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dc.contributor.authorWanigasuriya, I
dc.contributor.authorGouil, Q
dc.contributor.authorKinkel, SA
dc.contributor.authordel Fierro, AT
dc.contributor.authorBeck, T
dc.contributor.authorRoper, EA
dc.contributor.authorBreslin, K
dc.contributor.authorStringer, J
dc.contributor.authorHutt, K
dc.contributor.authorLee, HJ
dc.contributor.authorKeniry, A
dc.contributor.authorRitchie, ME
dc.contributor.authorBlewitt, ME
dc.date.accessioned2020-12-09T22:36:02Z
dc.date.available2020-12-09T22:36:02Z
dc.date.issued2020-11-13
dc.identifierpii: 55529
dc.identifier.citationWanigasuriya, I., Gouil, Q., Kinkel, S. A., del Fierro, A. T., Beck, T., Roper, E. A., Breslin, K., Stringer, J., Hutt, K., Lee, H. J., Keniry, A., Ritchie, M. E. & Blewitt, M. E. (2020). Smchd1 is a maternal effect gene required for genomic imprinting. ELIFE, 9, https://doi.org/10.7554/eLife.55529.
dc.identifier.issn2050-084X
dc.identifier.urihttp://hdl.handle.net/11343/253013
dc.description.abstractGenomic imprinting establishes parental allele-biased expression of a suite of mammalian genes based on parent-of-origin specific epigenetic marks. These marks are under the control of maternal effect proteins supplied in the oocyte. Here we report epigenetic repressor Smchd1 as a novel maternal effect gene that regulates the imprinted expression of ten genes in mice. We also found zygotic SMCHD1 had a dose-dependent effect on the imprinted expression of seven genes. Together, zygotic and maternal SMCHD1 regulate three classic imprinted clusters and eight other genes, including non-canonical imprinted genes. Interestingly, the loss of maternal SMCHD1 does not alter germline DNA methylation imprints pre-implantation or later in gestation. Instead, what appears to unite most imprinted genes sensitive to SMCHD1 is their reliance on polycomb-mediated methylation as germline or secondary imprints, therefore we propose that SMCHD1 acts downstream of polycomb imprints to mediate its function.
dc.languageEnglish
dc.publisherELIFE SCIENCES PUBLICATIONS LTD
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleSmchd1 is a maternal effect gene required for genomic imprinting
dc.typeJournal Article
dc.identifier.doi10.7554/eLife.55529
melbourne.affiliation.departmentMedical Biology (W.E.H.I.)
melbourne.source.titleeLife
melbourne.source.volume9
dc.rights.licenseCC BY
melbourne.elementsid1480354
melbourne.openaccess.pmchttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC7665889
melbourne.contributor.authorKinkel, Sarah
melbourne.contributor.authorBlewitt, Marnie
melbourne.contributor.authorGouil, Quentin
melbourne.contributor.authorKeniry, Andrew
melbourne.contributor.authorRitchie, Matthew
melbourne.contributor.authorWanigasuriya, Chamila Iromi
dc.identifier.eissn2050-084X
melbourne.accessrightsOpen Access


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