The indispensable role of Mediator complex subunit 27 during neurodevelopment.

ABSTRACT:

Background

MED27 is a subunit of the Mediator complex, a highly conserved protein assembly that initiates transcription by bridging transcription factors bound at enhancers to RNA polymerase II transcription machinery at promoters. Recently, we identified an autosomal recessive neurodevelopmental disorder (NDD) caused by loss-of-function (LoF) variants in the MED27 gene. Affected individuals exhibit global developmental delay, intellectual disability, dystonia, and cerebellar atrophy, highlighting the neuronal system's vulnerability to MED27 disruptions.

Results

To investigate the pathogenicity mechanisms and essential roles of this gene during neurodevelopment, we generated multiple zebrafish lines with LoF mutations in med27. Homozygous mutant zebrafish displayed severe de

SUBMITTER: Li X 

PROVIDER: S-EPMC12172316 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature