Craniofacial Defects in Embryos with Homozygous Deletion of <i>Eftud2</i> in Their Neural Crest Cells Are Not Rescued by <i>Trp53</i> Deletion.

ABSTRACT: Embryos with homozygous mutation of Eftud2 in their neural crest cells (Eftud2^ncc-/-) have brain and craniofacial malformations, hyperactivation of the P53-pathway and die before birth. Treatment of Eftud2^ncc-/- embryos with pifithrin-α, a P53-inhibitor, partly improved brain and craniofacial development. To uncover if craniofacial malformations and death were indeed due to P53 hyperactivation we generated embryos with homozygous loss of function mutations in both Eftud2 and Trp53 in the neural crest cells. We evaluated the molecular mechanism underlying craniofacial development in pifithrin-α-treated embryos and in Eftud2; Trp53 double homozygous (Eftud2^ncc-/-; Trp53^ncc-/-) mutant em

SUBMITTER: Beauchamp MC 

PROVIDER: S-EPMC9409426 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature