ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification.
Publication/Presentation Date
10-3-2024
Abstract
The BAF chromatin remodeler regulates lineage commitment including cranial neural crest cell (CNCC) specification. Variants in BAF subunits cause Coffin-Siris syndrome (CSS), a congenital disorder characterized by coarse craniofacial features and intellectual disability. Approximately 50% of individuals with CSS harbor variants in one of the mutually exclusive BAF subunits, ARID1A/ARID1B. While Arid1a deletion in mouse neural crest causes severe craniofacial phenotypes, little is known about the role of ARID1A in CNCC specification. Using CSS-patient-derived ARID1A
Volume
111
Issue
10
First Page
2232
Last Page
2252
ISSN
1537-6605
Published In/Presented At
Barnada, S. M., Giner de Gracia, A., Morenilla-Palao, C., López-Cascales, M. T., Scopa, C., Waltrich, F. J., Jr, Mikkers, H. M. M., Cicardi, M. E., Karlin, J., Trotti, D., Peterson, K. A., Brugmann, S. A., Santen, G. W. E., McMahon, S. B., Herrera, E., & Trizzino, M. (2024). ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification. American journal of human genetics, 111(10), 2232–2252. https://doi.org/10.1016/j.ajhg.2024.07.022
Disciplines
Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods
PubMedID
39226899
Department(s)
Administration and Leadership
Document Type
Article