HIST1H2AM
Histone H2A.M: The Epigenetic Regulator with Far-Reaching Implications
Description
Histone H2A.M is a variant of the core histone protein H2A found in eukaryotic cells. It plays a crucial role in gene regulation and chromatin structure, influencing cellular processes such as development, differentiation, and disease.
H2A.M differs from canonical H2A by a specific amino acid substitution at position 119, where a glutamine (Q) in H2A is replaced by a lysine (K) in H2A.M. This subtle change alters the charge and molecular properties of the protein, affecting its interactions with chromatin and regulatory factors.
Associated Diseases
Mutations and alterations in H2A.M have been linked to several human diseases, including:
- Cancer: H2A.M mutations have been identified in various types of cancer, including myeloid malignancies, lymphoma, and solid tumors. These mutations often result in abnormal chromatin structure and impaired gene expression, contributing to cancer development and progression.
- Developmental disorders: H2A.M dysregulation has been associated with neurodevelopmental disorders such as autism spectrum disorder and intellectual disability. These disorders involve disruptions in brain development and cognitive function.
- Cardiovascular disease: H2A.M modifications have been implicated in the development and progression of cardiovascular diseases, including heart failure and atherosclerosis. Alterations in chromatin structure can affect the expression of genes involved in cardiac function and vascular homeostasis.
Did you Know ?
Approximately 15% of pediatric acute myeloid leukemia (AML) cases harbor H2A.M mutations, making it one of the most common genetic alterations in this type of cancer.
