Journal
ANNUAL REVIEW OF GENETICS, VOL 48
Volume 48, Issue -, Pages 237-268Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genet-120213-092518
Keywords
chromatin; transcription; cancer; neurodevelopment; fetal programming
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Funding
- NCI NIH HHS [CA118478] Funding Source: Medline
- NICHD NIH HHS [P30 HD018655, U54 HD090255] Funding Source: Medline
- NIMH NIH HHS [MH096066] Funding Source: Medline
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Epigenetic control of gene expression programs is essential for normal organismal development and cellular function. Abrogation of epigenetic regulation is seen in many human diseases, including cancer and neuropsychiatric disorders, where it can affect disease etiology and progression. Abnormal epigenetic profiles can serve as biomarkers of disease states and predictors of disease outcomes. Therefore, epigenetics is a key area of clinical investigation in diagnosis, prognosis, and treatment. In this review, we give an overarching view of epigenetic mechanisms of human disease. Genetic mutations in genes that encode chromatin regulators can cause monogenic disease or are incriminated in polygenic, multifactorial diseases. Environmental stresses can also impact directly on chromatin regulation, and these changes can increase the risk of, or directly cause, disease. Finally, emerging evidence suggests that exposure to environmental stresses in older generations may predispose subsequent generations to disease in a manner that involves the transgenerational inheritance of epigenetic information.
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