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Fetal growth restriction in a genetic model of sporadic Beckwith-Wiedemann syndrome.

cam.issuedOnline2018-11-16
dc.contributor.authorTunster, Simon J
dc.contributor.authorVan de Pette, Mathew
dc.contributor.authorCreeth, Hugo DJ
dc.contributor.authorLefebvre, Louis
dc.contributor.authorJohn, Rosalind M
dc.contributor.orcidTunster, Simon J [0000-0002-2242-9452]
dc.date.accessioned2018-11-13T00:31:03Z
dc.date.available2018-11-13T00:31:03Z
dc.date.issued2018-11-16
dc.description.abstractBeckwith-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.
dc.description.sponsorshipCanadian Institutes of Health Research (MOP-451 119357) NSERC (RGPIN 386979-12) The Waterloo Foundation Ewan Maclean Fellowship
dc.format.mediumElectronic
dc.identifier.doi10.17863/CAM.32344
dc.identifier.eissn1754-8411
dc.identifier.issn1754-8403
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/284973
dc.languageeng
dc.language.isoeng
dc.publisherThe Company of Biologists
dc.publisher.urlhttp://dx.doi.org/10.1242/dmm.035832
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectBeckwith–Wiedemann syndrome
dc.subjectFetal growth restriction
dc.subjectMouse model
dc.subjectPlacentomegaly
dc.subjectAnimals
dc.subjectBasic Helix-Loop-Helix Transcription Factors
dc.subjectBeckwith-Wiedemann Syndrome
dc.subjectBiomarkers
dc.subjectCell Lineage
dc.subjectDisease Models, Animal
dc.subjectEmbryo Loss
dc.subjectFemale
dc.subjectFetal Growth Retardation
dc.subjectFetus
dc.subjectGene Expression Regulation, Developmental
dc.subjectGlycogen
dc.subjectMice
dc.subjectModels, Genetic
dc.subjectPlacenta
dc.subjectPregnancy
dc.subjectTrophoblasts
dc.titleFetal growth restriction in a genetic model of sporadic Beckwith-Wiedemann syndrome.
dc.typeArticle
dcterms.dateAccepted2018-08-17
prism.issueIdentifier11
prism.publicationDate2018
prism.publicationNameDis Model Mech
prism.volume11
rioxxterms.licenseref.startdate2018-11-16
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
rioxxterms.typeJournal Article/Review
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1242/dmm.035832

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