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A Human-Evolved Gli2 Enhancer is Required for Normal Male Aggression

  • Author(s): Norman, Andrew Robert
  • Advisor(s): Reiter, Jeremy F
  • et al.

Human accelerated regions (HARS), which are genome sequences that have evolved at an accelerated rate in the human lineage, have previously been shown to include developmental enhancers. I have used a massively parallel enhancer reporter assay (MPRA) to test a library of human and chimp HAR orthologs in a cell model of mammalian testes, in order to find HARS which have evolved in human and may underly unique human reproductive traits. Through luciferase assay, 4C-seq, transcriptional analysis and Crispr/Cas9 deletion I have validated a candidate and shown that it is an enhancer of the hedgehog signaling pathway effector Gli2 in the testis cell model. Furthermore, I have shown that the enhancer is required for normal Gli2 expression in Leydig cells, as well as normal testis vascular development and normal inter-male social behavior.

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