scholarly journals Smchd1 is a maternal effect gene required for genomic imprinting

eLife ◽  
2020 ◽  
Vol 9 ◽  
Author(s):  
Iromi Wanigasuriya ◽  
Quentin Gouil ◽  
Sarah A Kinkel ◽  
Andrés Tapia del Fierro ◽  
Tamara Beck ◽  
...  
Keyword(s):  
Genomic Imprinting ◽  
Maternal Effect ◽  
Imprinted Genes ◽  
Parental Allele ◽  
Maternal Effect Gene ◽  
Parent Of Origin ◽  
Mammalian Genes ◽  
Dose Dependent ◽  
Dose Dependent Effect ◽  
Effect Gene

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.

scholarly journals Smchd1 is a maternal effect gene required for autosomal imprinting

2020 ◽  
Author(s):  
Iromi Wanigasuriya ◽  
Quentin Gouil ◽  
Sarah A. Kinkel ◽  
Andrés Tapia del Fierro ◽  
Tamara Beck ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Maternal Effect ◽  
Parental Allele ◽  
Epigenetic Effect ◽  
Maternal Effect Gene ◽  
Maternal Effect Genes ◽  
Parent Of Origin ◽  
Mammalian Genes ◽  
Post Implantation ◽  
Effect Gene

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 group, as Smchd1 does not affect germline DNA methylation imprints. Instead, Smchd1-sensitive genes are united by their reliance on polycomb-mediated histone methylation marks as germline or secondary imprints. We propose that Smchd1 translates these imprints to establish a heritable chromatin state required for imprinted expression later in development, revealing a new mechanism for maternal effect genes.

scholarly journals Author response: Smchd1 is a maternal effect gene required for genomic imprinting

2020 ◽  
Author(s):  
Iromi Wanigasuriya ◽  
Quentin Gouil ◽  
Sarah A Kinkel ◽  
Andrés Tapia del Fierro ◽  
Tamara Beck ◽  
...  
Keyword(s):  
Genomic Imprinting ◽  
Maternal Effect ◽  
Author Response ◽  
Maternal Effect Gene ◽  
Effect Gene

scholarly journals Maternal-effect gene Ces5/Ooep/Moep19/Floped is essential for oocyte cytoplasmic lattice formation and embryonic development at the maternal-zygotic stage transition

2010 ◽  
Vol 15 (8) ◽  
pp. 813-828 ◽  
Author(s):  
Fumi Tashiro ◽  
Masami Kanai-Azuma ◽  
Satsuki Miyazaki ◽  
Masahiro Kato ◽  
Tomofumi Tanaka ◽  
...  
Keyword(s):  
Embryonic Development ◽  
Maternal Effect ◽  
Maternal Effect Gene ◽  
Stage Transition ◽  
Lattice Formation ◽  
Effect Gene

Imprinting analysis in the Acrodysplasia region of mouse chromosome 12

2009 ◽  
Vol 30 (2) ◽  
pp. 119-124 ◽  
Author(s):  
Erin N. McMurray ◽  
Eric D. Rogers ◽  
Jennifer V. Schmidt
Keyword(s):  
Mouse Chromosome ◽  
Genomic Imprinting ◽  
Critical Region ◽  
The Other ◽  
Chromosome 12 ◽  
Imprinted Genes ◽  
Skeletal Abnormalities ◽  
Mouse Mutation ◽  
Parent Of Origin

The insertional mouse mutation Adp (Acrodysplasia) confers a parent-of-origin developmental phenotype, with animals inheriting the mutation from their father showing skeletal abnormalities, whereas those inheriting the mutation from their mother are normal. This parental-specific phenotype, along with mapping of the insertion to a region of chromosome 12 proposed to contain imprinted genes, suggested that disruption of genomic imprinting might underlie the Adp phenotype. Genomic imprinting is the process by which autosomal genes are epigenetically silenced on one of the two parental alleles; imprinting mutation phenotypes manifest after inheritance from one parent but not the other. Imprinted genes typically occur in dense clusters that contain few non-imprinted genes and therefore representative genes from the Adp critical region could be assayed to identify any imprinted domains. None of the genes analysed were found to be imprinted, however, suggesting that other explanations for the Adp phenotype must be considered.

scholarly journals The “first” maternal effect gene

2012 ◽  
Vol 79 (10) ◽  
pp. Fm i-Fm i
Author(s):  
Gary M. Wessel
Keyword(s):  
Maternal Effect ◽  
Maternal Effect Gene ◽  
Effect Gene
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