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Article

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.

Genome biology - 15 Jan 2024

Luo Hongyu, Lao Linjiang, Au Kit Sing, Northrup Hope, He Xiao, Forget Diane, Gauthier Marie-Soleil, Coulombe Benoit, Bourdeau Isabelle, Shi Wei, Gagliardi Lucia, Fragoso Maria Candida Barisson Villares, Peng Junzheng, Wu Jiangping

Abstract excerpt

BACKGROUND: Neural tube defects (NTDs) are caused by genetic and environmental factors. ARMC5 is part of a novel ubiquitin ligase specific for POLR2A, the largest subunit of RNA polymerase II (Pol II). RESULTS: We find that ARMC5 knockout mice have increased incidence of NTDs, such as spina bifida and exencephaly. Surprisingly, the absence of ARMC5 causes the accumulation of not only POLR2A but also most of the...

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Identifiers

PMID: 38225631
DOI: 10.1186/s13059-023-03147-w
PMCID: PMC10789052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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