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

被引:250
作者
Maze, Ian [1 ]
Noh, Kyung-Min [1 ]
Soshnev, Alexey A. [1 ]
Allis, C. David [1 ]
机构
[1] Rockefeller Univ, Lab Chromatin Biol & Epigenet, New York, NY 10065 USA
关键词
CENTROMERE PROTEIN-A; NUCLEOSOME-FREE REGIONS; INACTIVE X-CHROMOSOME; LINKER HISTONE; H3; VARIANTS; PERICENTRIC HETEROCHROMATIN; GENOMIC INSTABILITY; IONIZING-RADIATION; DRIVER MUTATIONS; H1; VARIANT;
D O I
10.1038/nrg3673
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:259 / 271
页数:13
相关论文
共 154 条
[11]   A Distinct Spectrum of Copy Number Aberrations in Pediatric High-Grade Gliomas [J].
Bax, Dorine A. ;
Mackay, Alan ;
Little, Suzanne E. ;
Carvalho, Diana ;
Viana-Pereira, Marta ;
Tamber, Narinder ;
Grigoriadis, Anita E. ;
Ashworth, Alan ;
Reis, Rui M. ;
Ellison, David W. ;
Al-Sarraj, Safa ;
Hargrave, Darren ;
Jones, Chris .
CLINICAL CANCER RESEARCH, 2010, 16 (13) :3368-3377
[12]   Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone [J].
Behjati, Sam ;
Tarpey, Patrick S. ;
Presneau, Nadege ;
Scheipl, Susanne ;
Pillay, Nischalan ;
Van Loo, Peter ;
Wedge, David C. ;
Cooke, Susanna L. ;
Gundem, Gunes ;
Davies, Helen ;
Nik-Zainal, Serena ;
Martin, Sancha ;
McLaren, Stuart ;
Goodie, Victoria ;
Robinson, Ben ;
Butler, Adam ;
Teague, Jon W. ;
Halai, Dina ;
Khatri, Bhavisha ;
Myklebost, Ola ;
Baumhoer, Daniel ;
Jundt, Gernot ;
Hamoudi, Rifat ;
Tirabosco, Roberto ;
Amary, M. Fernanda ;
Futreal, P. Andrew ;
Stratton, Michael R. ;
Campbell, Peter J. ;
Flanagan, Adrienne M. .
NATURE GENETICS, 2013, 45 (12) :1479-U105
[13]   The nucleosome: a little variation goes a long way [J].
Bernstein, Emily ;
Hake, Sandra B. .
BIOCHEMISTRY AND CELL BIOLOGY, 2006, 84 (04) :505-517
[14]  
Biermann K, 2007, ANTICANCER RES, V27, P3091
[15]   Epigenetic Centromere Propagation and the Nature of CENP-A Nucleosomes [J].
Black, Ben E. ;
Cleveland, Don W. .
CELL, 2011, 144 (04) :471-479
[16]   H2AZ2.2 is an alternatively spliced histone H2A.Z variant that causes severe nucleosome destabilization [J].
Boenisch, Clemens ;
Schneider, Katrin ;
Puenzeler, Sebastian ;
Wiedemann, Sonja M. ;
Bielmeier, Christina ;
Bocola, Marco ;
Eberl, H. Christian ;
Kuegel, Wolfgang ;
Neumann, Juergen ;
Kremmer, Elisabeth ;
Leonhardt, Heinrich ;
Mann, Matthias ;
Michaelis, Jens ;
Schermelleh, Lothar ;
Hake, Sandra B. .
NUCLEIC ACIDS RESEARCH, 2012, 40 (13) :5951-5964
[17]   Supratentorial high-grade astrocytoma and diffuse brainstem glioma: Two challenges for the pediatric oncologist [J].
Broniscer, A ;
Gajjar, A .
ONCOLOGIST, 2004, 9 (02) :197-206
[18]   Repressive and active histone methylation mark distinct promoters in human and mouse spermatozoa [J].
Brykczynska, Urszula ;
Hisano, Mizue ;
Erkek, Serap ;
Ramos, Liliana ;
Oakeley, Edward J. ;
Roloff, Tim C. ;
Beisel, Christian ;
Schuebeler, Dirk ;
Stadler, Michael B. ;
Peters, Antoine H. F. M. .
NATURE STRUCTURAL & MOLECULAR BIOLOGY, 2010, 17 (06) :679-U47
[19]   The histone variant macroH2A is an epigenetic regulator of key developmental genes [J].
Buschbeck, Marcus ;
Uribesalgo, Iris ;
Wibowo, Indra ;
Rue, Pau ;
Martin, David ;
Gutierrez, Arantxa ;
Morey, Lluis ;
Guigo, Roderic ;
Lopez-Schier, Hernan ;
Di Croce, Luciano .
NATURE STRUCTURAL & MOLECULAR BIOLOGY, 2009, 16 (10) :1074-U95
[20]   Endogenous mammalian histone H3.3 exhibits chromatin-related functions during development [J].
Bush, Kelly M. ;
Yuen, Benjamin T. K. ;
Barrilleaux, Bonnie L. ;
Riggs, John W. ;
O'Geen, Henriette ;
Cotterman, Rebecca F. ;
Knoepfler, Paul S. .
EPIGENETICS & CHROMATIN, 2013, 6