title: Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or fetal deaths.
abstract: Genomic imprinting is defined as an epigenetic modification that leads to parent-of-origin specific monoallelic expression. Some current research on the fetal control growth has been focused on the study of genes that display imprinted expression in utero. Four imprinted genes, two paternally expressed (IGF2 and PEG10) and two maternally expressed (PHLDA2 and CDKN1C), are well known to play a role in fetal growth and placental development. Pregnancy loss in the general reproductive population is a very common occurrence and other genetic causes beyond chromosomal abnormalities could be involved in spontaneous miscarriages or fetal deaths, such as alteration of expression in imprinted genes particularly those related to fetal or placental growth. Quantitative Real Time PCR was performed to evaluate gene expressions patterns of the four mentioned genes in spontaneous miscarriages or fetal deaths from 38 women. Expression levels of PHLDA2 gene were upregulated in the first trimester pregnancy cases and all four imprinted genes studied were upregulated in the second trimester of pregnancy cases comparing with controls. In third trimester PEG10 was downregulated in fetal samples group. This is the first study presenting data from human imprinted genes expression in spontaneous miscarriages or fetal deaths cases from the three trimesters of pregnancy.
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Portugal. sdoria@med.up.pt
authors.forename: Sofia
authors.initials: S
authors.lastname: Dória
authors.forename: Mário
authors.initials: M
authors.lastname: Sousa
authors.forename: Susana
authors.initials: S
authors.lastname: Fernandes
authors.forename: Carla
authors.initials: C
authors.lastname: Ramalho
authors.forename: Otília
authors.initials: O
authors.lastname: Brandão
authors.forename: Alexandra
authors.initials: A
authors.lastname: Matias
authors.forename: Alberto
authors.initials: A
authors.lastname: Barros
authors.forename: Filipa
authors.initials: F
authors.lastname: Carvalho
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D005313:Fetal Death / Q000235:genetics* / Q000378:metabolism; D047109:Fetal Development / Q000235:genetics; D005317:Fetal Growth Retardation / Q000235:genetics; D018507:Gene Expression Regulation, Developmental; D018392:Genomic Imprinting; D006801:Humans; D007335:Insulin-Like Growth Factor II / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010929:Placentation / Q000235:genetics*; D011247:Pregnancy; D011263:Pregnancy Trimester, Third / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D015854:Up-Regulation
chemical_list: D051017:Apoptosis Regulatory Proteins; C493964:CDKN1C protein, human; D050761:Cyclin-Dependent Kinase Inhibitor p57; D004268:DNA-Binding Proteins; C035170:IGF2 protein, human; D009687:Nuclear Proteins; C432965:PEG10 protein, human; D011506:Proteins; D016601:RNA-Binding Proteins; C109277:TSSC3 protein; D007335:Insulin-Like Growth Factor II