La Trobe

File(s) stored somewhere else

Please note: Linked content is NOT stored on La Trobe and we can't guarantee its availability, quality, security or accept any liability.

Smchd1 is a maternal effect gene required for genomic imprinting

journal contribution
posted on 08.01.2021, 04:55 by I Wanigasuriya, Quentin GouilQuentin Gouil, SA Kinkel, AT Del Fierro, T Beck, EA Roper, K Breslin, J Stringer, K Hutt, HJ Lee, A Keniry, ME Ritchie, ME Blewitt
© Wanigasuriya et al. 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.

Funding

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.

History

Publication Date

01/10/2020

Journal

eLife

Volume

9

Article Number

e55529

Pagination

27p. (p. 1-27)

Publisher

eLife Sciences Publications

ISSN

2050-084X

Rights Statement

The Author reserves all moral rights over the deposited text and must be credited if any re-use occurs. Documents deposited in OPAL are the Open Access versions of outputs published elsewhere. Changes resulting from the publishing process may therefore not be reflected in this document. The final published version may be obtained via the publisher’s DOI. Please note that additional copyright and access restrictions may apply to the published version.