Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Williams, Stephen R.; Zies, Deborah; Mullegama, Sureni V.; Grotewiel, Michael S.; Elsea, Sarah H.

doi:10.1016/j.ajhg.2012.04.013

Cited by 115Circadian rhythm and melatoninSleep and Wakefulness ResearchSleep and Work-Related Fatigue

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

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Williams, Stephen R., Zies, Deborah, Mullegama, Sureni V., Grotewiel, Michael S., Elsea, Sarah H.·2012·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2012.04.013PMC PMC3370274

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Abstract

Haploinsufficiency of RAI1 results in Smith-Magenis syndrome (SMS), a disorder characterized by intellectual disability, multiple congenital anomalies, obesity, neurobehavioral abnormalities, and a disrupted circadian sleep-wake pattern. An inverted melatonin rhythm (i.e., melatonin peaks during the day instead of at night) and associated sleep-phase disturbances in individuals with SMS, as well as a short-period circadian rhythm in mice with a chromosomal deletion of Rai1, support SMS as a circadian-rhythm-dysfunction disorder. However, the molecular cause of the circadian defect in SMS has not been described. The circadian oscillator temporally orchestrates metabolism, physiology, and behavior largely through transcriptional modulation. Data support RAI1 as a transcriptional regulator, but the genes it might regulate are largely unknown. Investigation into the role that RAI1 plays in the regulation of gene transcription and circadian maintenance revealed that RAI1 regulates the transcription of circadian locomotor output cycles kaput (CLOCK), a key component of the mammalian circadian oscillator that transcriptionally regulates many critical circadian genes. Data further show that haploinsufficiency of RAI1 and Rai1 in SMS fibroblasts and the mouse hypothalamus, respectively, results in the transcriptional dysregulation of the circadian clock and causes altered expression and regulation of multiple circadian genes, including PER2, PER3, CRY1, BMAL1, and others. These data suggest that heterozygous mutation of RAI1 and Rai1 leads to a disrupted circadian rhythm and thus results in an abnormal sleep-wake cycle, which can contribute to an abnormal feeding pattern and dependent cognitive performance. Finally, we conclude that RAI1 is a positive transcriptional regulator of CLOCK, pinpointing a novel and important role for this gene in the circadian oscillator.

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In human cells from patients with SMS and the mouse brain, RAI1 activates the transcription of CLOCK via direct binding to enhancer elements within intron 1 of the CLOCK gene, demonstrating a possible mechanism by which loss of RAI1 may result in circadian dysfunction at the molecular and cellular level.
“In human cells from patients with SMS and the mouse brain, RAI1 activates the transcription of CLOCK via direct binding to enhancer elements within intron 1 of the CLOCK gene135, demonstrating a possible mechanism by which loss of RAI1 may result in circadian dysfunction at the molecular and cellular level.”
From Rhythms of life: circadian disruption and brain disorders across the lifespan (2019) · cites this paper as [135]

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Authors: Williams, S. R., Zies, D., Mullegama, S. V., Grotewiel, M. S., & Elsea, S. H.
Affiliations: Salk Institute for Biological Studies (US)
University of Mary Washington (US)
Virginia Commonwealth University (US)
Corresponding author: Elsea, Sarah H.
ORCID: Williams, Stephen R.
Mullegama, Sureni V.
Elsea, Sarah H.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2012-06
Volume: 90
Issue: 6
Pages: 941-949
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2012.04.013
PMC: PMC3370274
OpenAlex: W2012653631
Cited by: 115
References: 42
Citations by year: 2026: 4 · 2025: 4 · 2024: 8 · 2023: 7 · 2022: 10 · 2021: 7 · 2020: 9 · 2019: 8 · 2018: 11 · 2017: 8 · 2016: 11 · 2015: 5 · 2014: 9 · 2013: 12 · 2012: 2
FWCI: 3.96
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 413 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Virginia Commonwealth University
National Institutes of Health
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD038534)
Topics: Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
Life Sciences › Neuroscience › Cognitive Neuroscience › Sleep and Wakefulness Research
Social Sciences › Psychology › Experimental and Cognitive Psychology › Sleep and Work-Related Fatigue
Keywords: Smith-Magenis syndrome, RAI1, circadian rhythm, clock genes, haploinsufficiency, sleep-wake cycle, circadian clock, Per2, Per3, CRY1, Bmal1, hypothalamus, transcriptional regulation, intellectual disability
MeSH terms: Animals, Circadian Rhythm, Female, Fibroblasts, Gene Expression Regulation, Heterozygote, Humans, Hypothalamus, Male, Mice, Transgenic, Mutation, Oscillometry, Phenotype, Transcription Factors, Transcription, Genetic, Trans-Activators, Oligonucleotide Array Sequence Analysis, RNA, Small Interfering, Mice, CLOCK Proteins, Smith-Magenis Syndrome

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Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

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