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Genes 2015, 6(2), 325-352; doi:10.3390/genes6020325

PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein

1
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, K1H 8L6, Canada
2
Department of Biochemistry, Microbiology, and Immunology, Faculty of Medicine, University of Ottawa, Ontario, K1H 8M5, Canada
3
Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ontario, K1H 8M5, Canada
*
Author to whom correspondence should be addressed.
Academic Editor: Jessica Tyler
Received: 30 April 2015 / Revised: 12 June 2015 / Accepted: 16 June 2015 / Published: 19 June 2015
(This article belongs to the Special Issue Chromatin Dynamics)
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Abstract

The importance of chromatin regulation to human disease is highlighted by the growing number of mutations identified in genes encoding chromatin remodeling proteins. While such mutations were first identified in severe developmental disorders, or in specific cancers, several genes have been implicated in both, including the plant homeodomain finger protein 6 (PHF6) gene. Indeed, germline mutations in PHF6 are the cause of the Börjeson–Forssman–Lehmann X-linked intellectual disability syndrome (BFLS), while somatic PHF6 mutations have been identified in T-cell acute lymphoblastic leukemia (T-ALL) and acute myeloid leukemia (AML). Studies from different groups over the last few years have made a significant impact towards a functional understanding of PHF6 protein function. In this review, we summarize the current knowledge of PHF6 with particular emphasis on how it interfaces with a distinct set of interacting partners and its functional roles in the nucleoplasm and nucleolus. Overall, PHF6 is emerging as a key chromatin adaptor protein critical to the regulation of neurogenesis and hematopoiesis. View Full-Text
Keywords: AML; BFLS; hematopoiesis; neurogenesis; nucleolus; NuRD; PAF1; PHF6; T-ALL; XLID AML; BFLS; hematopoiesis; neurogenesis; nucleolus; NuRD; PAF1; PHF6; T-ALL; XLID
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Todd, M.A.; Ivanochko, D.; Picketts, D.J. PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein. Genes 2015, 6, 325-352.

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