Mellén et al. classified mouse neuronal cell types on the basis of profiles of 5-hydroxymethylcytosine (5hmC), 5-methylcytosine (5mC) and gene expression. They concluded that 5hmC is associated with active gene expression and accessible chromatin structure in ways that are distinct from non-neuronal cells. They also found that a mutant form of methyl-CpG-binding protein 2 (MECP2) that is associated with the neurodevelopmental disorder Rett's syndrome was defective for 5hmC, but not 5mC, binding. Thus, impaired reading of 5hmC marks might contribute to Rett's syndrome neuronal pathology.
ORIGINAL RESEARCH PAPER
Mellén, M. et al. MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system. Cell 151, 1417–1430 (2012)
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Burgess, D. Defective reading of 5hmC in Rett's syndrome. Nat Rev Genet 14, 79 (2013). https://doi.org/10.1038/nrg3423
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DOI: https://doi.org/10.1038/nrg3423
