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29 June 2017 Maternal placenta modulates a deleterious fetal mutation
Hongen Xu, Hubert Pausch, Heli Venhoranta, Karolina Rutkowska, Christine Wurmser, Beate Rieblinger, Tatiana Flisikowska, Dmitrij Frishman, Lech Zwierzchowski, Ruedi Fries, Magnus Andersson, Alexander Kind, Angelika Schnieke, Krzysztof Flisikowski
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Abstract

Intrauterine growth restriction (IUGR) is caused by dysregulation of placental metabolism. Paternally inherited IUGR mutations in the fetus influence maternal physiology via the placenta. However, it is not known whether the maternal placenta also affects the extent of IUGR in such fetuses. In cattle and other ruminants, maternal–fetal communication occurs primarily at the placentomes. We previously identified a 3′ deletion in the noncoding MER1 repeat containing imprinted transcript 1 (MIMT1) gene that, when inherited from the sire, causes IUGR and late abortion in Ayshire cattle with variable levels of severity. Here, we compared the transcriptome and genomic imprinting in fetal and maternal placentome components of wild-type and MIMT1Del/WT fetuses before IUGR became apparent, to identify key early events. Transcriptome analysis revealed fewer differentially expressed genes in maternal than fetal MIMT1Del/WT placentome. AST1, within the PEG3 domain, was the only gene consistently reduced in IUGR in both fetal and maternal samples. Several genes showed an imprinting pattern associated with IUGR, of which only secernin 3 (SCRN3) and paternally expressed 3 (PEG3) were differentially imprinted in both placentome components. Loss of strictly monoallelic, allele-specific expression (∼80:20) of PEG3 in the maternal MIMT1Del/WT placenta could be associated with incomplete penetrance of MIMT1Del. Our data show that dysregulation of the PEG3 domain is involved in IUGR, but also reveal that maternal placental tissues may affect the penetrance of the paternally inherited IUGR mutation.

Summary Sentence

Aberrant expression of imprinted genes specifically in maternal placental tissues affects the penetrance of a paternally inherited IUGR mutation in cattle.

© The Authors 2017. Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com
Hongen Xu, Hubert Pausch, Heli Venhoranta, Karolina Rutkowska, Christine Wurmser, Beate Rieblinger, Tatiana Flisikowska, Dmitrij Frishman, Lech Zwierzchowski, Ruedi Fries, Magnus Andersson, Alexander Kind, Angelika Schnieke, and Krzysztof Flisikowski "Maternal placenta modulates a deleterious fetal mutation," Biology of Reproduction 97(2), 249-257, (29 June 2017). https://doi.org/10.1093/biolre/iox064
Received: 25 April 2017; Accepted: 23 June 2017; Published: 29 June 2017
JOURNAL ARTICLE
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KEYWORDS
cattle
developmental biology
epigenetics
fetal development
GENOMIC IMPRINTING
imprinted genes
intrauterine growth restriction
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