Journal article

Smchd1 is a maternal effect gene required for autosomal imprinting

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

Published : 2020


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 the epigenetic repressor Smchd1 as a novel maternal effect gene that regulates imprinted expression of 16 genes. Most Smchd1-sensitive genes only show loss of imprinting post-implantation, indicating maternal Smchd1’s long-lived epigenetic effect. Sm-chd1-sensitive genes include both those controlled by germline polycomb marks and germline DNA methylation imprints; however, Smchd1 differs to other maternal effect genes that regulate the latter gro..

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