DGCR8haploinsufficiency leads to primate-specific RNA dysregulation and pluripotency defects
A Colomer-Boronat,
LI Knol,
G Peris
et al.
Abstract:The 22q11.2 deletion syndrome (22qDS) is caused by a microdeletion in chromosome 22, including DGCR8, an essential gene for miRNA production. The contribution of human DGCR8 hemizygosity to the disease is still unclear. In this study, we generated two human pluripotent cell models containing a single functional DGCR8 allele to elucidate its role on 22qDS. DGCR8+/- cells show increased apoptosis as well as self-renewal and differentiation defects in both the naive and primed states. The expression of primate-sp… Show more
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