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

doi:10.1186/s13059-023-03037-1

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Article

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

Genome biology - 29 Sept 2023

Lin Xiaolin, Wang Wei, Yang Mingyi, Damseh Nadirah, de Sousa Mirta Mittelstedt Leal, Jacob Fadi, Lång Anna, Kristiansen Elise, Pannone Marco, Kissova Miroslava, Almaas Runar, Kuśnierczyk Anna, Siller Richard, Shahrour Maher, Al-Ashhab Motee, Abu-Libdeh Bassam, Tang Wannan, Slupphaug Geir, Elpeleg Orly, Bøe Stig Ove, Eide Lars, Sullivan Gareth J, Rinholm Johanne Egge, Song Hongjun, Ming Guo-Li, van Loon Barbara, Edvardson Simon, Ye Jing, Bjørås Magnar

Abstract excerpt

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...

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PMID: 37773136
DOI: 10.1186/s13059-023-03037-1
PMCID: PMC10540402

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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