Epimutation

Epimutation is a heritable change in gene expression that does not involve changes to the underlying DNA sequence. It is a change in phenotype without a change in genotype, which in turn affects how cells read the genes. Epimutation is sometimes used to describe a mutation that is present in a parent's germ cells, but not in their somatic cells.

Overview

Epimutations can occur spontaneously or be induced by environmental factors. They can be passed on to offspring, but unlike genetic mutations, they are often reversible. Epimutations can affect a variety of biological processes, including development, aging, and the immune response. They can also play a role in disease, including cancer and neurological disorders.

Mechanisms

Epimutations can occur through several mechanisms, including DNA methylation, histone modification, and non-coding RNA molecules. DNA methylation involves the addition of a methyl group to the DNA molecule, which can affect gene expression. Histone modification involves changes to the proteins that DNA is wrapped around, which can affect how tightly the DNA is wound and thus its accessibility to the transcription machinery. Non-coding RNA molecules can also regulate gene expression.

Role in Disease

Epimutations can play a role in a variety of diseases. For example, in cancer, epimutations can lead to the overexpression of oncogenes or the underexpression of tumor suppressor genes. In neurological disorders, epimutations can affect the expression of genes involved in brain function.

See Also

• DNA methylation
• Histone modification
• Non-coding RNA
• Oncogene
• Tumor suppressor gene

References

Epimutation Resources
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