Fragile X-related proteins regulate mammalian circadian behavioral rhythms
Open accessAbstract
Fragile X syndrome results from the absence of the fragile X mental retardation 1 (FMR1) gene product (FMRP). FMR1 has two paralogs in vertebrates: fragile X related gene 1 and 2 (FXR1 and FXR2). Here we show that Fmr1/Fxr2 double knockout (KO) and Fmr1 KO/Fxr2 heterozygous animals exhibit a loss of rhythmic activity in a light:dark (LD) cycle, and that Fmr1 or Fxr2 KO mice display a shorter free-running period of locomotor activity in total darkness (DD). Molecular analysis and in vitro electrophysiological studies suggest essentially normal function of cells in the suprachiasmatic nucleus (SCN) in Fmr1/Fxr2 double KO mice. However, the cyclical patterns of abundance of several core clock component messenger (m) RNAs are altered in the livers of double KO mice. Furthermore, FXR2P alone or FMRP and FXR2P together can increase PER1- or PER2-mediated BMAL1-Neuronal PAS2 (NPAS2) transcriptional activity in a dose-dependent manner. These data collectively demonstrate that FMR1 and FXR2 are required for the presence of rhythmic circadian behavior in mammals and suggest that this role may be relevant to sleep and other behavioral alterations observed in fragile X patients.
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The absence of FMRP is likely compensated by FXR1P and/or FXR2P.
“This effect could be due to the fact that the absence of FMRP is likely compensated by FXR1P and/or FXR2P, as reported for other phenotypes (Zhang et al., 2008).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Zhang et al., 2008
The Results section proposes that functional redundancy between FMRP and FXR2P may blur phenotypes in single-knockout mice, supporting possible compensation by FXR2P. Our copy does not establish compensation by FXR1P, and its cautious “may” does not support saying compensation is likely. The indexed passages provide no page number. (LLM, conf=0.79)
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- Authors
- Zhang, J., Fang, Z., Jud, C., Vansteensel, M. J., Kaasik, K., Lee, C. C., Albrecht, U., Tamanini, F., Meijer, J. H., Oostra, B. A., & Nelson, D. L.
- Affiliations
- Baylor College of Medicine (US)
- University of Fribourg (CH)
- Leiden University Medical Center (NL)
- The University of Texas Health Science Center at Houston (US)
- Erasmus MC (NL)
- Corresponding author
- Nelson, David L.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-07
- Volume
- 83
- Issue
- 1
- Pages
- 43-52
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2443847
- OpenAlex
- W2107880079
- Cited by
- 131
- References
- 39
- Citations by year
- 2026: 3 · 2025: 9 · 2024: 7 · 2023: 8 · 2022: 5 · 2021: 5 · 2020: 6 · 2019: 8 · 2018: 8 · 2017: 8 · 2016: 6 · 2015: 6 · 2014: 9 · 2013: 8 · 2012: 4
- FWCI
- 4.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- reroDoc Digital Library (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion)
- Funders
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- National Institutes of Health
- Intellectual and Developmental Disabilities Research Center
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 24064, HD-38038, P30HD024064, R01HD038038)
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Sleep and Wakefulness Research
- Keywords
- fragile X syndrome, FMRP, FXR1, FXR2, circadian rhythm, locomotor activity, suprachiasmatic nucleus, clock genes, Per1, Per2, Bmal1, NPAS2, sleep, liver transcriptome
- MeSH terms
- Animals, Behavior, Animal, Circadian Rhythm, Electrophysiology, Flavoproteins, Fragile X Syndrome, Gene Expression Regulation, Heterozygote, Liver, Male, Mammals, Mice, Inbred C57BL, Motor Activity, Nerve Tissue Proteins, Neurons, Nuclear Proteins, RNA, Messenger, Suprachiasmatic Nucleus, Time Factors, Transcription Factors, RNA-Binding Proteins, In Situ Hybridization, Mice, Knockout, Cell Cycle Proteins, Mice, Basic Helix-Loop-Helix Transcription Factors, Basic Helix-Loop-Helix Proteins, ARNTL Transcription Factors, Cryptochromes, Period Circadian Proteins
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