Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders.

ABSTRACT: The chromodomain family member chromodomain 1 (CHD1) has been shown to have numerous critical molecular functions including transcriptional regulation, splicing, and DNA repair. Complete loss of function of this gene is not compatible with life. On the other hand, missense and copy number variants of CHD1 can result in intellectual disabilities and craniofacial malformations in human patients including cleft palate and Pilarowski-Bjornsson Syndrome. We have used the aquatic developmental model organism Xenopus laevis, to determine a specific role for Chd1 in such cranioafcial disorders. Protein and gene knockdown techniques in Xenopus, including antisense oligos and mosaic Crispr/Cas9-mediated mutagenesis, recapitulated the craniofacial defects observed in humans. Further analysis indicate

SUBMITTER: Wyatt BH 

PROVIDER: S-EPMC10701884 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature