KMT2C knockout generates ASD-like behaviors in mice

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dc.contributor.authorBrauer, Bastian
dc.contributor.authorMerino-Veliz, Nicolas
dc.contributor.authorAhumada-Marchant, Constanza
dc.contributor.authorArriagada, Gloria
dc.contributor.authorBustos, Fernando J.
dc.date.accessioned2024-05-17T22:37:30Z
dc.date.available2024-05-17T22:37:30Z
dc.date.issued2023
dc.descriptionIndexación: Scopus.
dc.descriptionFunding This work was supported by: ANID Fondecyt Iniciacion 11180540 (FJB), ANID PAI 77180077 (FJB), ANID-FONDECYT 1220480 to GA, UNAB DI-02-22/REG (FJB), DI-03-21/APP UNAB (BB).
dc.description.abstractNeurodevelopmental disorders have been associated with genetic mutations that affect cellular function, including chromatin regulation and epigenetic modifications. Recent studies in humans have identified mutations in KMT2C, an enzyme responsible for modifying histone tails and depositing H3K4me1 and H3K4me3, as being associated with Kleefstra syndrome 2 and autism spectrum disorder (ASD). However, the precise role of KMT2C mutations in brain disorders remains poorly understood. Here we employed CRISPR/Cas9 gene editing to analyze the effects of KMT2C brain specific knockout on animal behavior. Knocking out KMT2C expression in cortical neurons and the mouse brain resulted in decreased KMT2C levels. Importantly, KMT2C brain specific knockout animals exhibited repetitive behaviors, social deficits, and intellectual disability resembling ASD. Our findings shed light on the involvement of KMT2C in neurodevelopmental processes and establish a valuable model for elucidating the cellular and molecular mechanisms underlying KMT2C mutations and their relationship to Kleefstra syndrome 2 and ASD. Copyright © 2023 Brauer, Merino-Veliz, Ahumada-Marchant, Arriagada and Bustos.
dc.description.urihttps://www.frontiersin.org/articles/10.3389/fcell.2023.1227723/full
dc.identifier.citationFrontiers in Cell and Developmental Biology. Volume 11. 2023. Article number 1227723
dc.identifier.doi10.3389/fcell.2023.1227723
dc.identifier.issn2296-634X
dc.identifier.urihttps://repositorio.unab.cl/handle/ria/56896
dc.language.isoen
dc.publisherFrontiers Media SA
dc.rights.licenseCC BY 4.0 DEED Attribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectASD
dc.subjectBehavior
dc.subjectCRISPR/Cas9
dc.subjectEpigenetics
dc.subjectKMT2C
dc.titleKMT2C knockout generates ASD-like behaviors in mice
dc.typeArtículo
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