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    Smchd1 is a maternal effect gene required for genomic imprinting

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    Author
    Wanigasuriya, I; Gouil, Q; Kinkel, SA; del Fierro, AT; Beck, T; Roper, EA; Breslin, K; Stringer, J; Hutt, K; Lee, HJ; ...
    Date
    2020-11-13
    Source Title
    eLife
    Publisher
    ELIFE SCIENCES PUBLICATIONS LTD
    University of Melbourne Author/s
    Blewitt, Marnie; Ritchie, Matthew
    Affiliation
    Medical Biology (W.E.H.I.)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Wanigasuriya, 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.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/253013
    DOI
    10.7554/eLife.55529
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7665889
    Abstract
    Genomic 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.

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