ArticleHuman molecular genetics2014
Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains.
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 41 papers.
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Who cites it
41 citing papers in PubMed, 106 citations in OpenAlex.
- Escape From X-Chromosome Inactivation Enables Survival in a Male With an Unbalanced X;19 Translocation.Annals of the New York Academy of Sciences · 2026Article
- Modification of internal RNA domains from the long non-coding RNA XIST refines roles in silencing and heterochromatin recruitment.Human molecular genetics · 2026Article
- X;7 Translocation at p21.1 and q31.31 DisruptingHuman mutation · 2026Article
- Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context.Human molecular genetics · 2025Article
- Cytogenetic bands and sharp peaks of Alu underlie large-scale segmental regulation of nuclear genome architecture.Nucleus (Austin, Tex.) · 2024Article
- Trisomy silencing by XIST: translational prospects and challenges.Human genetics · 2024Review
- Differences in Alu vs L1-rich chromosome bands underpin architectural reorganization of the inactive-X chromosome and SAHFs.bioRxiv : the preprint server for biology · 2024Article
- Review
- Refining the genomic determinants underlying escape from X-chromosome inactivation.NAR genomics and bioinformatics · 2023Article
- Differential Regulation of Mouse Hippocampal Gene Expression Sex Differences by Chromosomal Content and Gonadal Sex.Molecular neurobiology · 2022Article
- Dosage compensation evolution in plants: theories, controversies and mechanisms.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- The control of polycomb repressive complexes by long noncoding RNAs.Wiley interdisciplinary reviews. RNA · 2021Review
- Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements.Clinical epigenetics · 2021Article
- Contribution of genetic and epigenetic changes to escape from X-chromosome inactivation.Epigenetics & chromatin · 2021Article
- A human isogenic iPSC-derived cell line panel identifies major regulators of aberrant astrocyte proliferation in Down syndrome.Communications biology · 2021Article
- Cross-species examination of X-chromosome inactivation highlights domains of escape from silencing.Epigenetics & chromatin · 2021Article
- Satellite DNA in Neotropical Deer Species.Genes · 2021Article
- Meiosis reveals the early steps in the evolution of a neo-XY sex chromosome pair in the African pygmy mouse Mus minutoides.PLoS genetics · 2020Article
- Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- lncRNA-Induced Spread of Polycomb Controlled by Genome Architecture, RNA Abundance, and CpG Island DNA.Molecular cell · 2019Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
Abstract
X-chromosome inactivation results in dosage equivalence between the X chromosome in males and females; however, over 15% of human X-linked genes escape silencing and these genes are enriched on the evolutionarily younger short arm of the X chromosome. The spread of inactivation onto translocated autosomal material allows the study of inactivation without the confounding evolutionary history of the X chromosome. The heterogeneity and reduced extent of silencing on autosomes are evidence for the importance of DNA elements underlying the spread of silencing. We have assessed DNA methylation in six unbalanced X-autosome translocations using the Illumina Infinium HumanMethylation450 array. Two to 42% of translocated autosomal genes showed this mark of silencing, with the highest degree of inactivation observed for trisomic autosomal regions. Generally, the extent of silencing was greatest close to the translocation breakpoint; however, silencing was detected well over 100 kb into the autosomal DNA. Alu elements were found to be enriched at autosomal genes that escaped from inactivation while L1s were enriched at subject genes. In cells without the translocation, there was enrichment of heterochromatic features such as EZH2 and H3K27me3 for those genes that become silenced when translocated, suggesting that underlying chromatin structure predisposes genes towards silencing. Additionally, the analysis of topological domains indicated physical clustering of autosomal genes of common inactivation status. Overall, our analysis indicated a complex interaction between DNA sequence, chromatin features and the three-dimensional structure of the chromosome.
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