- Title
- Smchd1 is a maternal effect gene required for genomic imprinting
- Creator
- Wanigasuriya, Iromi; Gouil, Quentin; Keniry, Andrew; Ritchie, Matthew E.; Blewitt, Marnie E.; Kinkel, Sarah A.; del Fierro, Andres Tapia; Beck, Tamara; Roper, Ellise A.; Breslin, Kelsey; Stringer, Jessica; Hutt, Karla; Lee, Heather J.
- Relation
- NHMRC.1098290 http://purl.org/au-research/grants/nhmrc/1098290
- Relation
- eLife Vol. 9, Issue October 2020, no. e55529, p. 1-27
- Publisher Link
- http://dx.doi.org/10.7554/eLife.55529
- Publisher
- eLife Sciences Publications Ltd.
- Resource Type
- journal article
- Date
- 2020
- Description
- 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.
- Subject
- genomic printing; maternal effect; genes; epigenetic repressor
- Identifier
- http://hdl.handle.net/1959.13/1444642
- Identifier
- uon:42368
- Identifier
- ISSN:2050-084X
- Language
- eng
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