Abstract
ATRX was identified over 20 years ago as the gene responsible for a rare developmental disorder characterized by α-thalassemia and intellectual disability. Similarities to the sucrose nonfermentable SNF2 type chromatin remodelers initially suggested a role in transcriptional regulation. However, over the last years, our knowledge of the epigenetic activities of ATRX has expanded steadily. Recent exciting discoveries have propelled ATRX into the limelight of chromatin and telomere biology, development and cancer research. This review summarizes recent breakthroughs in understanding ATRX function in heterochromatin structure, genome stability and its frequent dysregulation in a variety of cancers.
Keywords:
ATRX; DAXX; DNA replication; G quadruplexes; alternative lengthening of telomeres; cancer; chromatin; histone H3.3; p53; telomeres.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Adaptor Proteins, Signal Transducing / metabolism
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Animals
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Cell Transformation, Neoplastic / genetics
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Cell Transformation, Neoplastic / metabolism
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Chromatin Assembly and Disassembly
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Co-Repressor Proteins
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DNA Helicases / genetics*
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DNA Helicases / metabolism*
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G-Quadruplexes
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Gene Expression Regulation, Neoplastic
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Gene Silencing
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Genomic Instability
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Heterochromatin / genetics
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Heterochromatin / metabolism
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Humans
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Molecular Chaperones
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Multiprotein Complexes / metabolism
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Mutation
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Neoplasms / diagnosis
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Neoplasms / genetics*
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Neoplasms / metabolism*
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Nuclear Proteins / genetics*
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Nuclear Proteins / metabolism*
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Protein Binding
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Telomere Homeostasis
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X-linked Nuclear Protein
Substances
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Adaptor Proteins, Signal Transducing
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Co-Repressor Proteins
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DAXX protein, human
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Heterochromatin
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Molecular Chaperones
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Multiprotein Complexes
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Nuclear Proteins
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DNA Helicases
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ATRX protein, human
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X-linked Nuclear Protein