Cell Cycle · 2004 · 248 citations · 0 references
Life SciencesCancer BiologyMolecular BiologyChromatin BiologyChromatin StructureMolecular OncologyCancer Genomic InstabilityChromatinDna DamageDna Damage SignalingDna Strand BreaksGenome InstabilityChromatin DamageChromatin Remodeling After Dna DamageChromatin Remodeling At Break SitesChromatin Remodeling In Dna Damage ResponseDouble-strand Break SignalingGenomic Instability SyndromesHistone H2ax PhosphorylationNijmegen Breakage Syndrome
The histone H2A variant, H2AX, is a core component of chromatin that is phosphorylated in chromatin flanking DNA double strand breaks (DSBs). Here, we summarize H2AX functions and outline a specific "anchoring" model, that can explain the translocation prone phenotype of H2AX-deficient and H2AX/p53-deficient mice. We also discuss how this model of H2AX function could account for some aspects of the genomic instability and cancer prone human phenotypes associated with Ataxia Telangiectasia (AT), Nijmegen Breakage Syndrome (NBS), Ataxia Telangiectasia Like Disorder (ATLD), and Bloom's Syndrome (BS).