Decreased Placental Methylation at the H19/IGF2 Imprinting Control Region is Associated with Normotensive Intrauterine Growth Restriction but not Preeclampsia

Bourque, Danielle K; Avila, Luana; Peñaherrera, Maria S.; Dadelszen, Peter von; Robinson, Wendy P.

doi:10.1016/j.placenta.2009.12.003

Cited by 159 publications

(131 citation statements)

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“…Further diagnostic workup by microsatellite and array analysis revealed biparental inheritance and no genomic imbalances in the chromosomal region 14q32 containing the MEG3 gene. The diagnosis of upd (14)mat syndrome caused by an epimutation was established.…”

Section: Resultsmentioning

confidence: 99%

“…In one of the six children with single-locus methylation defect, the diagnosis of upd (14)mat syndrome owing to an epimutation was established. Clinical findings for this child are well consistent with the newly established diagnosis: the girl is developmentally delayed, presents with short stature, developed a precocious puberty, has small hands and feet as well as a prominent forehead.…”

Section: Discussionmentioning

confidence: 99%

“…8 Uniparental maternal and paternal disomy 14q32 have been described to be associated with hypomethylation and hypermethylation in 14q32, respectively. Upd (14)mat, also known as Temple syndrome, is associated with a recognizable phenotype including precocious puberty, short stature, small hands and feet and prominent forehead. 9 Upd (14)pat results in a unique phenotype characterized by facial abnormalities, narrow, bell-shaped thorax with coat hanger rib sign, abdominal wall defects and polyhydramnios.…”

Section: Introductionmentioning

confidence: 99%

“…9 Upd (14)pat results in a unique phenotype characterized by facial abnormalities, narrow, bell-shaped thorax with coat hanger rib sign, abdominal wall defects and polyhydramnios. Recently different groups identified epimutations in patients with a upd (14)mat and upd (14)pat phenotype. 10,11 While epimutations represent rare events in Angelman syndrome and Prader-Willi syndrome patients, they are frequently associated with those syndromes characterized by growth abnormalities (eg, Beckwith-Wiedemann syndrome and Silver-Russell syndrome).…”

Section: Introductionmentioning

confidence: 99%

“…6 Results have been very heterogeneous with most studies analyzing chorionic villi or placenta tissue. [12][13][14][15] Nevertheless, placental tissue displays an intermediate distribution of methylation as compared, for example, with embryonal epithelial cells. 16,17 Moreover, there is greater epigenetic variation in extraembryonic than in embryonic tissue.…”

Section: Introductionmentioning

confidence: 99%

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Frequency and characterization of DNA methylation defects in children born SGA

et al. 2012

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Various genes located at imprinted loci and regulated by epigenetic mechanisms are involved in the control of growth and differentiation. The broad phenotypic variability of imprinting disorders suggests that individuals with inborn errors of imprinting might remain undetected among patients born small for gestational age (SGA). We evaluated quantitative DNA methylation analysis at differentially methylated regions (DMRs) of 10 imprinted loci (PLAGL1, IGF2R DMR2, GRB10, H19 DMR, IGF2, MEG3, NDN, SNRPN, NESP, NESPAS) by bisulphite pyrosequencing in 98 patients born SGA and 50 controls. For IGF2R DMR2, methylation patterns of additional 47 parent pairs and one mother (95 individuals) of patients included in the SGA cohort were analyzed. In six out of 98 patients born SGA, we detected DNA methylation changes at single loci. In one child, the diagnosis of upd(14)mat syndrome owing to an epimutation of the MEG3 locus in 14q32 could be established. The remaining five patients showed hypomethylation at GRB10 (n ¼ 2), hypomethylation at the H19 3CTCF-binding site (n ¼ 1), hypermethylation at NDN (n ¼ 1) and hypermethylation at IGF2 (n ¼ 1). IGF2R DMR2 hypermethylation was detected in five patients, six parents of patients in the SGA cohort and two controls. We conclude that aberrant methylation at imprinted loci in children born SGA exists but seems to be rare if known imprinting syndromes are excluded. Further investigations on the physiological variations and the functional consequences of the detected aberrant methylation are necessary before final conclusions on the clinical impact can be drawn.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Frequency and characterization of DNA methylation defects in children born SGA

et al. 2012

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Depletion of CTCF disrupts PSG gene expression in the human trophoblast cell line Swan 71

2021

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Pregnancy‐specific glycoproteins (PSGs) are fetal proteins secreted by the placenta during pregnancy. The PSG level in maternal serum is an indicator of risk for pregnancy complications. However, little is known about the molecular mechanisms underlying PSG gene expression. Recently, the importance of epigenetic regulation of placental genes has been emphasized in the study of developmental defects and placental disease. In this study, the role of the CCCTC‐binding factor (CTCF) in regulation of PSG expression was investigated to better understand the epigenetic regulatory mechanisms of the PSG genes. Inhibition of CTCF expression disturbed transcription of several PSG genes: PSG1, PSG2, PSG4, PSG5, PSG8, and PSG9 were upregulated and PSG6 and PSG11 were downregulated. These transcriptional changes were correlated with decreased CTCF binding and changes in histone modification at the PSG promoters. Our data demonstrate that CTCF is a potential mediator in the regulation of PSG gene expression.

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Epigenetics, Nutrition, and Reproduction: Short‐ and Long‐Term Consequences

Haggarty

2011

Nutrition in Epigenetics

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Human reproduction involves the generation of male and female germ cells, their combination during fertilization, and the maintenance of the resulting conceptus through to birth. Epigenetic regulation is fundamental to all of these processes and there is growing evidence that nutritional exposures at key stages in reproduction can influence epigenetics, with potentially important consequences for both human reproduction and the long-term health of the offspring.

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Decreased Placental Methylation at the H19/IGF2 Imprinting Control Region is Associated with Normotensive Intrauterine Growth Restriction but not Preeclampsia

Cited by 159 publications

References 50 publications

Frequency and characterization of DNA methylation defects in children born SGA

Frequency and characterization of DNA methylation defects in children born SGA

Depletion of CTCF disrupts PSG gene expression in the human trophoblast cell line Swan 71

Epigenetics, Nutrition, and Reproduction: Short‐ and Long‐Term Consequences

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