TY - JOUR

T1 - Phf6 degrees of separation

T2 - The multifaceted roles of a chromatin adaptor protein

AU - Todd, Matthew A.M.

AU - Ivanochko, Danton

AU - Picketts, David J.

N1 - Publisher Copyright: © 2015 by the authors; licensee MDPI, Basel, Switzerland.

PY - 2015/6/19

Y1 - 2015/6/19

N2 - 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.

AB - 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.

KW - AML

KW - BFLS

KW - Hematopoiesis

KW - Neurogenesis

KW - Nucleolus

KW - NuRD

KW - PAF1

KW - PHF6

KW - T-ALL

KW - XLID

UR - http://www.scopus.com/inward/record.url?scp=84934764919&partnerID=8YFLogxK

U2 - 10.3390/genes6020325

DO - 10.3390/genes6020325

M3 - Review

AN - SCOPUS:84934764919

VL - 6

SP - 6

JO - Genes

JF - Genes

SN - 2073-4425

IS - 2

ER -