ATRX and DAXX: Mechanisms and Mutations.
Cold Spring Harb Perspect Med
; 7(3)2017 Mar 01.
Article
en En
| MEDLINE
| ID: mdl-28062559
ABSTRACT
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, α-thalassemia, mental retardation, X-linked syndrome, and at high frequency in a number of adult and pediatric tumors.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Proteínas Nucleares
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Talasemia alfa
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Discapacidad Intelectual Ligada al Cromosoma X
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Ensamble y Desensamble de Cromatina
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Proteínas Adaptadoras Transductoras de Señales
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Proteína Nuclear Ligada al Cromosoma X
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Neoplasias
Límite:
Adult
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Animals
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Child
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Humans
Idioma:
En
Revista:
Cold Spring Harb Perspect Med
Año:
2017
Tipo del documento:
Article