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Series GSE139524 Query DataSets for GSE139524
Status Public on May 25, 2020
Title Loss of Snord116 impacts lateral hypothalamus, sleep, and food-related behaviors
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary Imprinted genes are highly expressed in the hypothalamus, however whether specific imprinted genes affect hypothalamic neuromodulators and their functions is unknown. It has been suggested that Prader-Willi syndrome (PWS), a neurodevelopmental disorder caused by lack of paternal expression at the chromosome 15q11-q13, characterised with a hypothalamic insufficiency. Here we investigate the role of paternally expressed Snord116 gene within the context of sleep and metabolic abnormalities of PWS, and we report a novel role of this imprinted gene in the function and organisation of the two main neuromodulatory systems of the lateral hypothalamus (LH), namely the orexin (OX) and the melanin concentrating hormone (MCH). We observe that the dynamic between neuronal discharge in the LH and sleep-wake states of mice carrying the paternal deletion of the Snord116 (PWScrm+/p-) is compromised. This abnormal state-dependent neuronal activity is paralleled by a significant reduction of OX neurons in LH of mutants. Therefore, we propose that unbalance between OX- and MCH- expressing neurons in the LH of mutants reflects in a series of deficits manifested in the PWS, such as dysregulation of rapid eye movement (REM) sleep, food intake and temperature control.
Overall design Investigation of the effect of loss of Snord116 and Sleep Deprivation (SD) on the hypothalamus transcriptome in both normal and PWScrm+/p− mutant mice (paternal Snord116 loss) by performing RNA-sequencing (RNA-seq).  The mice (3-5 per condition) were investigated at the beginning of the light period ZT0 (group 1, G1), six hours later at ZT6 (group 2, G2) and at same ZT6 but following 6-hrs of SD (group 3, G3).
Contributor(s) Pace M, Falappa M, Freschi A, Balzani E, Berteotti C, Lo Martire V, Kaveh F, Hovig E, Zoccoli G, Cerri M, Amici R, Urbanucci A, Tucci V
Citation(s) 32365348
Submission date Oct 28, 2019
Last update date Oct 04, 2022
Contact name Alfonso Urbanucci
Phone 45048687
Organization name Oslo University Hospital
Street address Trondheimsveien 8
City Oslo
State/province Oslo
ZIP/Postal code 0560
Country Norway
Platforms (1)
GPL24247 Illumina NovaSeq 6000 (Mus musculus)
Samples (22)
GSM4142897 3102_S1
GSM4142898 3103_S2
GSM4142899 3104_S3
BioProject PRJNA580049
SRA SRP227287

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Supplementary file Size Download File type/resource
GSE139524_CountKallisto_Mouse_Annotation_Coding_Noncoding_RemovedDupGids_ForDESeq2_Annotation_FinalVersion.txt.gz 2.0 Mb (ftp)(http) TXT
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