HIST1H2BE
HIST1H2BE: A Key Player in Chromatin Remodeling and Gene Regulation
Introduction
HIST1H2BE, also known as histone H2B type 1-H, is a core histone protein that plays a critical role in chromatin remodeling and gene regulation. It is a component of the histone octamer, which provides the structural framework for DNA packaging into nucleosomes. Changes in HIST1H2BE expression and post-translational modifications have been implicated in various diseases, including cancer and developmental disorders.
Description
HIST1H2BE is a highly conserved protein consisting of 128 amino acids. It shares significant sequence homology with other histone H2B proteins, particularly in the N-terminal tail region. The N-terminal tail is a flexible domain that extends beyond the nucleosome core and is subject to various post-translational modifications, such as methylation, acetylation, and phosphorylation. These modifications alter the chromatin structure, affecting gene accessibility and transcription.
Associated Diseases
Aberrant HIST1H2BE expression or modifications have been linked to several diseases:
- Cancer: HIST1H2BE overexpression has been observed in various cancers, including breast cancer, lung cancer, and leukemia. Altered HIST1H2BE modifications, such as hypermethylation, have also been implicated in cancer development and progression.
- Neurological disorders: Mutations in HIST1H2BE have been associated with a range of neurological disorders, including autism spectrum disorder, intellectual disability, and neurodegenerative diseases like Alzheimer's disease.
- Immunological disorders: HIST1H2BE modifications have been linked to immune system regulation. Abnormal HIST1H2BE expression or modifications can lead to autoimmune diseases, inflammatory disorders, and allergies.
Did you Know ?
According to a study published in the journal Nature Genetics, mutations in HIST1H2BE were found in approximately 1.5% of autism spectrum disorder patients, highlighting the potential significance of this protein in neurodevelopmental disorders.