The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.
Daniel A NewkirkYen-Yun ChenRichard ChienWeihua ZengJacob BiesingerEbony FlowersShimako KawauchiRosaysela SantosAnne L CalofArthur D LanderXiaohui XieKyoko YokomoriPublished in: Clinical epigenetics (2017)
Decreased cohesin binding at the gene regions is directly linked to disease-specific expression changes. Taken together, our Nipbl haploinsufficiency model allows us to analyze the dosage effect of cohesin loading on CdLS development.