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Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.

Human molecular genetics - 28 May 2021

Beauchamp Marie-Claude, Djedid Anissa, Bareke Eric, Merkuri Fjodor, Aber Rachel, Tam Annie S, Lines Matthew A, Boycott Kym M, Stirling Peter C, Fish Jennifer L, Majewski Jacek, Jerome-Majewska Loydie A

Abstract excerpt

EFTUD2 is mutated in patients with mandibulofacial dysostosis with microcephaly (MFDM). We generated a mutant mouse line with conditional mutation in Eftud2 and used Wnt1-Cre2 to delete it in neural crest cells. Homozygous deletion of Eftud2 causes brain and craniofacial malformations, affecting the same precursors as in MFDM patients. RNAseq analysis of embryonic heads revealed a significant increase in exon...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Peptide Elongation Factors

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Identifiers

PMID: 33601405
DOI: 10.1093/hmg/ddab051
PMCID: PMC8161524

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Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.PMID 33601405Read ↗

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