ArticleGenome research2004
Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse.
Article in Genome research, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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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
36 citing papers in PubMed, 58 citations in OpenAlex.
- Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids.Nature communications · 2026Article
- Human Coronavirus Infection Reorganizes Spatial Genomic Architecture in Permissive Lung Cells.Research square · 2024Article
- Sex differences in susceptibility to substance use disorder: Role for X chromosome inactivation and escape?Molecular and cellular neurosciences · 2023Review
- Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.Frontiers in genetics · 2020Article
- Heterozygous loss of function ofLife science alliance · 2019Article
- X Inactivation and Escape: Epigenetic and Structural Features.Frontiers in cell and developmental biology · 2019Review
- Human cis-acting elements regulating escape from X-chromosome inactivation function in mouse.Human molecular genetics · 2018Article
- Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.European journal of human genetics : EJHG · 2017Article
- Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.European journal of human genetics : EJHG · 2016Article
- Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.American journal of medical genetics. Part A · 2015Article
- Dynamics of gene silencing during X inactivation using allele-specific RNA-seq.Genome biology · 2015Article
- Lineage-specific regulation of imprinted X inactivation in extraembryonic endoderm stem cells.Epigenetics & chromatin · 2014Article
- Genes that escape X-inactivation in humans have high intraspecific variability in expression, are associated with mental impairment but are not slow evolving.Molecular biology and evolution · 2013Article
- Deletion of an X-inactivation boundary disrupts adjacent gene silencing.PLoS genetics · 2013Article
- Aberrant promoter hypermethylation of PBRM1, BAP1, SETD2, KDM6A and other chromatin-modifying genes is absent or rare in clear cell RCC.Epigenetics · 2013Article
- Genome-wide promoter methylome of small renal masses.PloS one · 2013Article
- Abundance of female-biased and paucity of male-biased somatically expressed genes on the mouse X-chromosome.BMC genomics · 2012Article
- Clustered transcripts that escape X inactivation at mouse XqD.Mammalian genome : official journal of the International Mammalian Genome Society · 2011Article
- Genes that escape from X inactivation.Human genetics · 2011Review
- The demoiselle of X-inactivation: 50 years old and as trendy and mesmerising as ever.PLoS genetics · 2011Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
We have performed X-inactivation and sequence analyses on 350 kb of sequence from human Xp11.2, a region shown previously to contain a cluster of genes that escape X inactivation, and we compared this region with the region of conserved synteny in mouse. We identified several new transcripts from this region in human and in mouse, which defined the full extent of the domain escaping X inactivation in both species. In human, escape from X inactivation involves an uninterrupted 235-kb domain of multiple genes. Despite highly conserved gene content and order between the two species, Smcx is the only mouse gene from the conserved segment that escapes inactivation. As repetitive sequences are believed to facilitate spreading of X inactivation along the chromosome, we compared the repetitive sequence composition of this region between the two species. We found that long terminal repeats (LTRs) were decreased in the human domain of escape, but not in the majority of the conserved mouse region adjacent to Smcx in which genes were subject to X inactivation, suggesting that these repeats might be excluded from escape domains to prevent spreading of silencing. Our findings indicate that genomic context, as well as gene-specific regulatory elements, interact to determine expression of a gene from the inactive X-chromosome.
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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.