A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.

ABSTRACT:

Background

Oxidation Resistance 1 (OXR1) gene is a highly conserved gene of the TLDc domain-containing family. OXR1 is involved in fundamental biological and cellular processes, including DNA damage response, antioxidant pathways, cell cycle, neuronal protection, and arginine methylation. In 2019, five patients from three families carrying four biallelic loss-of-function variants in OXR1 were reported to be associated with cerebellar atrophy. However, the impact of OXR1 on cellular functions and molecular mechanisms in the human brain is largely unknown. Notably, no human disease models are available to explore the pathological impact of OXR1 deficiency.

Results

We report a novel loss-of-function mutation in the TLDc domain of the human OXR1 gene, resulting in early-onset ep

SUBMITTER: Lin X 

PROVIDER: S-EPMC10540402 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature