Mara Sagan
Pronouns: She/Her, They/Them
Research Mentor(s): Donna Martin
Co-Presenter:
Research Mentor School/College/Department: Pediatrics-Genetics / Medicine
Presentation Date: April 20
Presentation Type: Poster
Session: Session 2 – 11am – 11:50am
Room: League Ballroom
Authors: Jelka Cimerman, Mara Sagan, Donna Martin
Presenter: 44
Abstract
CHARGE syndrome presents with developmental malformations that lead to hearing loss and balance impairment. The pathogenesis of CHARGE has been shown to be caused by a haploinsufficiency of CHD7, an ATP-dependent chromatin remodeler that plays a role in transcriptional regulation. In a previous study, the increased dosage of Sox11, an SRY-Box transcription factor, was reported to cause CHARGE-like features. Here we tested whether Sox11 and Chd7 function together in a genetic regulatory network in the developing mouse otocyst. We explored the effects of the Sox11 deletion using the Cre-loxP recombination system. To explore the developmental loss of Chd7 function, a gene-trapped reporter mouse was used. We found that the expression of Sox11 is necessary for development of the lateral and posterior semicircular canals, through control of cellular proliferation around the canal fusion plate formation. A decrease of Chd7 led to reduced expression of Sox11 in the otocyst. Collectively, our data suggest a novel Sox11-Chd7 regulatory network promoting normal vestibular organ morphogenesis.
Biomedical Sciences, Interdisciplinary, Natural/Life Sciences
