TY - JOUR
T1 - MYT1L in the making
T2 - emerging insights on functions of a neurodevelopmental disorder gene
AU - Chen, Jiayang
AU - Yen, Allen
AU - Florian, Colin P.
AU - Dougherty, Joseph D.
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85134595447&partnerID=8YFLogxK
U2 - 10.1038/s41398-022-02058-x
DO - 10.1038/s41398-022-02058-x
M3 - Review article
C2 - 35869058
AN - SCOPUS:85134595447
SN - 2158-3188
VL - 12
JO - Translational psychiatry
JF - Translational psychiatry
IS - 1
M1 - 292
ER -