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首页> 外文期刊>Human Molecular Genetics >Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression
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Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression

机译：Arx中聚丙氨酸束扩张对神经发育和基因表达的差异作用

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Polyalanine (poly-A) tracts exist in 494 annotated proteins; to date, expansions in these tracts have been associated with nine human diseases. The pathogenetic mechanism by which a poly-A tract results in these various human disorders remains uncertain. To understand the role of this mutation type, we investigated the change in functional properties of the transcription factor Arx when it has an expanded poly-A tract (Arx E), a mutation associated with infantile spasms and intellectual disabilities in humans. We found that although Arx E functions normally in the dorsal brain, its function in subpallial-derived populations of neurons is compromised. These contrasting functions are associated with the misregulation of Arx targets through the loss of the ability of Arx E to interact with the Arx cofactor Tle1. Our data demonstrate a novel mechanism for poly-A expansion diseases: the misregulation of a subset of target genes normally regulated by a transcription factor.
机译：494种带注释的蛋白质中存在聚丙氨酸（poly-A）区;迄今为止，这些领域的扩张与九种人类疾病有关。聚A道导致这些各种人类疾病的致病机制仍不确定。为了解这种突变类型的作用，我们研究了转录因子Arx具有扩展的poly-A区域（Arx E）（一种与婴儿痉挛和人类智力障碍有关的突变）时功能特性的变化。我们发现，尽管Arx E在背脑中正常起作用，但是其在颅下来源的神经元群体中的功能却受到损害。这些相反的功能通过失去Arx E与Arx辅因子Tle1相互作用的能力而与Arx目标的失调相关。我们的数据证明了poly-A扩展疾病的新机制：正常情况下受转录因子调控的靶基因子集的失调。

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