Understanding the underlying molecular basis for disease can often be a prolonged and tortuous process with many false leads and blind alleys. Relating the cause of ATR-X syndrome to the function of the protein ATRX is a case in point. In this review we attempt to bring together the diverse biological phenomena associated with ATRX dysfunction with what has recently been discovered concerning the chromatin remodelling activity of this protein. This potentially casts light on how defective DNA replication/histone replacement can impact on transcription, telomere maintenance and also possibly chromosome segregation.

中文翻译：

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ATRX 和结构化 DNA 的复制。

了解疾病的潜在分子基础通常是一个漫长而曲折的过程，有许多错误的线索和死胡同。将 ATR-X 综合征的原因与蛋白质 ATRX 的功能联系起来就是一个很好的例子。在这篇综述中，我们试图将与 ATRX 功能障碍相关的各种生物学现象与最近发现的有关该蛋白质染色质重塑活性的现象结合起来。这可能揭示有缺陷的 DNA 复制/组蛋白置换如何影响转录、端粒维持以及可能的染色体分离。