Data associated with the article entitled: "A conserved NR5A1-responsive enhancer regulates SRY in testis-determination"

Codes, tabular data and raw data used in the publication: A conserved NR5A1-responsive enhancer regulates SRY in testis-determination (Nature Communications). These data originate from a study investigating the regulation of the Y-linked SRY gene, which plays a crucial role in initiating testis-determination in mammals. We identified a specific enhancer, bound by the steroidogenic factor-1 (SF-1)/NR5A1, necessary for appropriate SRY expression in human testis-determination. Deleting this enhancer using genome editing in an in vitro cellular model led to a significant reduction in SRY expression, highlighting the regulatory role of human NR5A1 in the switch between testis and ovary development. Our study suggests that disruptions in enhancers can mimic variants in the coding regions of SRY associated with human testis dysgenesis, providing valuable insights into enhancer activity in the context of key developmental processes.