| First Author | Wanigasuriya I | Year | 2020 |
| Journal | Elife | Volume | 9 |
| PubMed ID | 33186096 | Mgi Jnum | J:298691 |
| Mgi Id | MGI:6477125 | Doi | 10.7554/eLife.55529 |
| Citation | Wanigasuriya I, et al. (2020) Smchd1 is a maternal effect gene required for genomic imprinting. Elife 9:e55529 |
| abstractText | 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. |
