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Generation and Characterization of Twist1 Acetyl-Mimic and Acetyl-Deficient Mouse Models
Mary Elmeniawi1, Xiaobin Yu2, Samuel Wen1
1Department of Diagnostic and Biomedical Sciences, Center for Craniofacial Research, School of Dentistry, University of Texas Health Science Center at Houston, Houston, Texas, USA.
Genesis (New York, N.Y. : 2000)
|June 18, 2026
Summary
TWIST1 acetylation at K73 and K76 is vital for craniofacial development. Loss of acetylation causes severe skeletal defects, while mimicking acetylation leads to milder abnormalities in mice.
Area of Science:
- Developmental Biology
- Genetics
- Molecular Biology
Background:
- TWIST1 is a conserved transcription factor crucial for embryonic development.
- Post-translational modifications, like phosphorylation and acetylation, regulate TWIST1 activity.
- Acetylation at K73 and K76 shifts TWIST1 to an activating state during epithelial-to-mesenchymal transition (EMT) in cancer.
Purpose of the Study:
- To investigate the in vivo and developmental functions of TWIST1 acetylation at K73 and K76.
- To determine the physiological role of TWIST1 acetylation in craniofacial development.
Main Methods:
- Generated acetyl-deficient (Twist1K73,76R) and acetyl-mimic (Twist1K73,76Q) mouse models using CRISPR/Cas9.
- Confirmed genetic substitutions via targeted sequencing.
- Analyzed phenotypes of mutant mice, focusing on craniofacial development.
Main Results:
- Acetyl-deficient mice displayed severe craniofacial abnormalities: mandibular hypoplasia, bone fusion, cartilage replacement of bones, ocular malformations, and reduced skull mineralization.
- Acetyl-mimic mice showed milder defects, including reduced mandibular processes, palatine bones, and skull mineralization.
- These findings highlight the critical role of TWIST1 acetylation in craniofacial skeletogenesis.
Conclusions:
- TWIST1 acetylation at K73 and K76 is essential for normal craniofacial development.
- The acetylation status of TWIST1 influences its role in skeletogenesis, impacting embryonic development.
- Results support cancer studies indicating reduced oncogenic activity upon loss of TWIST1 acetylation.
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