X-inactivation profile reveals extensive variability in X-linked gene expression in females

@article{Carrel2005XinactivationPR,
  title={X-inactivation profile reveals extensive variability in X-linked gene expression in females},
  author={L. Carrel and H. Willard},
  journal={Nature},
  year={2005},
  volume={434},
  pages={400-404}
}
In female mammals, most genes on one X chromosome are silenced as a result of X-chromosome inactivation. [...] Key Result In total, about 15% of X-linked genes escape inactivation to some degree, and the proportion of genes escaping inactivation differs dramatically between different regions of the X chromosome, reflecting the evolutionary history of the sex chromosomes. An additional 10% of X-linked genes show variable patterns of inactivation and are expressed to different extents from some inactive X…Expand

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Differences in the identity and distribution of escape genes between species and tissues suggest a role for these genes in the evolution of sex differences in specific phenotypes and suggests that they may have female-specific roles and be responsible for some of the phenotypes observed in X aneuploidy. Expand
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TLDR
The current understanding of the mechanisms underlying silencing and escape on the X chromosome as well as additional differences between the X in males and females that may contribute to Klinefelter syndrome are discussed. Expand
Derivation of consensus inactivation status for X-linked genes from genome-wide studies
TLDR
This analysis aggregated three published studies that have examined X chromosome inactivation status of genes across the X chromosome, generating consensus calls and identifying discordancies to compile a comprehensive list of X-chromosome inactivation statuses for genes. Expand
Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation
TLDR
Three autosomal genetic loci are identified that associate with differential DNA methylation near genes that variably escape XCI in females, suggesting a genetic basis for variable escape from XCI and highlighting the potential of a population genomics approach to identify genes involved in XCI. Expand
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TLDR
Both human and mouse escape genes are discussed, with the greater number in humans allowing more depth of comparisons, but mouse breeding and manipulation allowing more controlled studies and refined developmental analyses. Expand
Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion
TLDR
Interestingly, transcriptome-wide analysis revealed that escape and variable escape genes spanning the deletion are mostly upregulated on the active X-chromosome, precluding major clinical/cognitive phenotypes in the female, suggesting that an additional protective gene-by-gene mechanism occurs at the transcriptional level in theactive X- chromosome to counterbalance detrimental phenotype effects of large Xq deletions. Expand
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts
TLDR
It is found that this effect is associated with cell-cycle phases and, independently, with the XIST expression level, which is higher in the quiescent phase (G0). Expand
X chromosome gene expression in human tissues: male and female comparisons.
TLDR
It is indicated that factors other than the X-inactivation process may impact on the expression of X-linked genes resulting in an overall similar gender expression for both X- linked and autosomal genes. Expand
Escape from X Inactivation Varies in Mouse Tissues
TLDR
Using a binomial model to assess allelic expression, a continuum between complete silencing and expression from the inactive X (Xi) is demonstrated, and common escape genes and genes with significant differences in XCI status between tissues were identified. Expand
Human Genes Escaping X-inactivation Revealed by Single Cell Expression Data
TLDR
X-chromosome inactivation and escaping from it are robust, permanent phenomena that are best studies at a single-cell resolution and contribute to the cumulative knowledge and reliability of human escapees. Expand
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