Galindo-Riera, Natalia, Newbold, Sylvia Adriana, Sledziowska, Monika, Llinares-Benadero, Cristina, Griffiths, Jessica, Mire, Erik ![]() ![]() ![]() |
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Abstract
Mutations in the X-linked cell adhesion protein PCDH19 lead to seizures, cognitive impairment, and other behavioral comorbidities when present in a mosaic pattern. Neither the molecular mechanisms underpinning this disorder nor the function of PCDH19 itself are well understood. By combining RNA in situ hybridization with immunohistochemistry and analyzing single-cell RNA sequencing datasets, we reveal Pcdh19 expression in cortical interneurons and provide a first account of the subtypes of neurons expressing Pcdh19/PCDH19, both in the mouse and the human cortex. Our quantitative analysis of the Pcdh19 mutant mouse exposes subtle changes in cortical layer composition, with no major alterations of the main axonal tracts. In addition, Pcdh19 mutant animals, particularly females, display preweaning behavioral changes, including reduced anxiety and increased exploratory behavior. Importantly, our experiments also reveal an effect of the social environment on the behavior of wild-type littermates of Pcdh19 mutant mice, which show alterations when compared with wild-type animals not housed with mutants.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Biosciences |
Additional Information: | This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International license |
Publisher: | Society for Neuroscience |
ISSN: | 2373-2822 |
Funders: | Wellcome Trust |
Date of First Compliant Deposit: | 16 September 2021 |
Date of Acceptance: | 24 June 2021 |
Last Modified: | 20 Dec 2023 10:23 |
URI: | https://orca.cardiff.ac.uk/id/eprint/144178 |
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