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Prader-Willi syndrome genes are expressed in placenta and play a role in function

Webberley, A.; Boque-Sastre, R.; Bailey, L.; Charles, C.; Bunton-Stasyshyn, R.; Stewart, M. E.; Wells, S.; Chatelet, D. S.; Robinson, S. K.; Higgs, M. J.; John, R. M.; Isles, A.

2026-01-22 physiology
10.64898/2026.01.20.692090 bioRxiv
Show abstract

The neurodevelopmental disorder Prader-Willi syndrome (PWS) is caused by loss of paternally-derived gene expression from the imprinted interval on chromosome 15q11-q13. Recently, it has been suggested that the abnormal feeding-related behaviours characteristic of PWS may be, in part, developmentally programmed in utero via abnormal placental function. Here we report that several PWS-genes are expressed in mouse placenta with marked reduced expression in a large PWS deletion mouse model (Large+/-). Moreover, expression of two PWS-transcripts, Necdin and the lncRNA Sngh14, significantly co-localises with endothelial cells in the labyrinth zone (lz) of the placenta. Critically, in the Large+/- mice, this results in a [~]25% reduction in Kdr-positive endothelial cells in the lz, although this did not directly translate into a significant reduction in fetal growth. Together these data suggest that placental function and nutrient transfer from mother to fetus may be compromised in PWS, and that the later post-natal phenotype may be partially programmed in utero. Summary statementWe systematically examine PWS-gene expression in placenta and show that incorrect expression of imprinted genes in a mouse model for PWS changes the cellular composition of the labyrinth zone.

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