Stefani Gjorcheska

Jul 24, 2024 | biorxiv.org | Lindsey Barske |Sandhya Paudel |Sarah M. McLeod |Stefani Gjorcheska

AbstractHeterozygous variants in the gene encoding the SOX10 transcription factor cause congenital syndromes affecting pigmentation, digestion, hearing, and neural function. Most of these symptoms are attributable to failed differentiation and loss of neural crest cells. Extensive research on mouse and zebrafish models has confirmed that Sox10 is essential for most non-skeletal crest derivatives, but seemingly dispensable for skeletal development.