Journal article

Smchd1 is a maternal effect gene required for genomic imprinting

Iromi Wanigasuriya, Quentin Gouil, Sarah A Kinkel, Andres Tapia del Fierro, Tamara Beck, Ellise A Roper, Kelsey Breslin, Jessica Stringer, Karla Hutt, Heather J Lee, Andrew Keniry, Matthew E Ritchie, Marnie E Blewitt



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 i..

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Awarded by National Health and Medical Research Council

Funding Acknowledgements

National Health and Medical Research Council 1098290 Matthew E Ritchie Marnie E BlewittBellberry-Viertel Senior Medical Research Fellowship Marnie E BlewittThe funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication.