Maternal placenta modulates a deleterious fetal mutation

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Xu , H , Pausch , H , Venhoranta , H , Rutkowska , K , Wurmser , C , Rieblinger , B , Flisikowska , T , Frishman , D , Zwierzchowski , L , Fries , R , Andersson , M , Kind , A , Schnieke , A & Flisikowski , K 2017 , ' Maternal placenta modulates a deleterious fetal mutation ' , Biology of Reproduction , vol. 97 , no. 2 , pp. 249-257 . https://doi.org/10.1093/biolre/iox064

Title: Maternal placenta modulates a deleterious fetal mutation
Author: Xu, Hongen; Pausch, Hubert; Venhoranta, Heli; Rutkowska, Karolina; Wurmser, Christine; Rieblinger, Beate; Flisikowska, Tatiana; Frishman, Dmitrij; Zwierzchowski, Lech; Fries, Ruedi; Andersson, Magnus; Kind, Alexander; Schnieke, Angelika; Flisikowski, Krzysztof
Contributor: University of Helsinki, Departments of Faculty of Veterinary Medicine
University of Helsinki, Departments of Faculty of Veterinary Medicine
Date: 2017-08
Language: eng
Number of pages: 9
Belongs to series: Biology of Reproduction
ISSN: 0006-3363
URI: http://hdl.handle.net/10138/308205
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 MIMT1(Del/WT) fetuses before IUGR became apparent, to identify key early events. Transcriptome analysis revealed fewer differentially expressed genes in maternal than fetal MIMT1(Del/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 (similar to 80:20) of PEG3 in the maternal MIMT1(Del/WT) placenta could be associated with incomplete penetrance of MIMT1(Del). 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.
Subject: developmental biology
epigenetics
fetal development
genomic imprinting
imprinted genes
intrauterine growth restriction
placenta
PEG3
cattle
ZINC-FINGER GENE
INTRAUTERINE GROWTH RESTRICTION
BECKWITH-WIEDEMANN-SYNDROME
DNA-SEQUENCING DATA
IMPRINTED GENES
PEG3 DOMAIN
IN-VITRO
EXPRESSION
PREGNANCY
GENOME
413 Veterinary science
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