Ontology highlight
ABSTRACT:
SUBMITTER: Kuang Y
PROVIDER: S-EPMC7213981 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Kuang Yi Y Golan Ohad O Preusse Kristina K Cain Brittany B Christensen Collin J CJ Salomone Joseph J Campbell Ian I Okwubido-Williams FearGod V FV Hass Matthew R MR Yuan Zhenyu Z Eafergan Nathanel N Moberg Kenneth H KH Kovall Rhett A RA Kopan Raphael R Sprinzak David D Gebelein Brian B
eLife 20200416
Notch pathway haploinsufficiency can cause severe developmental syndromes with highly variable penetrance. Currently, we have a limited mechanistic understanding of phenotype variability due to gene dosage. Here, we unexpectedly found that inserting an enhancer containing pioneer transcription factor sites coupled to Notch dimer sites can induce a subset of <i>Notch</i> haploinsufficiency phenotypes in <i>Drosophila</i> with wild type <i>Notch</i> gene dose. Using <i>Drosophila</i> genetics, we ...[more]