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

By L. Carrel, H. Willard. Nature, 2005

2,042 citations recorded by the source corpus.

Subfields: Gender Studies, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/11d941a39f1903fcb301f5a05bde02e73f460020

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Citations in the corpus

Emerging functional and mechanistic paradigms of mammalian long non-coding RNAs (2012, background): “It is currently not known what prevents Xist from ‘escaping’ the inactive X and acting on the active X or other chromosomes, in trans, or how Xist is prevented from silencing genes that escape X inactivation; as many as 20%of genes escapeXi in human females (40,41).”
The impact of sex on gene expression across human tissues (2020, background): “Only 30 genes (0.23%), 22 of which are known constitutiveXCI escapees (table S3), exhibited consistent sex bias across all 44 tissue sources (Fig.”
The neurobiology of multiple sclerosis: genes, inflammation, and neurodegeneration. (2006, background): “Furthermore , interpretation of genomic data must take into account that variants of interest may result from segmental duplications (Fredman et al., 2004), inversions (Stefansson et al., 2005), loss of imprinting (Mummert et al., 2005), paralogous or other regions with polymorphic genomic imbalance”
The X chromosome in immune functions: when a chromosome makes the difference (2010, background): “However, there are exceptions, and some genes on the X chromosome are known to escape silencin”
X chromosomal abnormalities in basal-like human breast cancer. (2006, methodology): “Finally, genes that can sometimes escape XCI when located on Xi (Carrel and Willard, 2005) were overrepresented among the overexpressed, X-encoded genes in BLC.”
Analysis of the vertebrate insulator protein CTCF-binding sites in the human genome. (2007, neutral): “A recent study shows that X inactivation is not uniform along the inactive X chromosome (Carrel and Willard, 2005) and identifies a number of gene clusters that can escape the chromosome-wide heterochromatin formation.”
A Novel CpG Island Set Identifies Tissue-Specific Methylation at Developmental Gene Loci (2008, background): “Studies of human X chromosome inactivation have indicated that a proportion of genes escape inactivation and are therefore expressed from both chromosomes [26,27].”
Child health, developmental plasticity, and epigenetic programming. (2011, methodology): “Fibroblasts from women, where about 15% of X-linked genes escape inactivation, have been used to study polymorphisms in genes of interest (310); somatic mouse-human cell hybrids that contain either Xa or Xi have been used to study transcription of genes of interest, which are normalized to a known g”
Inherited epigenetic variation — revisiting soft inheritance (2006, background): “Among individuals in a population, however, epigenetic variation might have a significant role in controlling phenotypic variatio”
Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome (2007, methodology): “For the X inactivation analysis, we matched X-linked promoters to the genes assayed in a recent comprehensive X inactivation profile in human cell”
Functional normalization of 450k methylation array data improves replication in large cancer studies (2014, positive): “Because some genes have been shown to escape X inactivation [44], we only consider genes for which the X-inactivation status is known to ensure an unbiased sex prediction (see Materials and methods).”