St George-Hyslop Frances, Kivisild Toomas, Livesey Frederick J
Zayed Centre for Research Into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Front Mol Neurosci. 2022 Oct 20;15:1017144. doi: 10.3389/fnmol.2022.1017144. eCollection 2022.
The contactin-associated protein-like 2 gene is associated with multiple neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability (ID), and specific language impairment (SLI). Experimental work has shown that is important for neuronal development and synapse formation. There is also accumulating evidence for the differential use of in the human cerebral cortex compared with other primates. Here, we review the current literature on , including what is known about its expression, disease associations, and molecular/cellular functions. We also review the evidence for its role in human brain evolution, such as the presence of eight human accelerated regions (HARs) within the introns of the gene. While progress has been made in understanding the function(s) of , more work is needed to clarify the precise mechanisms through which acts. Such information will be crucial for developing effective treatments for patients. It may also shed light on the longstanding question of what makes us human.
接触蛋白相关样蛋白2基因与多种神经发育障碍有关，包括自闭症谱系障碍（ASD）、智力残疾（ID）和特定语言障碍（SLI）。实验研究表明，该基因对神经元发育和突触形成很重要。与其他灵长类动物相比，人类大脑皮层中该基因的差异使用也有越来越多的证据。在这里，我们综述了关于该基因的当前文献，包括其表达、疾病关联以及分子/细胞功能的已知情况。我们还综述了其在人类大脑进化中的作用证据，例如该基因内含子中存在八个人类加速区（HARs）。虽然在理解该基因的功能方面已经取得了进展，但仍需要更多工作来阐明其作用的精确机制。这些信息对于为该基因相关患者开发有效治疗方法至关重要。它也可能有助于阐明是什么造就了人类这一长期存在的问题。
