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Chapter 13 - Epigenetic basis of circadian rhythms and sleep disorders

from Section 2 - Geneticsof sleep and circadian rhythms

Published online by Cambridge University Press:  05 November 2013

By
Irfan A. Qureshi  and
Mark F. Mehler
Edited by
Paul Shaw ,
Mehdi Tafti  and
Michael J. Thorpy
Paul Shaw
Affiliation:
University of Washington, St Louis
Mehdi Tafti
Affiliation:
University of Lausanne
Michael J. Thorpy
Affiliation:
Sleep-Wake Disorders Center, Albert Einstein College of Medicine, New York
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Summary

This chapter provides an overview of the chief epigenetic mechanisms: DNA cytosine methylation and hydroxymethylation, histone protein post-translational modifications (PTMs) and higher-order chromatin remodeling, non-coding RNA (ncRNA) regulation, and RNA editing. High level of 5-methylcytosine (5mC) is found in gene regulatory regions and generally associated with transcriptional repression. This occurs because DNA methylation inhibits the transcriptional machinery from accessing DNA. Chromatin is implicated in a broad range of processes including transcriptional regulation, X chromosome inactivation (XCI), genomic imprinting, DNA replication and repair, and the maintenance of genomic integrity. RNA editing events can alter amino acids encoded by corresponding genomic DNA, alternative splicing patterns, and regulatory sequences and their associated interactions. Preliminary data suggest that DNA methylation is modulated by circadian rhythms. DNA methylation at specific genomic loci can play a role in the pathophysiology of sleep disorders.

Keywords

sleep electroencephalogramsleepinessparasomniaspolysomnographysleep disordersabnormal sleepgenetic epidemiologyheritability
Type
Chapter
Information
The Genetic Basis of Sleep and Sleep Disorders , pp. 127 - 138
Publisher: Cambridge University Press
Print publication year: 2013

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