ArticleClinical epigenetics2015
DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations.
Article in Clinical epigenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
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Who cites it
49 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Review
- DNA hypomethylation at specific CG-sites within TRAK1 is linked to the neurocognitive profile in Klinefelter syndrome.Molecular psychiatry · 2026Article
- Genes with abnormal DNA methylation in chorionic villi of spontaneous abortions with monosomy X.Journal of assisted reproduction and genetics · 2026Article
- Non-mosaic Klinefelter syndrome with high sperm count: rewriting the textbooks.Journal of assisted reproduction and genetics · 2025Article
- Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation.Journal of neurodevelopmental disorders · 2025Article
- Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes.NPJ genomic medicine · 2025Article
- Sex differences in DNA methylation across gestation: a large scale, cross-cohort, multi-tissue analysis.Cellular and molecular life sciences : CMLS · 2024Article
- The testicular microvasculature in Klinefelter syndrome is immature with compromised integrity and characterized by excessive inflammatory cross-talk.Human reproduction (Oxford, England) · 2023Article
- The impact of chromosomal sex on cardiometabolic health and disease.Trends in endocrinology and metabolism: TEM · 2023Review
- The multi-omic landscape of sex chromosome abnormalities: current status and future directions.Endocrine connections · 2023Review
- X chromosome dosage and the genetic impact across human tissues.Genome medicine · 2023Article
- New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY.Endocrine connections · 2023Review
- Analysis of genetic variability in Turner syndrome linked to long-term clinical features.Frontiers in endocrinology · 2023Article
- Integrative epigenome profiling of 47XXY provides insights into whole genomic DNA hypermethylation and active chromatin accessibility.Frontiers in molecular biosciences · 2023Article
- Hyperglycemia in Turner syndrome: Impact, mechanisms, and areas for future research.Frontiers in endocrinology · 2023Review
- DNA Hypermethylation and a Specific Methylation Spectrum on the X Chromosome in Turner Syndrome as Determined by Nanopore Sequencing.Journal of personalized medicine · 2022Article
- The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome.Journal of developmental biology · 2022Review
- Investigation of hub genes involved in Turner syndrome using biological informatics methods.Medicine · 2022Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAbnormal sex chromosome numbers in humans are observed in Turner (45,X) and Klinefelter (47,XXY) syndromes. Both syndromes are associated with several clinical phenotypes, whose molecular mechanisms are obscure, and show a range of inter-individual penetrance. In order to understand the effect of abnormal numbers of X chromosome on the methylome and its correlation to the variable clinical phenotype, we performed a genome-wide methylation analysis using MeDIP and Illumina's Infinium assay on individuals with four karyotypes: 45,X, 46,XY, 46,XX, and 47,XXY.
resultsDNA methylation changes were widespread on all autosomal chromosomes in 45,X and in 47,XXY individuals, with Turner individuals presenting five times more affected loci. Differentially methylated CpGs, in most cases, have intermediate methylation levels and tend to occur outside CpG islands, especially in individuals with Turner syndrome. The X inactivation process appears to be less effective in Klinefelter syndrome as methylation on the X was decreased compared to normal female samples. In a large number of individuals, we verified several loci by pyrosequencing and observed only weak inter-loci correlations between the verified regions. This suggests a certain stochastic/random contribution to the methylation changes at each locus. Interestingly, methylation patterns on some PAR2 loci differ between male and Turner syndrome individuals and between female and Klinefelter syndrome individuals, which possibly contributed to this distinguished and unique autosomal methylation patterns in Turner and Klinefelter syndrome individuals.
conclusionsThe presented data clearly show that gain or loss of an X chromosome results in different epigenetic effects, which are not necessary opposite.
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