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. 2020 Jun 9;21(11):4115. doi: 10.3390/ijms21114115

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© 2020 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Synopsis of phenotypes produced by Zrsr1 and Zrsr2 mutations. Upper panel shows that mutation of maternal Zrsr2 and paternal Zrsr1 blocked early embryo development during zygotic gene activation (ZGA) and increased intron retention in U2- and U12-containing genes; and that mutation of either Zrsr1 or Zrsr2 led to a blockade of induced pluripotent stem cell (iPSC) conversion to 2C-like cells. The bottom panel shows gene ontology (GO) enrichment terms related to these phenotypes, indicating that disturbed U12-containing genes are critical for cell division, differentiation, and DNA damage response.