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

St. George-Hyslop, F; Kivisild, T; Livesey, FJ; (2022) The role of contactin-associated protein-like 2 in neurodevelopmental disease and human cerebral cortex evolution. Frontiers in Molecular Neuroscience , 15 , Article 1017144. 10.3389/fnmol.2022.1017144. Green open access

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Abstract

The contactin-associated protein-like 2 (CNTNAP2) 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 CNTNAP2 is important for neuronal development and synapse formation. There is also accumulating evidence for the differential use of CNTNAP2 in the human cerebral cortex compared with other primates. Here, we review the current literature on CNTNAP2, 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 CNTNAP2, more work is needed to clarify the precise mechanisms through which CNTNAP2 acts. Such information will be crucial for developing effective treatments for CNTNAP2 patients. It may also shed light on the longstanding question of what makes us human.

Type: Article
Title: The role of contactin-associated protein-like 2 in neurodevelopmental disease and human cerebral cortex evolution
Location: Switzerland
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fnmol.2022.1017144
Publisher version: https://doi.org/10.3389/fnmol.2022.1017144
Language: English
Additional information: Copyright © 2022 St. George-Hyslop, Kivisild and Livesey. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (http://creativecommons.org/licenses/by/4.0/). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Keywords: CNTNAP2, autism (ASD), cerebral cortex, genetics, neurodevelopmental disorders
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10160268
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