Article

<i>DGCR8</i> haploinsufficiency leads to primate-specific RNA dysregulation and pluripotency defects

2024-05-03

Abstract excerpt

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 s...

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Literature Corpus work: cddecf63-978e-53b2-8372-3a2b4eb3ebec
DOI: 10.1101/2024.05.02.592145

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