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The role of the FOXP family of transcription factors in ASD.
Disease Markers Pub Date : 2012 , DOI: 10.3233/dma-2012-0919
J Michael Bowers 1 , Genevieve Konopka
Affiliation  

Autism spectrum disorders (ASD) is a neurodevelopmental disease with complex genetics; however, the genes that are responsible for this disease still remain mostly unknown. Here, we focus on the FOXP family of transcription factors as there is emerging evidence strongly linking these genes to ASD and other genes implicated in ASD. The FOXP family of genes includes three genes expressed in the central nervous system: FOXP1, FOPX2, and FOXP4. This unique group of transcription factors has known functions in brain development as well as the evolution of language. We will also discuss the other genes including transcriptional targets of FOXP genes that have been found to be associated with language and may be important in the pathophysiology of ASD. Finally, we will review the emerging animal models currently being used to study the function of the FOXP genes within the context of ASD symptomology. The combination of gene expression and animal behavior is critical for elucidating how genes such as the FOXP family members are key players within the framework of the developing brain.

中文翻译:

FOXP 转录因子家族在 ASD 中的作用。

自闭症谱系障碍 (ASD) 是一种具有复杂遗传学的神经发育疾病;然而,导致这种疾病的基因仍然大多是未知的。在这里,我们关注 FOXP 转录因子家族,因为有新的证据将这些基因与 ASD 和其他涉及 ASD 的基因密切相关。FOXP 基因家族包括三个在中枢神经系统中表达的基因:FOXP1、FOPX2 和 FOXP4。这组独特的转录因子在大脑发育和语言进化中具有已知的功能。我们还将讨论其他基因,包括已发现与语言相关并且可能在 ASD 病理生理学中很重要的 FOXP 基因的转录目标。最后,我们将回顾目前用于研究 ASD 症状背景下 FOXP 基因功能的新兴动物模型。基因表达和动物行为的结合对于阐明诸如 FOXP 家族成员之类的基因如何成为发育大脑框架内的关键参与者至关重要。
更新日期:2020-09-25
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