ArticleGenome biology2015
Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models.
Article in Genome biology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 53 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- HDAC inhibitor treatment restores transcriptome, chromatin accessibility, and memory deficits in a mouse model for Down syndrome.iScience · 2026Article
- A Researcher's guide to rodent models of Down syndrome: Recent insights and translational perspectives.STAR protocols · 2026Review
- The Multifactorial Causes of Down Syndrome During Pregnancy: A Narrative Review of Genetic, Environmental, and Maternal Influences.Health science reports · 2025Article
- Increased methylation levels of theEpigenomics · 2025Article
- Epigenetic Changes Regulating Epithelial-Mesenchymal Plasticity in Human Trophoblast Differentiation.Cells · 2025Article
- Exploring genome-transcriptome correlations in cancer.Biochemical Society transactions · 2025Review
- Infantile Spasms in Pediatric Down Syndrome: Potential Mechanisms Driving Therapeutic Considerations.Children (Basel, Switzerland) · 2024Review
- Description of Clinical Facial Analysis of Down Syndrome Patients Using Rhinobase Software: An Anthropometric Study.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2024Article
- The lncRNA Snhg11, a new candidate contributing to neurogenesis, plasticity, and memory deficits in Down syndrome.Molecular psychiatry · 2024Article
- Increased hippocampal epigenetic age in the Ts65Dn mouse model of Down Syndrome.Frontiers in aging neuroscience · 2024Article
- The lncRNA Snhg11, a new candidate contributing to neurogenesis, plasticity and memory deficits in Down syndrome.Research square · 2023Article
- Article
- CeDAR: incorporating cell type hierarchy improves cell type-specific differential analyses in bulk omics data.Genome biology · 2023Article
- DNA methylation profiling in Trisomy 21 females with and without breast cancer.Frontiers in oncology · 2023Article
- Editorial: Epigenomic polymorphisms: The drivers of diversity and heterogeneity.Frontiers in genetics · 2022Article
- Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study.Human cell · 2021Article
- Article
- Stable DNMT3L overexpression in SH-SY5Y neurons recreates a facet of the genome-wide Down syndrome DNA methylation signature.Epigenetics & chromatin · 2021Article
- The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis.Nature communications · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
22 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundTrisomy 21 causes Down syndrome (DS), but the mechanisms by which the extra chromosome leads to deficient intellectual and immune function are not well understood.
resultsHere, we profile CpG methylation in DS and control cerebral and cerebellar cortex of adults and cerebrum of fetuses. We purify neuronal and non-neuronal nuclei and T lymphocytes and find biologically relevant genes with DS-specific methylation (DS-DM) in each of these cell types. Some genes show brain-specific DS-DM, while others show stronger DS-DM in T cells. Both 5-methyl-cytosine and 5-hydroxy-methyl-cytosine contribute to the DS-DM. Thirty percent of genes with DS-DM in adult brain cells also show DS-DM in fetal brains, indicating early onset of these epigenetic changes, and we find early maturation of methylation patterns in DS brain and lymphocytes. Some, but not all, of the DS-DM genes show differential expression. DS-DM preferentially affected CpGs in or near specific transcription factor binding sites (TFBSs), implicating a mechanism involving altered TFBS occupancy. Methyl-seq of brain DNA from mouse models with sub-chromosomal duplications mimicking DS reveals partial but significant overlaps with human DS-DM and shows that multiple chromosome 21 genes contribute to the downstream epigenetic effects.
conclusionsThese data point to novel biological mechanisms in DS and have general implications for trans effects of chromosomal duplications and aneuploidies on epigenetic patterning.
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Registered trials
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.