The SWI/SNF BAF-A complex is essential for neural crest development

Developmental Biology
Ronald L Chandler, Terry Magnuson

Abstract

Growing evidence indicates that chromatin remodeler mutations underlie the pathogenesis of human neurocristopathies or disorders that affect neural crest cells (NCCs). However, causal relationships among chromatin remodeler subunit mutations and NCC defects remain poorly understood. Here we show that homozygous loss of ARID1A-containing, SWI/SNF chromatin remodeling complexes (BAF-A) in NCCs results in embryonic lethality in mice, with mutant embryos succumbing to heart defects. Strikingly, monoallelic loss of ARID1A in NCCs led to craniofacial defects in adult mice, including shortened snouts and low set ears, and these defects were more pronounced following homozygous loss of ARID1A, with the ventral cranial bones being greatly reduced in size. Early NCC specification and expression of the BRG1 NCC target gene, PLEXINA2, occurred normally in the absence of ARID1A. Nonetheless, mutant embryos displayed incomplete conotruncal septation of the cardiac outflow tract and defects in the posterior pharyngeal arteries, culminating in persistent truncus arteriosus and agenesis of the ductus arteriosus. Consistent with this, migrating cardiac NCCs underwent apoptosis within the circumpharyngeal ridge. Our data support the notion that m...Continue Reading

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Citations

Oct 27, 2017·Proceedings of the National Academy of Sciences of the United States of America·Karl B ShpargelTerry Magnuson
Feb 15, 2019·Frontiers in Molecular Neuroscience·John Inge JohnsenMalin Wickström
Apr 16, 2019·Expert Review of Anticancer Therapy·Krystal A OrlandoBernard E Weissman
Dec 3, 2020·Cellular and Molecular Life Sciences : CMLS·Britt MossinkNael Nadif Kasri
Mar 23, 2021·PLoS Genetics·Kathleen Wung Bi-LinManvendra K Singh
Mar 23, 2021·Frontiers in Cell and Developmental Biology·Luca Pagliaroli, Marco Trizzino
May 11, 2021·Frontiers in Cell and Developmental Biology·Shun YanKai Jiao
Aug 27, 2021·Journal of Cardiovascular Development and Disease·Shannon ErhardtJun Wang

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