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Springer, Human Genetics, 2(130), p. 187-201, 2011

DOI: 10.1007/s00439-011-1007-8

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Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation

Journal article published in 2011 by Allison M. Cotton, Lucia Lam, Joslynn G. Affleck, Ian M. Wilson, Maria S. Peñaherrera, Deborah E. McFadden, Michael S. Kobor, Wan L. Lam, Wendy P. Robinson, Carolyn J. Brown ORCID
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This paper is available in a repository.

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Abstract

X-chromosome inactivation (XCI) results in the differential marking of the active and inactive X with epigenetic modifications including DNA methylation. Consistent with the previous studies showing that CpG island-containing promoters of genes subject to XCI are approximately 50% methylated in females and unmethylated in males while genes which escape XCI are unmethylated in both sexes; our chromosome-wide (Methylated DNA ImmunoPrecipitation) and promoter-targeted methylation analyses (Illumina Infinium HumanMethylation27 array) showed the largest methylation difference (D = 0.12, p