Chordin as a Modifier of Tbx1 in Craniofacial Malformations
Author Information
Author(s): Choi Murim, Klingensmith John, Morrow Bernice E.
Primary Institution: Duke University Medical Center
Hypothesis
Could an unidentified second-site lesion modify the craniofacial consequences of TBX1 deficiency?
Conclusion
Chordin is a modifier for the craniofacial anomalies of Tbx1 mutations, indicating a second-site modifier for specific phenotypes associated with 22q11 deletion syndrome.
Supporting Evidence
- Chordin mutations in mice lead to defects similar to those seen in 22q11 deletion syndrome.
- Chordin's effect on Tbx1 expression was observed in the pharyngeal region.
- Different genetic backgrounds in mice resulted in varying penetrance of craniofacial defects.
Takeaway
This study found that a gene called chordin affects how another gene, Tbx1, causes facial problems in mice, showing that there are hidden factors that can change how these problems show up.
Methodology
The study involved breeding mice with specific genetic mutations and analyzing the resulting phenotypes.
Limitations
The study primarily focuses on mouse models, which may not fully replicate human conditions.
Participant Demographics
Mice of different genetic backgrounds were used in the study.
Statistical Information
P-Value
0.029
Statistical Significance
p=0.029
Digital Object Identifier (DOI)
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