ArticleJournal of medical genetics2015
Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues.
Article in Journal of medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a NovelInternational journal of molecular sciences · 2024Article
- Skewed X-inactivation is associated with retinal dystrophy in female carriers ofLife science alliance · 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
- Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021Review
- Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age.Nature communications · 2019Article
- X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.Scientific reports · 2019Article
- Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.Molecular genetics & genomic medicine · 2019Article
- De novo mosaicClinical case reports · 2019Article
- Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.American journal of medical genetics. Part A · 2019Article
- Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.Virchows Archiv : an international journal of pathology · 2018Article
- Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.Journal of human genetics · 2018Article
- Genome-wide DNA methylation profiling using the methylation-dependent restriction enzyme LpnPI.Genome research · 2018Article
- X chromosome inactivation in a female carrier of a 1.28 Mb deletion encompassing the human X inactivation centre.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Article
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Authors and funding
5 authors.
Funding
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Abstract
backgroundAs a result of the epigenetic phenomenon of X chromosome inactivation (XCI) every woman is a mosaic of cells with either an inactive paternal X chromosome or an inactive maternal X chromosome. The ratio between inactive paternal and maternal X chromosomes is different for every female individual, and can influence an X-encoded trait or disease. A multitude of X linked conditions is known, and for many of them it is recognised that the phenotype in affected female carriers of the causative mutation is modulated by the XCI ratio. To predict disease severity an XCI ratio is usually determined in peripheral blood samples. However, the correlation between XCI ratios in peripheral blood and disease affected tissues, that are often inaccessible, is poorly understood. Here, we tested several tissues obtained from autopsies of 12 female individuals for patch size and XCI ratio.
methodsXCI ratios were analysed using methyl-sensitive PCR-based assays for the AR, PCSK1N and SLITRK4 loci. XCI patch size was analysed by testing the XCI ratio of tissue samples with decreasing size.
resultsXCI patch size was analysed for liver, muscle, ovary and brain samples and was found too small to confound testing for XCI ratio in these tissues. XCI ratios were determined in the easily accessible tissues, blood, buccal epithelium and hair follicle, and compared with ratios in several inaccessible tissues.
conclusionsBuccal epithelium is preferable over peripheral blood for predicting XCI ratios of inaccessible tissues. Ovary is the only inaccessible tissue showing a poor correlation to blood and buccal epithelium, but has a good correlation to hair follicle instead.
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