnev, C. David Allis

Research output: Contribution to journalReview articlepeer-review

271 Scopus citations

Abstract

Despite a conserved role for histones as general DNA packaging agents, it is now clear that another key function of these proteins is to confer variations in chromatin structure to ensure dynamic patterns of transcriptional regulation in eukaryotes. The incorporation of histone variants is particularly important to this process. Recent knockdown and knockout studies in various cellular systems, as well as direct mutational evidence from human cancers, now suggest a crucial role for histone variant regulation in processes as diverse as differentiation and proliferation, meiosis and nuclear reprogramming. In this Review, we provide an overview of histone variants in the context of their unique functions during mammalian germ cell and embryonic development, and examine the consequences of aberrant histone variant regulation in human disease.

Original languageEnglish
Pages (from-to)259-271
Number of pages13
JournalNature Reviews Genetics
Volume15
Issue number4
DOIs
StatePublished - 2014
Externally publishedYes

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