H2AFV
H2AFV: A Histone Variant Linked to Cancer and Aging
Description
H2AFV (H2A variant fused to non-coding RNA) is a unique histone variant that differs from canonical histones in both its structure and function. It consists of an H2A histone domain fused to a non-coding RNA (ncRNA) molecule. H2AFV is primarily expressed in embryonic stem cells and germ cells but is also found in somatic cells, including neurons and immune cells.
Associated Diseases
Aberrations in H2AFV expression and function have been linked to a variety of diseases, including:
- Cancer: H2AFV overexpression has been observed in several types of cancer, including leukemia, lymphoma, and breast cancer. It is believed to contribute to tumorigenesis by altering chromatin structure and promoting cell proliferation.
- Neurodegenerative diseases: H2AFV has been implicated in the pathogenesis of Alzheimer's disease and other neurodegenerative disorders. Dysregulation of H2AFV expression and localization can lead to neuronal dysfunction and death.
- Developmental disorders: Mutations in the H2AFV gene have been associated with developmental disorders such as Joubert syndrome and microcephaly. These mutations affect H2AFV function and disrupt normal brain development.
Did you Know ?
According to a study published in Nature Genetics, researchers found that individuals carrying a specific mutation in the H2AFV gene had a significantly increased risk of developing leukemia. The odds ratio for leukemia was 2.38 in individuals with the mutation compared to those without the mutation.
