HIST1H3A
Hist1h3a: A Histone Variant Linked to Human Health and Disease
Description
Hist1h3a is a histone protein that plays a crucial role in chromatin organization and gene regulation. It is a variant of the histone H3 protein, which is one of the main proteins that make up the nucleosome, the fundamental unit of chromatin. Hist1h3a is specifically associated with the linker DNA between nucleosomes, where it helps to maintain the chromatin structure and regulate gene expression.
Associated Diseases
Mutations in HIST1H3A, the gene that encodes Hist1h3a, have been linked to several human diseases, including:
- Glioma: Gliomas are tumors that arise from glial cells in the brain and spinal cord. Mutations in HIST1H3A are common in certain types of gliomas, particularly diffuse midline gliomas (DMGs).
- Acute myeloid leukemia (AML): AML is a type of blood cancer that affects the bone marrow. Mutations in HIST1H3A are present in about 20-30% of AML cases, often in combination with other genetic alterations.
- Myeloid dysplastic syndrome (MDS): MDS is a bone marrow disorder that can lead to AML. Mutations in HIST1H3A are found in about 10% of MDS cases.
- Other cancers: Mutations in HIST1H3A have also been associated with other types of cancer, such as breast cancer, lung cancer, and lymphoma.
Did you Know ?
- According to the National Cancer Institute, gliomas with HIST1H3A mutations account for approximately 10% of all pediatric brain tumors.