ATRX The case of a peculiar chromatin remodeler

被引:56
作者
Ratnakumar, Kajan
Bernstein, Emily [1 ]
机构
[1] Mt Sinai Sch Med, Dept Oncol Sci, New York, NY USA
关键词
ATRX; histone variants; telomeres; alpha-globin; macroH2A and H3.3; MENTAL-RETARDATION SYNDROME; X SYNDROME PROTEIN; ALPHA-THALASSEMIA; ADD DOMAIN; HISTONE CHAPERONE; FREQUENT ATRX; STEM-CELLS; MUTATIONS; DAXX; H3.3;
D O I
10.4161/epi.23271
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The SWI/SNF-like chromatin remodeler ATRX has recently garnered renewed attention. ATRX mutations were first identified in patients bearing the syndrome after which it is named, alpha thalassemia/mental retardation, X-linked. While ATRX has long been implicated in transcriptional regulation through multiple mechanisms, recent studies have identified a role for ATRX in the regulation of histone variant deposition. In addition, current reports describe ATRX to be mutated at high percentages in multiple tumor types, suggestive of a potential 'driver' role in cancer. Here we discuss the numerous and seemingly diverse roles for ATRX in transcriptional regulation and histone deposition and suggest that ATRX's effects are mediated by its regulation of histones within the chromatin template.
引用
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页码:3 / 9
页数:7
相关论文
共 56 条
[1]   Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family [J].
Aapola, U ;
Shibuya, K ;
Scott, HS ;
Ollila, J ;
Vihinen, M ;
Heino, M ;
Shintani, A ;
Kawasaki, K ;
Minoshima, S ;
Krohn, K ;
Antonarakis, SE ;
Shimizu, N ;
Kudoh, J ;
Peterson, P .
GENOMICS, 2000, 65 (03) :293-298
[2]   Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX [J].
Argentaro, Anthony ;
Yang, Ji-Chun ;
Chapman, Lynda ;
Kowalczyk, Monika S. ;
Gibbons, Richard J. ;
Higgs, Douglas R. ;
Neuhaus, David ;
Rhodes, Daniela .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (29) :11939-11944
[3]   PHD fingers in human diseases: Disorders arising from misinterpreting epigenetic marks [J].
Baker, Lindsey A. ;
Allis, C. David ;
Wang, Gang G. .
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2008, 647 (1-2) :3-12
[4]   The Chromatin Remodelling Factor dATRX Is Involved in Heterochromatin Formation [J].
Bassett, Andrew R. ;
Cooper, Sarah E. ;
Ragab, Anan ;
Travers, Andrew A. .
PLOS ONE, 2008, 3 (05)
[5]   ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells [J].
Baumann, Claudia ;
De La Fuente, Rabindranath .
CHROMOSOMA, 2009, 118 (02) :209-222
[6]   The protein CTCF is required for the enhancer blocking activity of vertebrate insulators [J].
Bell, AC ;
West, AG ;
Felsenfeld, G .
CELL, 1999, 98 (03) :387-396
[7]   EMBRYONIC-FETAL ERYTHROID CHARACTERISTICS OF A HUMAN-LEUKEMIC CELL-LINE [J].
BENZ, EJ ;
MURNANE, MJ ;
TONKONOW, BL ;
BERMAN, BW ;
MAZUR, EM ;
CAVALLESCO, C ;
JENKO, T ;
SNYDER, EL ;
FORGET, BG ;
HOFFMAN, R .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (06) :3509-3513
[8]   Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association [J].
Bérubé, NG ;
Smeenk, CA ;
Picketts, DJ .
HUMAN MOLECULAR GENETICS, 2000, 9 (04) :539-547
[9]   Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein [J].
Cardoso, C ;
Timsit, S ;
Villard, L ;
Khrestchatisky, M ;
Fontès, M ;
Colleaux, L .
HUMAN MOLECULAR GENETICS, 1998, 7 (04) :679-684
[10]   Association of Age at Diagnosis and Genetic Mutations in Patients With Neuroblastoma [J].
Cheung, Nai-Kong V. ;
Zhang, Jinghui ;
Lu, Charles ;
Parker, Matthew ;
Bahrami, Armita ;
Tickoo, Satish K. ;
Heguy, Adriana ;
Pappo, Alberto S. ;
Federico, Sara ;
Dalton, James ;
Cheung, Irene Y. ;
Ding, Li ;
Fulton, Robert ;
Wang, Jianwin ;
Chen, Xiang ;
Becksfort, Jared ;
Wu, Jianrong ;
Billups, Catherine A. ;
Ellison, David ;
Mardis, Elaine R. ;
Wilson, Richard K. ;
Downing, James R. ;
Dyer, Michael A. .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2012, 307 (10) :1062-1071