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Diverse epigenetic mechanisms of human disease

Diverse epigenetic mechanisms of human disease
Diverse epigenetic mechanisms of human disease
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.
0066-4197
237-268
Brookes, Emily
425dafc2-111b-4f6c-9336-f720c4ef8cac
Shi, Yang
123f38c3-5fd5-42ea-95a4-695b1ebb668a
Brookes, Emily
425dafc2-111b-4f6c-9336-f720c4ef8cac
Shi, Yang
123f38c3-5fd5-42ea-95a4-695b1ebb668a

Brookes, Emily and Shi, Yang (2014) Diverse epigenetic mechanisms of human disease. Annual Review of Genetics, 48, 237-268. (doi:10.1146/annurev-genet-120213-092518).

Record type: Article

Abstract

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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Published date: 1 November 2014

Identifiers

Local EPrints ID: 472097
URI: http://eprints.soton.ac.uk/id/eprint/472097
ISSN: 0066-4197
PURE UUID: ae12ae87-cd30-4796-8175-90c419306673
ORCID for Emily Brookes: ORCID iD orcid.org/0000-0003-2175-4349

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Date deposited: 25 Nov 2022 17:40
Last modified: 17 Mar 2024 04:14

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Contributors

Author: Emily Brookes ORCID iD
Author: Yang Shi

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