Characterizing Pathogenic Enhancer Activity at Single-cell Resolution

The ZRS enhancer, a regulatory sequence found in numerous organisms, plays an important role early embryonic limb development. controls the expression of Sonic Hedgehog gene (Shh), and therefore development organism as Shh has been shown to control width bud by stimulating mesenchyme cell proliferation due its ability regulate anterior-posterior length apical ectodermal ridge. Several transcription factors, acting repressors or activators gene, coordinate this process tandem with enhancer. While significance normal activity is evident, study looks deeper into effects pathogenic changes enhancer associated disorders such preaxial polydactyly (PPD) focusing on several aspects regulation relation expression. This was accomplished characterizing mCherry, introduced luminescence regulated ZRS, through single-cell RNA sequenced cells from developing mouse embryo. Additionally, characterized specific factors potential determining TF enrichment depletion highly expressive mCherry cells. Classifying TFs vital identifying elements that formation malformation aid future therapeutic interventions.