Journal article
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C
Abstract
BackgroundA number of neurodevelopmental syndromes are caused by mutations in genes encoding proteins that normally function in epigenetic regulation. Identification of epigenetic alterations occurring in these disorders could shed light on molecular pathways relevant to neurodevelopment.ResultsUsing a genome-wide approach, we identified genes with significant loss of DNA methylation in blood of males with intellectual disability and mutations …
Authors
Grafodatskaya D; Chung BH; Butcher DT; Turinsky AL; Goodman SJ; Choufani S; Chen Y-A; Lou Y; Zhao C; Rajendram R
Journal
BMC Medical Genomics, Vol. 6, No. 1,
Publisher
Springer Nature
Publication Date
December 2013
DOI
10.1186/1755-8794-6-1
ISSN
1471-2350
Fields of Research (FoR)
Sustainable Development Goals (SDG)
Medical Subject Headings (MeSH)
Blood Cell CountBrainCalcium-Binding ProteinsChromosomes, Human, XChromosomes, Human, YCpG IslandsDNA MethylationEpigenesis, GeneticF-Box ProteinsFemaleHistone DemethylasesHistonesHumansMaleMutationOxidoreductases, N-DemethylatingPolycomb-Group ProteinsPromoter Regions, GeneticUbiquitin-Protein Ligase ComplexesUbiquitin-Protein Ligases