Fetal growth restriction in a genetic model of sporadic Beckwith-Wiedemann syndrome.
View / Open Files
Publication Date
2018-11-16Journal Title
Dis Model Mech
ISSN
1754-8403
Publisher
The Company of Biologists
Volume
11
Issue
11
Language
eng
Type
Article
Physical Medium
Electronic
Metadata
Show full item recordCitation
Tunster, S. J., Van de Pette, M., Creeth, H. D., Lefebvre, L., & John, R. M. (2018). Fetal growth restriction in a genetic model of sporadic Beckwith-Wiedemann syndrome.. Dis Model Mech, 11 (11) https://doi.org/10.1242/dmm.035832
Abstract
Beckwith-Wiedemann syndrome (BWS) is a complex imprinting disorder involving fetal overgrowth and placentomegaly, and is associated with a variety of genetic and epigenetic mutations affecting the expression of imprinted genes on human chromosome 11p15.5. Most BWS cases are linked to loss of methylation at the imprint control region 2 (ICR2) within this domain, which in mice regulates the silencing of several maternally expressed imprinted genes. Modelling this disorder in mice is confounded by the unique embryonic requirement for Ascl2, which is imprinted in mice but not in humans. To overcome this issue, we generated a novel model combining a truncation of distal chromosome 7 allele (DelTel7) with transgenic rescue of Ascl2 expression. This novel model recapitulated placentomegaly associated with BWS, but did not lead to fetal overgrowth.
Keywords
Trophoblasts, Fetus, Placenta, Animals, Mice, Embryo Loss, Fetal Growth Retardation, Beckwith-Wiedemann Syndrome, Disease Models, Animal, Glycogen, Gene Expression Regulation, Developmental, Cell Lineage, Pregnancy, Models, Genetic, Female, Basic Helix-Loop-Helix Transcription Factors, Biomarkers
Sponsorship
Canadian Institutes of Health Research (MOP-451 119357)
NSERC (RGPIN 386979-12)
The Waterloo Foundation
Ewan Maclean Fellowship
Identifiers
External DOI: https://doi.org/10.1242/dmm.035832
This record's URL: https://www.repository.cam.ac.uk/handle/1810/284973
Statistics
Total file downloads (since January 2020). For more information on metrics see the
IRUS guide.
Recommended or similar items
The current recommendation prototype on the Apollo Repository will be turned off on 03 February 2023. Although the pilot has been fruitful for both parties, the service provider IKVA is focusing on horizon scanning products and so the recommender service can no longer be supported. We recognise the importance of recommender services in supporting research discovery and are evaluating offerings from other service providers. If you would like to offer feedback on this decision please contact us on: support@repository.cam.ac.uk