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The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

机译:FOXP1和FOXP2在认知障碍中的独特和重叠表型谱

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摘要

Rare disruptions of FOXP2 have been strongly implicated in deficits in language development. Research over the past decade has suggested a role in the formation of underlying neural circuits required for speech. Until recently no evidence existed to suggest that the closely related FOXP1 gene played a role in neurodevelopmental processes. However, in the last few years, novel rare disruptions in FOXP1 have been reported in multiple cases of cognitive dysfunction, including intellectual disability and autism spectrum disorder, together with language impairment. As FOXP1 and FOXP2 form heterodimers for transcriptional regulation, one may assume that they co-operate in common neurodevelopmental pathways through the co-regulation of common targets. Here we compare the phenotypic consequences of FOXP1 and FOXP2 impairment, drawing on well-known studies from the past as well as recent exciting findings and consider what these tell us regarding the functions of these two genes in neural development.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-012-1193-z) contains supplementary material, which is available to authorized users.
机译:FOXP2的罕见破坏与语言开发的缺陷密切相关。过去十年的研究表明,在语音所需的基础神经回路的形成中发挥了作用。直到最近,没有证据表明紧密相关的FOXP1基因在神经发育过程中起作用。然而,在最近几年中,已经报道了在多种认知功能障碍病例中,FOXP1出现了罕见的新异常破坏,包括智力障碍和自闭症谱系障碍以及语言障碍。由于FOXP1和FOXP2形成异源二聚体用于转录调控,因此可以假定它们通过共同调控共同作用于共同的神经发育途径。在这里,我们根据过去的著名研究以及最近令人振奋的发现,比较了FOXP1和FOXP2损伤的表型后果,并考虑了这两个基因在神经发育中的功能告诉我们什么。本文(doi:10.1007 / s00439-012-1193-z)包含补充材料,授权用户可以使用。

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