H2AX可能起到一个锚的作用，使断裂的染色体DNA末端紧密靠近。
H2AX may function as an anchor to hold broken chromosomal DNA ends in close proximity.
作者信息
Bassing Craig H, Alt Frederick W
机构信息
The CBR Institute for Biomedical Research, The Children's Hospital, Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
出版信息
Cell Cycle. 2004 Feb;3(2):149-53. doi: 10.4161/cc.3.2.689.
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).
组蛋白H2A变体H2AX是染色质的核心成分，在DNA双链断裂（DSB）侧翼的染色质中发生磷酸化。在此，我们总结了H2AX的功能，并概述了一个特定的“锚定”模型，该模型可以解释H2AX缺陷型和H2AX/p53缺陷型小鼠易发生易位的表型。我们还讨论了这种H2AX功能模型如何解释与共济失调毛细血管扩张症（AT）、尼曼-匹克氏病（NBS）、共济失调毛细血管扩张症样疾病（ATLD）和布卢姆氏综合征（BS）相关基因不稳定和癌症易患人类表型的某些方面。
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