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首页> 外文期刊>Human mutation >Mutations in the chromatin-associated protein ATRX.
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Mutations in the chromatin-associated protein ATRX.

机译：染色质相关蛋白ATRX中的突变。

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摘要

ATRX belongs to the SNF2 family of proteins, many of which have been demonstrated to have chromatin remodeling activity. Constitution mutations in the X-encoded gene give rise to alpha thalassemia mental retardation (ATR-X) syndrome and a variety of related conditions that are often associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Acquired mutations in ATRX are observed in the preleukemic condition alpha thalassemia myelodysplastic syndrome (ATMDS). Mutations in ATRX have been shown to perturb gene expression and DNA methylation. This is a comprehensive report of 127 mutations including 32 reported here for the first time. Missense mutations are shown to cluster in the two main functional domains. The truncating mutations appear to be "rescued" to some degree and so it appears likely that most if not all constitutional ATRX mutations are hypomorphs.
机译：ATRX属于SNF2蛋白质家族，其中许多已被证明具有染色质重塑活性。 X编码基因中的体质突变会导致α地中海贫血智力低下（ATR-X）综合征和多种相关疾病，这些疾病通常与严重的发育迟缓，面部畸形，生殖器异常和α地中海贫血有关。在白血病前期α地中海贫血骨髓增生异常综合症（ATMDS）中观察到ATRX的获得性突变。已显示ATRX中的突变会干扰基因表达和DNA甲基化。这是127个突变的综合报告，其中32个是首次报告。错义突变显示聚集在两个主要功能域。截短的突变似乎在某种程度上被“拯救”了，因此似乎大部分（即使不是全部）结构性ATRX突变都是亚型。

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