HIST1H3F
Histone 1H3.3: A Critical Epigenetic Regulator
Histone 1H3.3 is a variant of the histone H3 protein, one of the key components of chromatin, the material that packages DNA inside cells. Unlike the canonical H3, which is incorporated into chromatin during DNA replication, H3.3 is deposited independently of DNA synthesis. This deposition is essential for a variety of cellular processes, including DNA repair, transcriptional regulation, and cell differentiation.
Description
The H3.3 protein is encoded by the H3F3A and H3F3B genes. It has a similar overall structure to the canonical H3, but it differs in its sequence at the N-terminal tail. These differences give H3.3 unique properties that allow it to be deposited into chromatin in a different manner than H3.
Associated Diseases
Mutations in the H3F3A and H3F3B genes have been linked to a number of human diseases, including:
- Pedigree cancer syndrome
- Chondrodysplasia with microcephaly
- Glioma
- Overgrowth syndromes
- Intellectual disability
These diseases are caused by abnormal deposition or function of H3.3, which can disrupt gene expression and lead to cellular dysfunction.
Did you Know ?
Approximately 1 in 100,000 individuals is affected by a mutation in the H3F3A or H3F3B genes. This makes these diseases relatively rare, but they can have a profound impact on the lives of those affected.
