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MYT1L in the making: emerging insights on functions of a neurodevelopmental disorder gene.

ABSTRACT: Large scale human genetic studies have shown that loss of function (LoF) mutations in MYT1L are implicated in neurodevelopmental disorders (NDDs). Here, we provide an overview of the growing number of published MYT1L patient cases, and summarize prior studies in cells, zebrafish, and mice, both to understand MYT1L's molecular and cellular role during brain development and consider how its dysfunction can lead to NDDs. We integrate the conclusions from these studies and highlight conflicting findings to reassess the current model of the role of MYT1L as a transcriptional activator and/or repressor based on the biological context. Finally, we highlight additional functional studies that are needed to understand the molecular mechanisms underlying pathophysiology and propose key questions to guide future preclinical studies.

SUBMITTER: Chen J

PROVIDER: S-EPMC9307810 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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MYT1L in the making: emerging insights on functions of a neurodevelopmental disorder gene.

Chen Jiayang J Yen Allen A Florian Colin P CP Dougherty Joseph D JD

Translational psychiatry 20220722 1

Large scale human genetic studies have shown that loss of function (LoF) mutations in MYT1L are implicated in neurodevelopmental disorders (NDDs). Here, we provide an overview of the growing number of published MYT1L patient cases, and summarize prior studies in cells, zebrafish, and mice, both to understand MYT1L's molecular and cellular role during brain development and consider how its dysfunction can lead to NDDs. We integrate the conclusions from these studies and highlight conflicting find ...[more]

PMID: 35869058

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