ArticlePLoS genetics2020
Analysis of genes within the schizophrenia-linked 22q11.2 deletion identifies interaction of night owl/LZTR1 and NF1 in GABAergic sleep control.
Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 41 citations in OpenAlex.
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- Genome-wide association in Drosophila identifies a role for Piezo and Proc-R in sleep latency.Scientific reports · 2024Article
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- Association between increased BMI and cognitive function in first-episode drug-naïve male schizophrenia.Frontiers in psychiatry · 2024Article
- Neurofibromin 1 mediates sleep depth in Drosophila.PLoS genetics · 2023Article
- Sleep in 22q11.2 Deletion Syndrome: Current Findings, Challenges, and Future Directions.Current psychiatry reports · 2023Review
- NHA1 is a cation/proton antiporter essential for the water-conserving functions of the rectal complex inProceedings of the National Academy of Sciences of the United States of America · 2023Article
- Sleep profiles in children with 22q deletion syndrome: a study of 100 consecutive children seen in a multidisciplinary clinic.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2023Observational
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- Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance.Journal of neurodevelopmental disorders · 2022Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human 22q11.2 chromosomal deletion is one of the strongest identified genetic risk factors for schizophrenia. Although the deletion spans a number of known genes, the contribution of each of these to the 22q11.2 deletion syndrome (DS) is not known. To investigate the effect of individual genes within this interval on the pathophysiology associated with the deletion, we analyzed their role in sleep, a behavior affected in virtually all psychiatric disorders, including the 22q11.2 DS. We identified the gene LZTR1 (night owl, nowl) as a regulator of night-time sleep in Drosophila. In humans, LZTR1 has been associated with Ras-dependent neurological diseases also caused by Neurofibromin-1 (Nf1) deficiency. We show that Nf1 loss leads to a night-time sleep phenotype nearly identical to that of nowl loss and that nowl negatively regulates Ras and interacts with Nf1 in sleep regulation. Furthermore, nowl is required for metabolic homeostasis, suggesting that LZTR1 may contribute to the genetic susceptibility to obesity associated with the 22q11.2 DS. Knockdown of nowl or Nf1 in GABA-responsive sleep-promoting neurons elicits the sleep phenotype, and this defect can be rescued by increased GABAA receptor signaling, indicating that Nowl regulates sleep through modulation of GABA signaling. Our results suggest that nowl/LZTR1 may be a conserved regulator of GABA signaling important for normal sleep that contributes to the 22q11.2 DS.
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