ArticlePloS one2011
A longitudinal twin study of skewed X chromosome-inactivation.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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The trial behind it
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
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- Systematic review of CMTX1 patients with episodic neurological dysfunction.Annals of clinical and translational neurology · 2021Pooled it
- No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.Scientific reports · 2016Pooled it
- X chromosome inactivation skewing is common in advanced carotid atherosclerotic lesions in females and predicts secondary peripheral artery events.Biology of sex differences · 2023Article
- Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable.PLoS genetics · 2023Article
- Article
- Use of theGenes · 2022Article
- Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy.Journal of personalized medicine · 2022Review
- A statistical measure for the skewness of X chromosome inactivation for quantitative traits and its application to the MCTFR data.BMC genomic data · 2021Article
- Skewness of X-chromosome inactivation increases with age and varies across birth cohorts in elderly Danish women.Scientific reports · 2021Article
- The multifaceted functional role of DNA methylation in immune-mediated rheumatic diseases.Clinical rheumatology · 2021Review
- Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.Neurogenetics · 2020Article
- (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.Molecular genetics & genomic medicine · 2020Article
- Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age.Nature communications · 2019Article
- X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects.Journal of genetics · 2019Article
- Epigenetic variability in conversion to psychosis: novel findings from an innovative longitudinal methylomic analysis.Translational psychiatry · 2018Article
- Intragenomic Conflict and Immune Tolerance: Do Selfish X-Linked Alleles Drive Skewed X Chromosome Inactivation?Genome biology and evolution · 2018Article
- Selection of X-chromosome Inactivation Model.Cancer informatics · 2017Article
- FARVATX: Family-Based Rare Variant Association Test for X-Linked Genes.Genetic epidemiology · 2016Article
- It is time to take timing seriously in clinical genetics.European journal of human genetics : EJHG · 2015Article
- Longitudinal weight differences, gene expression and blood biomarkers in BMI-discordant identical twins.International journal of obesity (2005) · 2015Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
X-chromosome inactivation (XCI) is a pivotal epigenetic mechanism involved in the dosage compensation of X-linked genes between males and females. In any given cell, the process of XCI in early female development is thought to be random across alleles and clonally maintained once established. Recent studies, however, suggest that XCI might not always be random and that skewed inactivation may become more prevalent with age. The factors influencing such XCI skewing and its changes over time are largely unknown. To elucidate the influence of stochastic, heritable and environmental factors in longitudinal changes in XCI, we examined X inactivation profiles in a sample of monozygotic (MZ) (n = 23) and dizygotic (DZ) (n = 22) female twin-pairs at ages 5 and 10 years. Compared to MZ twins who were highly concordant for allelic XCI ratios, DZ twins showed much lower levels of concordance. Whilst XCI patterns were moderately stable between ages 5 and 10 years, there was some drift over time with an increased prevalence of more extreme XCI skewing at age 10. To our knowledge, this study represents the earliest longitudinal assessment of skewed XCI patterns, and suggests that skewed XCI may already be established in early childhood. Our data also suggest a link between MZ twinning and the establishment of allelic XCI ratios, and demonstrate that acquired skewing in XCI after establishment is primarily mediated by stochastic mechanisms. These data have implications for our understanding about sex differences in complex disease, and the potential causes of phenotypic discordance between MZ female twins.
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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.