Article

Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants

2023-07-26

Abstract excerpt

<h4>ABSTRACT</h4> Nonsense and missense mutations in the transcription factor PAX6 cause a wide range of eye development defects, including aniridia, microphthalmia and coloboma. To understand how changes of PAX6:DNA binding cause these phenotypes, we combined saturation mutagenesis of the paired domain of PAX6 with a yeast one-hybrid (Y1H) assay in which expression of a PAX6-GAL4 fusion gene drives antibiotic re...

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Literature Corpus work: 2644eb89-76b5-569f-8e56-8ae25f8f8087
DOI: 10.1101/2023.07.25.550478

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