ArticleEuropean journal of human genetics : EJHG2013
Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 58 citations in OpenAlex.
- X-linked competition - implications for human development and disease.Nature reviews. Genetics · 2025Review
- Distributed X chromosome inactivation in brain circuitry is associated with X-linked disease penetrance of behavior.Cell reports · 2024Article
- X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers.European journal of human genetics : EJHG · 2021Article
- Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq).BMC nephrology · 2020Article
- The X chromosome and sex-specific effects in infectious disease susceptibility.Human genomics · 2019Review
- A statistical measure for the skewness of X chromosome inactivation based on case-control design.BMC bioinformatics · 2019Article
- The X Files: "The Mystery of X Chromosome Instability in Alzheimer's Disease".Frontiers in genetics · 2019Review
- Sex Chromosome Effects on Male-Female Differences in Mammals.Current biology : CB · 2018Review
- A powerful parent-of-origin effects test for qualitative traits on X chromosome in general pedigrees.BMC bioinformatics · 2018Article
- Selection of X-chromosome Inactivation Model.Cancer informatics · 2017Article
- X Chromosome Inactivation in Opioid Addicted Women.Basic and clinical neuroscience · 2015Article
- X-chromosome genetic association test accounting for X-inactivation, skewed X-inactivation, and escape from X-inactivation.Genetic epidemiology · 2014Article
- Changes in sex ratio from fertilization to birth in assisted-reproductive-treatment cycles.Reproductive biology and endocrinology : RB&E · 2014Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
In eutherian mammals, one X-chromosome in every XX somatic cell is transcriptionally silenced through the process of X-chromosome inactivation (XCI). Females are thus functional mosaics, where some cells express genes from the paternal X, and the others from the maternal X. The relative abundance of the two cell populations (X-inactivation pattern, XIP) can have significant medical implications for some females. In mice, the 'choice' of which X to inactivate, maternal or paternal, in each cell of the early embryo is genetically influenced. In humans, the timing of XCI choice and whether choice occurs completely randomly or under a genetic influence is debated. Here, we explore these questions by analysing the distribution of XIPs in large populations of normal females. Models were generated to predict XIP distributions resulting from completely random or genetically influenced choice. Each model describes the discrete primary distribution at the onset of XCI, and the continuous secondary distribution accounting for changes to the XIP as a result of development and ageing. Statistical methods are used to compare models with empirical data from Danish and Utah populations. A rigorous data treatment strategy maximises information content and allows for unbiased use of unphased XIP data. The Anderson-Darling goodness-of-fit statistics and likelihood ratio tests indicate that a model of genetically influenced XCI choice better fits the empirical data than models of completely random choice.
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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.