The role of contactin-associated protein-like 2 in neurodevelopmental disease and human cerebral cortex evolution

• Published in: Frontiers in molecular neuroscience Vol. 15; p. 1017144
• Main Authors: St George-Hyslop, Frances, Kivisild, Toomas, Livesey, Frederick J
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Research Foundation 20.10.2022; Frontiers Media S.A
• Subjects: Amino acids; Autism; autism (ASD); Binding sites; Brain; Cell adhesion & migration; Cerebral cortex; CNTNAP2; Contactin; Evolution; genetics; Intellectual disabilities; Introns; Kinases; Localization; Monkeys & apes; Mutation; Nervous system; Neurodevelopmental disorders; Neuroscience; Primates; Proteins; Synaptogenesis; autism (ASD); CNTNAP2; cerebral cortex; genetics; neurodevelopmental disorders
• ISSN: 1662-5099; 1662-5099
• DOI: 10.3389/fnmol.2022.1017144

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.