Smchd1 is a maternal effect gene required for genomic imprinting

Iromi Wanigasuriya, Quentin Gouil, Sarah A. Kinkel, Andrés 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

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16 Citations (Scopus)


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. 

Original languageEnglish
Article numbere55529
Number of pages27
Publication statusPublished - 13 Nov 2020

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