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Beschreibung

Histone 1, H1e (UniProt: A3R0T8, also known as Histone H1.4, HIST1H1E) is encoded by the HIST1H1E (also known as hCG_16457421) gene (Gene ID: 3008) in human. Histones have been classified under five major classes. The core histones H2A, H2B, H3, and H4 constitute the protein components of nucleosome core particles and histone H1 is a linker histone that plays a role in chromatin folding. Depletion of histone H1 can cause dramatic changes in chromatin structure, global nucleosome spacing, and reduced chromatin compaction. Pathogenic mutations in HIST1H1E gene result in the formation of histone H1 that is less effective in neutralizing negatively charged linker DNA and display reduced DNA binding and protein-protein interactions due to truncation in key residues. These mutations are reported to result in a shift in reading frame in the C-terminal region and produce truncated proteins. Frameshift mutations in HIST1H1E have been linked to Rahman syndrome that is manifested in overgrowth with intellectual disabilities (OGID) in early infancy. Subjects with Rahman syndrome display a global tendency in reduction of methylation state. (Ref.: Andrea Ciolfi, et al. (2020). Clinical Epigenetics 12, Article 7, Tatton-Brown , K., et al. (2017). Am. J. Hum. Genet. 100(5), 725-736).