ArticleHuman molecular genetics2014
DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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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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Who cites it
26 citing papers in PubMed, 48 citations in OpenAlex.
- Reprogramming the inactive X chromosome: dynamics and insights from the germline.Biochemical Society transactions · 2026Review
- Modification of internal RNA domains from the long non-coding RNA XIST refines roles in silencing and heterochromatin recruitment.Human molecular genetics · 2026Article
- Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context.Human molecular genetics · 2025Article
- Functional identification of DNA demethylase geneFrontiers in plant science · 2024Article
- Review
- Derivation and validation of a risk classification tree for patients with synovial sarcoma.Cancer medicine · 2023Article
- Dosage compensation evolution in plants: theories, controversies and mechanisms.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Escape From X-Chromosome Inactivation: An Evolutionary Perspective.Frontiers in cell and developmental biology · 2019Review
- Convergence in LINE-1 nucleotide variations can benefit redundantly forming triplexes with lncRNA in mammalian X-chromosome inactivation.Mobile DNA · 2019Article
- X inactivation in a mammal species with three sex chromosomes.Chromosoma · 2018Article
- Transcriptional modulation of entire chromosomes: dosage compensation.Journal of genetics · 2018Review
- Systematic analysis of DEMETER-like DNA glycosylase genes shows lineage-specific Smi-miR7972 involved in SmDML1 regulation in Salvia miltiorrhiza.Scientific reports · 2018Article
- Human cis-acting elements regulating escape from X-chromosome inactivation function in mouse.Human molecular genetics · 2018Article
- Ten principles of heterochromatin formation and function.Nature reviews. Molecular cell biology · 2018Review
- When the Lyon(ized chromosome) roars: ongoing expression from an inactive X chromosome.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
- Genetic and epigenetic features direct differential efficiency of Xist-mediated silencing at X-chromosomal and autosomal locations.Nature communications · 2017Article
- YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses.Scientific reports · 2016Article
- RNA as a fundamental component of interphase chromosomes: could repeats prove key?Current opinion in genetics & development · 2016Review
- Sex-specific silencing of X-linked genes by Xist RNA.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
X chromosome inactivation (XCI) is an epigenetic mechanism that silences the majority of genes on one X chromosome in females. Previous studies have suggested that the spread of XCI might be facilitated in part by common repeats such as long interspersed nuclear elements (LINEs). However, owing to the unusual sequence content of the X and the nonrandom distribution of genes that escape XCI, it has been unclear whether the correlation between repeat elements and XCI is a functional one. To test the hypothesis that the spread of XCI shows sequence specificity, we have analyzed the pattern of XCI in autosomal chromatin by performing DNA methylation profiling in six unbalanced X;autosome translocations. Using promoter hypermethylation as an epigenetic signature of XCI, we have determined the inactivation status of 1050 autosomal genes after translocation onto an inactive derivative X. By performing a comparative sequence analysis of autosomal genes that are either subject to or escape the X inactivation signal, we identified a number of common repetitive elements, including L1 and L2 LINEs, and DNA motifs that are significantly enriched around inactive autosomal genes. We show that these same motifs predominantly map to L1P repeat elements, are significantly enriched on the X chromosome versus the autosomes and also occur at higher densities around X-linked genes that are subject to X inactivation compared with those that escape X inactivation. These results are consistent with a potential causal relationship between DNA sequence features such as L1s and the spread of XCI, lending strong support to Mary Lyon's 'repeat hypothesis'.
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Registered trials
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