HIST3H3
Histone 3.3 H3.3
Description
Histone 3.3 (H3.3) is a variant of the core histone H3, one of the five main histones that make up the nucleosome, the basic unit of chromatin. Unlike canonical histones, which are deposited during DNA replication, H3.3 is incorporated into chromatin independently of DNA replication, primarily through a process called replication-independent nucleosome assembly (RINA). This allows H3.3 to play a unique role in chromatin dynamics and gene regulation.
Associated Diseases
Dysregulation of H3.3 has been implicated in several diseases, including:
- Cancer: H3.3 mutations are found in various cancers, including chondroblastomas, glioblastomas, and medulloblastomas. These mutations often result in altered chromatin structure and gene expression, contributing to tumorigenesis.
- Neurodevelopmental Disorders: H3.3 mutations have been linked to neurodevelopmental disorders such as Kabuki syndrome, Kleefstra syndrome, and Cornelia de Lange syndrome. These mutations disrupt normal chromatin function and gene regulation, leading to developmental abnormalities.
- Cardiovascular Disease: H3.3 has been implicated in cardiovascular diseases, including atherosclerosis and heart failure. Dysregulation of H3.3 can alter chromatin structure in endothelial and cardiac muscle cells, leading to impaired function and disease development.
Did you Know ?
- Approximately 10-15% of the total histone H3 in human cells is H3.3.
