Ontology highlight
ABSTRACT:
SUBMITTER: Christian DL
PROVIDER: S-EPMC7716597 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Cell reports 20201101 8
Mutations in DNA methyltransferase 3A (DNMT3A) have been detected in autism and related disorders, but how these mutations disrupt nervous system function is unknown. Here, we define the effects of DNMT3A mutations associated with neurodevelopmental disease. We show that diverse mutations affect different aspects of protein activity but lead to shared deficiencies in neuronal DNA methylation. Heterozygous DNMT3A knockout mice mimicking DNMT3A disruption in disease display growth and behavioral a ...[more]