期刊
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE
卷 7, 期 3, 页码 -出版社
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/cshperspect.a026567
关键词
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资金
- National Council of Science and Technology (CONACyT) [239663, CVU 257385]
- National Cancer Institute (NCI) [T32-CA078207]
- National Institutes of Health (NIH) [EY014867, EY018599, CA168875]
- NCI [CA21765]
- American Lebanese Syrian Associated Charities (ALSAC)
- Alex's Lemonade Stand Foundation for Childhood Cancer
- St. Baldrick's Foundation
Recent genome sequencing efforts in a variety of cancers have revealed mutations and/or structural alterations in ATRX and DAXX, which together encode a complex that deposits histone variant H3.3 into repetitive heterochromatin. These regions include retrotransposons, pericentric heterochromatin, and telomeres, the latter of which show deregulation in ATRX/DAXX-mutant tumors. Interestingly, ATRX and DAXX mutations are often found in pediatric tumors, suggesting a particular developmental context in which these mutations drive disease. Here we review the functions of ATRX and DAXX in chromatin regulation as well as their potential contributions to tumorigenesis. We place emphasis on the chromatin remodeler ATRX, which is mutated in the developmental disorder for which it is named, a-thalassemia, mental retardation, X-linked syndrome, and at high frequency in a number of adult and pediatric tumors.
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