Makena Crimaldi
Pronouns:
Research Mentor(s): Rajesh Rao
Research Mentor School/College/Department: / Medicine
Program: UROP
Session: Session 5 (2:40pm – 3:30pm)
Authors: Makena Crimaldi , Rajesh Rao, Qiang Li
Abstract
Hesx1 (Homeobox expressed in ES cells 1) gene is essential for mammalian retinal development. In particular, deletion of Hesx1 leads to improper eye development including microphthalmia/anophthalmia in mice, and homozygous HESX1 missense mutation has been found in patients with septic-optic dysplasia. The function and regulation of the Hesx1 gene in early retinal progenitor cells still need to be better understood. Using a 3D mouse embryonic stem cell (mESC) retinal organoid differentiation model, we have found that a potential enhancer of the Hesx1 gene was associated with open chromatin accessibility and mRNA transcription. To further explore the role of this enhancer region, gene editing using CRISPR/Cas9 method was performed in mouse ESCs. The student researcher initiated the gene editing, picking up single cell-derived mESC single colonies and high throughput genotyping. 2 independent clones with large fragment deletion were selected for Sanger sequencing and phenotype characterization.
