Predicting Modifiers of Genotype-Phenotype Correlations in Craniofacial Development.

ABSTRACT: Most human birth defects are phenotypically variable even when they share a common genetic basis. Our understanding of the mechanisms of this variation is limited, but they are thought to be due to complex gene-environment interactions. Loss of the transcription factor Gata3 associates with the highly variable human birth defects HDR syndrome and microsomia, and can lead to disruption of the neural crest-derived facial skeleton. We have demonstrated that zebrafish gata3 mutants model the variability seen in humans, with genetic background and candidate pathways modifying the resulting phenotype. In this study, we sought to use an unbiased bioinformatic approach to identify environmental modifiers of gata3 mutant craniofacial phenotypes. The LINCs L1000 dataset identifies chem

SUBMITTER: Kar RD 

PROVIDER: S-EPMC9864425 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature