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A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy
Authors Powell WT, Coulson RL, Crary FK, Wong SS, Ach RA, Tsang P, Alice Yamada N, Yasui
DH, Lasalle JM
Submitted By Submitted Externally on 4/9/2015
Status Published
Journal Human molecular genetics
Year 2013
Date Published
Volume : Pages 22 : 4318 - 4328
PubMed Reference 23771028
Abstract Prader-Willi syndrome (PWS), a genetic disorder of obesity, intellectual
disability and sleep abnormalities, is caused by loss of non-coding RNAs on
paternal chromosome 15q11-q13. The imprinted minimal PWS locus encompasses a
long non-coding RNA (lncRNA) transcript processed into multiple SNORD116 small
nucleolar RNAs and the spliced exons of the host gene, 116HG. However, both the
molecular function and the disease relevance of the spliced lncRNA 116HG are
unknown. Here, we show that 116HG forms a subnuclear RNA cloud that co-purifies
with the transcriptional activator RBBP5 and active metabolic genes, remains
tethered to the site of its transcription and increases in size in post-natal
neurons and during sleep. Snord116del mice lacking 116HG exhibited increased
energy expenditure corresponding to the dysregulation of diurnally expressed
Mtor and circadian genes Clock, Cry1 and Per2. These combined genomic and
metabolic analyses demonstrate that 116HG regulates the diurnal energy
expenditure of the brain. These novel molecular insights into the energy
imbalance in PWS should lead to improved therapies and understanding of lncRNA
roles in complex neurodevelopmental and metabolic disorders.

StrainDevelopment StatusCreation MethodOptions
B6(Cg)-Snord116tm1.1Uta/+Not specified/Otherknockout
B6(Cg)-Snord116tm1.1UtaNot specified/Otherknockout
C57BL/6-Snord116tm1.1Uta/+Not specified/Otherknockout

Snord116small nucleolar RNA, C/D box 116 cluster


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