A decade after the discovery that Quebec Platelet Disorder is caused by a tandem duplication, the Mitchell laboratory and collaborators demonstrate that this causes the additional copy of the duplicated PLAU gene to be on the opposite side of a CTCF genomic boundary. As a consequence, the extra copy is not insulated from the effects of a transcriptional enhancer of the adjacent VCL gene, resulting in a high level of transcription. This phenomenon is known as “enhancer hijacking”.
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This research has been published as “Enhancer-gene rewiring in the pathogenesis of Quebec platelet disorder“