Department of Neuroscience, UT Southwestern Medical Center, Dallas, TX, USA.
Dis Markers. 2012;33(5):251-60. doi: 10.3233/DMA-2012-0919.
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.
自闭症谱系障碍（ASD）是一种神经发育疾病，具有复杂的遗传学基础；然而，导致这种疾病的基因仍然大部分未知。在这里，我们重点关注 FOXP 家族转录因子，因为有越来越多的证据强烈表明这些基因与 ASD 以及其他与 ASD 相关的基因有关。FOXP 家族的基因包括三个在中枢神经系统中表达的基因：FOXP1、FOXP2 和 FOXP4。这组独特的转录因子已知在大脑发育以及语言进化中具有功能。我们还将讨论其他基因，包括 FOXP 基因的转录靶标，这些基因已被发现与语言有关，并且可能在 ASD 的病理生理学中很重要。最后，我们将回顾目前正在使用的新兴动物模型，以研究 FOXP 基因在 ASD 症状学背景下的功能。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。
