Imprinting centers, chromatin structure, and disease |
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| Authors: | Soejima Hidenobu Wagstaff Joseph |
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| Institution: | Division of Molecular Biology and Genetics, Department of Biomolecular Sciences, Saga Medical School, Saga, Japan. |
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| Abstract: | Two regions that best exemplify the role of genetic imprinting in human disease are the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region in 15q11-q13 and the Beckwith-Wiedemann syndrome (BWS) region in 11p15.5. In both regions, cis-acting sequences known as imprinting centers (ICs) regulate parent-specific gene expression bidirectionally over long distances. ICs for both regions are subject to parent-specific epigenetic marking by covalent modification of DNA and histones. In this review, we summarize our current understanding of IC function and IC modification in these two regions. |
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| Keywords: | imprinting chromatin Angelman syndrome Prader–Willi syndrome Beckwith–Wiedemann syndrome histone methylation |
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