ArticleNature communications2018
Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- SMCHD1 Is Dispensable for Repeat-Induced FMR1 Hypermethylation in Fragile X Pluripotent Stem Cells.International journal of molecular sciences · 2026Article
- Identification of SENP7 and UTF1/VENTX as new loci influencing clustered protocadherin methylation across blood and brain using a genome-wide association study.Molecular psychiatry · 2026Article
- Value ofTranslational cancer research · 2025Article
- Integrative pigGTEx resource with GWAS reveals genetic mechanism underlying semen quality in boars.Journal of animal science and biotechnology · 2025Article
- Maintenance of X chromosome inactivation after T cell activation requires NF-κB signaling.Science immunology · 2024Article
- Utilizing multimodal approach to identify candidate pathways and biomarkers and predicting frailty syndrome in individuals from UK Biobank.GeroScience · 2024Article
- Review
- Impaired dynamic X-chromosome inactivation maintenance in T cells is a feature of spontaneous murine SLE that is exacerbated in female-biased models.Journal of autoimmunity · 2023Article
- The inactive X chromosome accumulates widespread epigenetic variability with age.Clinical epigenetics · 2023Article
- Identification of USP9X as a leukemia susceptibility gene.Blood advances · 2023Article
- ASMdb: a comprehensive database for allele-specific DNA methylation in diverse organisms.Nucleic acids research · 2022Article
- A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.Scientific reports · 2021Article
- Autosomal sex-associated co-methylated regions predict biological sex from DNA methylation.Nucleic acids research · 2021Article
- Contribution of genetic and epigenetic changes to escape from X-chromosome inactivation.Epigenetics & chromatin · 2021Article
- Article
- Missense variant contribution to USP9X-female syndrome.NPJ genomic medicine · 2020Article
- Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans.Genetics · 2019Article
- The Effect of Genetic Variation on the Placental Transcriptome in Humans.Frontiers in genetics · 2019Article
- Review
Corrections and comments
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Authors and funding
29 authors at 11 institutions in 4 countries.
Funding
Abstract
X-chromosome inactivation (XCI), i.e., the inactivation of one of the female X chromosomes, restores equal expression of X-chromosomal genes between females and males. However, ~10% of genes show variable degrees of escape from XCI between females, although little is known about the causes of variable XCI. Using a discovery data-set of 1867 females and 1398 males and a replication sample of 3351 females, we show that genetic variation at three autosomal loci is associated with female-specific changes in X-chromosome methylation. Through cis-eQTL expression analysis, we map these loci to the genes SMCHD1/METTL4, TRIM6/HBG2, and ZSCAN9. Low-expression alleles of the loci are predominantly associated with mild hypomethylation of CpG islands near genes known to variably escape XCI, implicating the autosomal genes in variable XCI. Together, these results suggest a genetic basis for variable escape from XCI and highlight the potential of a population genomics approach to identify genes involved in XCI.
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