Anti-Histone H1E frameshift mutant

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).

KLH-conjugated Linear Peptide corresponding to the Unknown of Human Histone H1.

Quality Control Testing

Evaluated by Western Blotting in human oligodendroglioma cell line SCC163 stably expressing transgenic H1Efs-FLAG-HA.

Western Blotting Analysis: A 1:1,000 dilution of this antibody detected Histone H1E frameshift mutant in human oligodendroglioma cell line SCC163 stably expressing transgenic H1Efs-FLAG-HA.

Tested Applications

Immunofluorescence Analysis: A representative lot detected Histone H1E frameshift mutant in mESc and H1Eframeshift Knock-in cells (Courtesy of Prof. C. David Allis Lab at Rockefeller University).

Western Blotting Analysis: A 1:1,000 dilution from a representative lot detected Histone H1E frameshift mutant in Human WBC and mESC′s & various other cell lines (Courtesy of Prof. C. David Allis Lab at Rockefeller University).

Affinity Binding Assay: A representative lot of this antibody bound Histone H1E peptide with a KD of 1.0 x 10-12

in an affinity binding assay.

Note: Actual optimal working dilutions must be determined by end user as specimens, and experimental conditions may vary with the end user

Anti-Histone H1E frameshift mutant, Cat. No. ABE2922, is a rabbit polyclonal antibody that detects Histone H1E frameshift mutant and is tested for use in Affinity Binding Assay, Immunofluorescence, and Western Blotting.

This rabbit polyclonal antibody specifically detects Histone H1 with H1E frameshift mutation.

Purified rabbit polyclonal antibody in buffer containing 0.1 M Tris-Glycine (pH 7.4), 150 mM NaCl with 0.05% sodium azide.

Recommend storage at +2°C to +8°C. For long term storage antibodies can be kept at -20°C. Avoid repeated freeze-thaws.

Concentration: Please refer to the Certificate of Analysis for the lot-specific concentration.

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.