Our previous discoveries demonstrated a phenomenon where mutant adult male stem cells switch to female stem cells and cause tumor phenotypes. It is the first evidence that adult stem cells are capable of changing sexual identity. As many disease-associated risk loci reside in non-coding genomic regions, we found that the stem cell conversion phenotype is also caused by non-coding mutations affecting gene expression of a transcription factor. This is of enormous interest since similar defects may trigger testicular cancer or sexual development disorders in humans. We will explore how non-coding mutations contribute to dramatic stem cell sex conversion phenotypes by regulating gene expression in specific cells at different developmental stages.
