Smchd1 is a maternal effect gene required for genomic imprinting

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Wanigasuriya, I; Gouil, Q; Kinkel, SA; del Fierro, AT; Beck, T; Roper, EA; Breslin, K; Stringer, J; Hutt, K; Lee, HJ; ...Date
2020-11-13Source Title
eLifePublisher
ELIFE SCIENCES PUBLICATIONS LTDAffiliation
Medical Biology (W.E.H.I.)Metadata
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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 AccessOpen Access at PMC
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7665889Abstract
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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