ArticleJournal of medical genetics2008
Comparison of X-chromosome inactivation patterns in multiple tissues from human females.
Article in Journal of medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 193 citations in OpenAlex.
- From inactivation to intervention: X chromosome silencing in disease pathogenesis and emerging therapeutic strategies.Genes & diseases · 2026Review
- Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.Biology of sex differences · 2026Article
- MCT8 Deficiency in Females.The Journal of clinical endocrinology and metabolism · 2025Article
- Hbo1 and Msl complexes preserve differential compaction and H3K27me3 marking of active and inactive X chromosomes during mitosis.Nature cell biology · 2025Article
- Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.Genome research · 2024Article
- Population variability in X-chromosome inactivation across 10 mammalian species.Nature communications · 2024Article
- Distributed X chromosome inactivation in brain circuitry is associated with X-linked disease penetrance of behavior.Cell reports · 2024Article
- Sex differences in renal transporters: assessment and functional consequences.Nature reviews. Nephrology · 2024Review
- An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.Frontiers in genetics · 2024Article
- Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency.Molecular cytogenetics · 2023Article
- The transcriptional legacy of developmental stochasticity.Nature communications · 2023Article
- Population variability in X-chromosome inactivation across 9 mammalian species.bioRxiv : the preprint server for biology · 2023Article
- Modeling Reduced Contractility and Stiffness Using iPSC-Derived Cardiomyocytes Generated From Female Becker Muscular Dystrophy Carrier.JACC. Basic to translational science · 2023Article
- X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment.Acta neurologica Belgica · 2023Review
- Relationship between Glucose-6-Phosphate Dehydrogenase Deficiency, X-Chromosome Inactivation and Inflammatory Markers.Antioxidants (Basel, Switzerland) · 2023Article
- X-chromosome inactivation patterns depend on age and tissue but not conception method in humans.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2023Article
- Variability of cross-tissue X-chromosome inactivation characterizes timing of human embryonic lineage specification events.Developmental cell · 2022Article
- Sex and Gender Differences in Kidney Transplantation.Seminars in nephrology · 2022Review
- X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.Clinical and experimental nephrology · 2021Article
- HSD10 disease in a female: A case report and review of literature.JIMD reports · 2021Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundX-chromosome inactivation (XCI) is the mechanism by which gene dosage uniformity is achieved between female mammals with two X chromosomes and male mammals with a single X chromosome, and is thought to occur randomly. For molecular genetic testing, accessible tissues (eg blood) are commonly studied, but the relationship with inaccessible tissues (eg brain) is poorly understood. For accessible tissues to be informative for genetic analysis, a high degree of concordance of genetic findings among tissue types is required.
objectiveTo determine the relationship among multiple tissues within females at different ages (fetus to 82 years).
methodsXCI patterns were analysed using the polymorphic androgen receptor (AR) gene assay. DNA was isolated from 26 different human females without history of malignancy, using 34 autopsy tissues representing the three embryonic germ layers.
results33 of the 280 tissue samples analysed from 13 of the 26 females showed skewed XCI values (>80:20%). Average XCI value was not significantly different among the tissues, but a trend for increasing XCI variability was observed with age in blood and other tissues studied (eg the SD for all tissues studied for the 0-2 years group was 9.9% compared with 14.8% in the >60 years group). We found a significant correlation (r(s) = 0.51, p = 0.035) between XCI values for blood and/or spleen and brain tissue, and in most other tissues representing the three embryonic germ layers.
conclusionsIn our study, XCI data were comparable among accessible (eg blood) and inaccessible tissues (eg brain) in females at various ages, and may be useful for genetic testing. A trend was seen for greater XCI variability with increasing age, particularly in older women (>60 years).
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