Article
De novo mutation in RING1 with epigenetic effects on neurodevelopment.
Proceedings of the National Academy of Sciences of the United States of America - 13 Feb 2018
Pierce Sarah B, Stewart Mikaela D, Gulsuner Suleyman, Walsh Tom, Dhall Abhinav, McClellan Jon M, Klevit Rachel E, King Mary-Claire
Abstract excerpt
RING1 is an E3-ubiquitin ligase that is involved in epigenetic control of transcription during development. It is a component of the polycomb repressive complex 1, and its role in that complex is to ubiquitylate histone H2A. In a 13-year-old girl with syndromic neurodevelopmental disabilities, we identified a de novo mutation, RING1 p.R95Q, which alters a conserved arginine residue in the catalytic RING domain....
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