title: Every amino acid matters: essential contributions of histone variants to mammalian development and disease.
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.
authors.affiliation: 1] Laboratory of Chromatin Biology and Epigenetics, The Rockefeller University, New York 10065, USA. [2].
authors.forename: Ian
authors.initials: I
authors.lastname: Maze
authors.affiliation: 1] Laboratory of Chromatin Biology and Epigenetics, The Rockefeller University, New York 10065, USA. [2].
authors.forename: Kyung-Min
authors.initials: KM
authors.lastname: Noh
authors.affiliation: Laboratory of Chromatin Biology and Epigenetics, The Rockefeller University, New York 10065, USA.
authors.forename: Alexey A
authors.initials: AA
authors.lastname: Soshnev
authors.affiliation: 1] Laboratory of Chromatin Biology and Epigenetics, The Rockefeller University, New York 10065, USA. [2].
authors.forename: C David
authors.initials: CD
authors.lastname: Allis
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001665:Binding Sites; D002843:Chromatin / Q000378:metabolism; D047108:Embryonic Development; D044127:Epigenesis, Genetic; D018507:Gene Expression Regulation, Developmental; D042822:Genomic Instability; D005854:Germ Cells / Q000378:metabolism; D006657:Histones / Q000737:chemistry / Q000502:physiology*; D006801:Humans; D020125:Mutation, Missense; D009369:Neoplasms / Q000235:genetics* / Q000378:metabolism; D015053:Zygote / Q000378:metabolism
chemical_list: D002843:Chromatin; D006657:Histones