Characterizing the Cellular Role of PHF6

Matthew Andrew Melville Todd
Defective chromatin remodeling proteins are associated with both germline and acquired human disease. PHF6 is encoded by an X-linked gene that is predominantly expressed in the brain and thymus. Structurally, PHF6 contains nuclear and nucleolar localization sequences as well as two ZaP domains, which bind dsDNA. Germline mutations in PHF6 are the cause of BFLS, an XLID, while somatic PHF6 mutations have been identified in T-ALL, AML, and CML. Indeed, screening of a pediatric cohort...
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