The role of the FOXP family of transcription factors in ASD.
The role of the FOXP family of transcription factors in ASD.
复制标题
DOI：
10.3233/dma-2012-0919
复制
发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Konopka G
中科院分区：
文献类型：
--
作者：
Bowers JM;Konopka G
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部分未知。在这里，我们专注于FOXP家族的转录因子，因为有新的证据强烈地将这些基因与ASD和其他与ASD有关的基因联系起来。FOXP基因家族包括在中枢神经系统中表达的三个基因：FOXP 1、FOPX 2和FOXP 4。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FOXP基因的转录靶点，这些基因已被发现与语言相关，并可能在ASD的病理生理学中起重要作用。最后，我们将回顾目前正在使用的新兴动物模型，以研究在ASD神经病学的背景下FOXP基因的功能。基因表达和动物行为的结合对于阐明FOXP家族成员等基因如何在发育中的大脑框架内发挥关键作用至关重要。
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.