ArticleEuropean journal of human genetics : EJHG2016
Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 53 citations in OpenAlex.
- Activity of Cardiomyocyte Type 3 Deiodinase After Myocardial Infarction Influences Cardiac Recovery in Females.Endocrinology · 2026Article
- Patient-derived stem cell models of brain endothelial-neuron interactions in early course psychosis.Frontiers in psychiatry · 2026Article
- Intragenomic conflict associated with extreme phenotypic plasticity in queen-worker caste determination in honey bees (Apis mellifera).Genome biology · 2025Article
- Role of Long Noncoding RNA Dio3os in Glycolipid Metabolism.Current genomics · 2025Review
- Transgenerational epigenetic self-memory ofEpigenetics · 2024Article
- Gene polymorphisms and thyroid hormone signaling: implication for the treatment of hypothyroidism.Endocrine · 2024Review
- Epigenetic developmental programming and intergenerational effects of thyroid hormones.Vitamins and hormones · 2023Review
- DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities.JCI insight · 2022Article
- Thyroid Hormone Deiodinases: Dynamic Switches in Developmental Transitions.Endocrinology · 2021Review
- Imprinted Genes and Multiple Sclerosis: What Do We Know?International journal of molecular sciences · 2021Review
- Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.Human molecular genetics · 2020Review
- Decreased expression of the thyroid hormone-inactivating enzyme type 3 deiodinase is associated with lower survival rates in breast cancer.Scientific reports · 2020Article
- Physiologic Significance of Epigenetic Regulation of Thyroid Hormone Target Gene Expression.European thyroid journal · 2020Review
- Thyroid hormone action in the developing testis: intergenerational epigenetics.The Journal of endocrinology · 2020Review
- Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.Thyroid : official journal of the American Thyroid Association · 2019Article
- The Type 3 Deiodinase: Epigenetic Control of Brain Thyroid Hormone Action and Neurological Function.International journal of molecular sciences · 2018Review
- Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.The Journal of clinical endocrinology and metabolism · 2017Article
- Decreased anxiety- and depression-like behaviors and hyperactivity in a type 3 deiodinase-deficient mouse showing brain thyrotoxicosis and peripheral hypothyroidism.Psychoneuroendocrinology · 2016Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Individuals with uniparental disomy of chromosome 14 (Temple and Kagami-Ogata syndromes) exhibit a number of developmental abnormalities originating, in part, from aberrant developmental expression of imprinted genes in the DLK1-DIO3 cluster. Although genomic imprinting has been reported in humans for some genes in the cluster, little evidence is available about the imprinting status of DIO3, which modulates developmental exposure to thyroid hormones. We used pyrosequencing to evaluate allelic expression of DLK1 and DIO3 in cDNAs prepared from neonatal foreskins carrying single-nucleotide polymorphisms (SNPs) in the exonic sequence of those genes, and hot-stop PCR to quantify DIO3 allelic expression in cDNA obtained from a skin specimen collected from an adult individual with known parental origin of the DIO3 SNP. In neonatal skin, DLK1 and DIO3 both exhibited a high degree of monoallelic expression from the paternal allele. In the adult skin sample, the allele preferentially expressed is that inherited from the mother, although a different, larger DIO3 mRNA transcript appears the most abundant at this stage. We conclude that DIO3 is an imprinted gene in humans, suggesting that alterations in thyroid hormone exposure during development may partly contribute to the phenotypes associated with uniparental disomy of chromosome 14.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.