Placental defects revealed by modelling PWS in mice

Webberley, Anna E., Boque-Sastre, Raquel, Bailey, Lauren, Charles, Cerys, Jones, Rachel A., Bunton-Stasyshyn, Rosie, Stewart, Michelle, Wells, Sara E., Chatelet, David S., Robinson, Stephanie K., Higgs, Matthew J., John, Ros ORCID: https://orcid.org/0000-0002-3827-7617 and Isles, Anthony R. ORCID: https://orcid.org/0000-0002-7587-5712 2026. Placental defects revealed by modelling PWS in mice. Disease Models & Mechanisms 19 (8) , dmm052833. 10.1242/dmm.052833

PDF - Published Version Available under License Creative Commons Attribution. Download (2MB)

Abstract

The neurodevelopmental disorder Prader–Willi syndrome (PWS) is caused by paternally derived loss of gene expression from the imprinted interval on chromosome 15q11-q13. Recently, it has been suggested that the abnormal feeding-related behaviours characteristic of PWS can, in part, be developmentally programmed in utero via abnormal placental function. Here, we report that several PWS-associated genes were expressed in mouse placenta with three PWS-associated RNA transcripts, i.e. genes Magel2 and Necdin, and the lncRNA Sngh14, colocalised to the Kdr-positive (Kdr+) foetal endothelial cells of the labyrinth zone central to nutrient transport. In a novel PWS mouse model (Large+/−) we found markedly reduced expression of PWS-associated genes in the placenta and an associated ∼25% reduction in Kdr+ foetal endothelial cells. Although this did not directly translate into a significant reduction in foetal growth late in gestation, these data suggest that placental function and nutrient transfer from mother to foetus could be compromised in PWS contributing to later post-natal phenotypes.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine Schools > Biosciences
Publisher:	The Company of Biologists
ISSN:	1754-8403
Funders:	EPSRC
Projects:	EP/T02593X/1
Date of First Compliant Deposit:	14 July 2026
Date of Acceptance:	30 June 2026
Last Modified:	07 Oct 2026 12:43
URI:	https://orca.cardiff.ac.uk/id/eprint/188197

Actions (repository staff only)

Edit Item