Abstract Example

Please follow this format when submitting your Abstract:

Cellular, molecular and genetic basis for the craniofacial phenotype of the avian mutant, talpid2

Ching-Fang Chang1,2, Elizabeth N. Schock1,2, Mary E. Delany3 and Samantha A. Brugmann1,2
1Division of Plastic Surgery, Department of Surgery, Cincinnati Children’s Hospital Medical Center, Cincinnati OH, 2Division of Developmental Biology, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati OH,3 College of Agricultural and Environmental Sciences, Department of Animal Sciences, University of California, Davis, Davis CA
The chicken talpid2 is an autosomal recessive mutant with a myriad of congenital malformations, including facial clefting. Although phenotypically similar to its sister strain talpid3, talpid2 has a distinct facial phenotype and an unknown molecular and genetic basis. We set out to characterize the talpid2 craniofacial phenotype and determine the cellular, molecular and genetic etiology of the mutant. Cellularly, we detected aberrant levels of apoptosis localized within the maxillary mesenchyme. Molecularly, we found disruptions to the Hedgehog pathway indicative of disrupted primary cilia. Post-translational processing of Gli2 and Gli3 was aberrant in the developing facial prominences. We found that whereas both Gli2 and Gli3 processing were disrupted in talpid2 mutants, only nuclear Gli3A levels were significantly altered between control and talpid2embryos. Finally, we identified the talpid2 phenotype as being linked to a 1.4Mb loci on GGA1q that contains the ciliary protein C2CD3. These results suggest a cellular, molecular and genetic cause for the talpid2craniofacial phenotype and surmise that the talpid2, whereas similar in molecular etiology to talpid3, is caused by a separate and distinct mutation in a ciliary protein. This work is supported by NIH/NIDCR 5R00DE019853.