ArticleEpigenetics2012
Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.
Article in Epigenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 37 citations in OpenAlex.
- Placenta-Driven Evolution: Viral Gene Acquisition andBiomolecules · 2026Review
- Application of single-cell RNA sequencing in preeclampsia.Frontiers in global women's health · 2026Review
- Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.The Journal of clinical endocrinology and metabolism · 2025Article
- Protocol for DNA Methylation Editing of Imprinted Loci and Assessment of the Effects.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Placental DNA methylation in pregnancies complicated by maternal diabetes and/or obesity: State of the art and research gaps.Epigenetics · 2022Review
- Epigenome editing reveals core DNA methylation for imprinting control in the Dlk1-Dio3 imprinted domain.Nucleic acids research · 2022Article
- Thyroid Hormone Deiodinases: Dynamic Switches in Developmental Transitions.Endocrinology · 2021Review
- Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3.Journal of human genetics · 2021Article
- Imprinted Genes and Multiple Sclerosis: What Do We Know?International journal of molecular sciences · 2021Review
- Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report.Journal of medical case reports · 2019Article
- Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome.Journal of human genetics · 2018Article
- The Type 3 Deiodinase: Epigenetic Control of Brain Thyroid Hormone Action and Neurological Function.International journal of molecular sciences · 2018Review
- Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.Molecular syndromology · 2017Article
- Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.European journal of human genetics : EJHG · 2016Article
- Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14.European journal of human genetics : EJHG · 2016Article
- Imprinted genes and imprinting control regions show predominant intermediate methylation in adult somatic tissues.Epigenomics · 2016Article
- Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.Journal of human genetics · 2016Review
- Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).European journal of human genetics : EJHG · 2015Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although recent studies in patients with paternal uniparental disomy 14 [upd(14)pat] and other conditions affecting the chromosome 14q32.2 imprinted region have successfully identified underlying epigenetic factors involved in the development of upd(14)pat phenotype, several matters, including regulatory mechanism(s) for RTL1 expression, imprinting status of DIO3 and placental histological characteristics, remain to be elucidated. We therefore performed molecular studies using fresh placental samples from two patients with upd(14)pat. We observed that RTL1 expression level was about five times higher in the placental samples of the two patients than in control placental samples, whereas DIO3 expression level was similar between the placental samples of the two patients and the control placental samples. We next performed histological studies using the above fresh placental samples and formalin-fixed and paraffin-embedded placental samples obtained from a patient with a maternally derived microdeletion involving DLK1, the-IG-DMR, the MEG3-DMR and MEG3. Terminal villi were associated with swollen vascular endothelial cells and hypertrophic pericytes, together with narrowed capillary lumens. DLK1, RTL1 and DIO3 proteins were specifically identified in vascular endothelial cells and pericytes, and the degree of protein staining was well correlated with the expression dosage of corresponding genes. These results suggest that RTL1as-encoded microRNA functions as a repressor of RTL1 expression, and argue against DIO3 being a paternally expressed gene. Furthermore, it is inferred that DLK1, DIO3 and, specially, RTL1 proteins, play a pivotal role in the development of vascular endothelial cells and pericytes.
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