Imprinted genes in placental growth and obstetric disorders

Tycko, Benjamin

doi:10.1159/000090842

Cited by 63 publications

(43 citation statements)

References 119 publications

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“…However, in our study, only one of the enzymes catalyzing methylation and/or demethylation, DNMT3b (Ooi & Bestor 2008), had decreased mRNA expression; whereas expression of DNMT3a mRNA increased during early pregnancy. Therefore, we hypothesize that a specific balance exists between (Tycko 2006, Wagschal & Feil 2006. Therefore, correction of the DNA methylation may offer new strategies for preventing pregnancy complications.…”

Section: Discussionmentioning

confidence: 99%

Placental development during early pregnancy in sheep: cell proliferation, global methylation, and angiogenesis in the fetal placenta

Grazul-Bilska¹,

Johnson²,

Borowicz³

et al. 2011

Reproduction

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To characterize early fetal placental development, gravid uterine tissues were collected from pregnant ewes every other day from day 16 to 30 after mating. Determination of 1) cell proliferation was based on Ki67 protein immunodetection; 2) global methylation was based on 5-methyl-cytosine (5mC) expression and mRNA expression for DNA methyltransferases (DNMTs) 1, 3a, and 3b; and 3) vascular development was based on smooth muscle cell actin immunolocalization and on mRNA expression of several factors involved in the regulation of angiogenesis in fetal membranes (FMs). Throughout early pregnancy, the labeling index (proportion of proliferating cells) was very high (21%) and did not change. Expression of 5mC and mRNA for DNMT3b decreased, but mRNA for DNMT1 and 3a increased. Blood vessels were detected in FM on days 18-30 of pregnancy, and their number per tissue area did not change. The patterns of mRNA expression for placental growth factor, vascular endothelial growth factor, and their receptors FLT1 and KDR; angiopoietins 1 and 2 and their receptor TEK; endothelial nitric oxide synthase and the NO receptor GUCY13B; and hypoxia inducing factor 1 a changed in FM during early pregnancy. These data demonstrate high cellular proliferation rates, and changes in global methylation and mRNA expression of factors involved in the regulation of DNA methylation and angiogenesis in FM during early pregnancy. This description of cellular and molecular changes in FM during early pregnancy will provide the foundation for determining the basis of altered placental development in pregnancies compromised by environmental, genetic, or other factors.

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Section: Discussionmentioning

confidence: 99%

Placental development during early pregnancy in sheep: cell proliferation, global methylation, and angiogenesis in the fetal placenta

Grazul-Bilska¹,

Johnson²,

Borowicz³

et al. 2011

Reproduction

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“…Vu et al, 2010). The loss of genomic imprinting (LOI) during the early stages of embryogenesis, can lead to placental and fetal growth restriction and influence the fetal development into adulthood (Sasaky & Ishino, 2006;Tycko, 2006;American Journal of Medical Genetics, 2010).…”

Section: Placenta Epigenetics and Genomic Imprintingmentioning

confidence: 99%

Genomic Imprinting in Human Placenta

Lambertini¹,

Lee²,

Marsit³

et al. 2012

Recent Advances in Research on the Human Placenta

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This book contains the total of 19 chapters, each of which is written by one or several experts in the corresponding field. The objective of this book is to provide a comprehensive and most updated overview of the human placenta, including current advances and future directions in the early detection, recognition, and management of placental abnormalities as well as the most common placental structure and functions, abnormalities, toxicology, infections, and pathologies. It also includes a highly controversial topic, therapeutic applications of the human placenta. A collection of articles presented by active investigators provides a clear update in the area of placental research for medical students, nurse practitioners, practicing clinicians, and biomedical researchers in the fields of obstetrics, pediatrics, family practice, genetics, and others who may be interested in human placentas.

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“…1 Maintenance of differential DNA methylation between maternal and paternal alleles of specific sequences is crucial to proper imprinting control, and methylation defects at imprinted loci have been described in human imprinting disorders. 4 Beckwith-Wiedemann syndrome (BWS, OMIM 13650) is a tumour-associated overgrowth disorder that is mainly caused by the dysregulation of a cluster of imprinted genes located at chromosome 11p15.5. 5 Although some familial cases with dominant maternal inheritance have been described, 6,7 BWS cases are mostly sporadic and are characterised by methylation abnormalities at one of the two imprinting control regions (ICRs) (H19 and KCNQ1OT1 ICR, also known as IC1 and IC2) or paternal uniparental disomy (UPD) at 11p15.5.…”

Section: Introductionmentioning

confidence: 99%

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

et al. 2008

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Genomic imprinting is an epigenetic phenomenon restricting gene expression in a manner dependent on parent of origin. Imprinted gene products are critical regulators of growth and development, and imprinting disorders are associated with both genetic and epigenetic mutations, including disruption of DNA methylation within the imprinting control regions (ICRs) of these genes. It was recently reported that some patients with imprinting disorders have a more generalised imprinting defect, with hypomethylation at a range of maternally methylated ICRs. We report a cohort of 149 patients with a clinical diagnosis of Beckwith -Wiedemann syndrome (BWS), including 81 with maternal hypomethylation of the KCNQ1OT1 ICR. Methylation analysis of 11 ICRs in these patients showed that hypomethylation affecting multiple imprinted loci was restricted to 17 patients with hypomethylation of the KCNQ1OT1 ICR, and involved only maternally methylated loci. Both partial and complete hypomethylation was demonstrated in these cases, suggesting a possible postzygotic origin of a mosaic imprinting error. Some ICRs, including the PLAGL1 and GNAS/NESPAS ICRs implicated in the aetiology of transient neonatal diabetes and pseudohypoparathyroidism type 1b, respectively, were more frequently affected than others. Although we did not find any evidence for mutation of the candidate gene DNMT3L, these results support the hypotheses that trans-acting factors affect the somatic maintenance of imprinting at multiple maternally

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Imprinted genes in placental growth and obstetric disorders

Cited by 63 publications

References 119 publications

Placental development during early pregnancy in sheep: cell proliferation, global methylation, and angiogenesis in the fetal placenta

Placental development during early pregnancy in sheep: cell proliferation, global methylation, and angiogenesis in the fetal placenta

Genomic Imprinting in Human Placenta

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

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