Article
Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation.
Nature communications - 14 Sept 2018
Luijk René, Wu Haoyu, Ward-Caviness Cavin K, Hannon Eilis, Carnero-Montoro Elena, Min Josine L, Mandaviya Pooja, Müller-Nurasyid Martina, Mei Hailiang, van der Maarel Silvere M, Relton Caroline, Mill Jonathan, Waldenberger Melanie, Bell Jordana T, Jansen Rick, Zhernakova Alexandra, Franke Lude, 't Hoen Peter A C, Boomsma Dorret I, van Duijn Cornelia M, van Greevenbroek Marleen M J, Veldink Jan H, Wijmenga Cisca, van Meurs Joyce, Daxinger Lucia, Slagboom P Eline, van Zwet Erik W, Heijmans Bastiaan T
Abstract excerpt
X-chromosome inactivation (XCI), i.e., the inactivation of one of the female X chromosomes, restores equal expression of X-chromosomal genes between females and males. However, ~10% of genes show variable degrees of escape from XCI between females, although little is known about the causes of variable XCI. Using a discovery data-set of 1867 females and 1398 males and a replication sample of 3351 females, we show...
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