Publication in PNAS on dissecting EEC syndrome using single-cell RNA-seq

22 August 2019

PhD candidates Eduardo Soares and Quan Xu in Jo Huiqing Zhou’s group in Molecular Developmental Biology, theme Reconstruction and regenerative medicine, have published a paper in Proceedings of the National Academy of Sciences on the disease mechanism of EEC syndrome using single-cell RNA-seq technology and patient-derived iPSCs.

Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate (EEC) syndrome that shows skin abnormalities is associated with mutations in the transcription factor p63. In this publication, Zhou’s group applied single-cell RNA-seq technology on EEC patient-derived iPSCs that were differentiated to epidermal cells, in collaboration with Professor Fuchou Tang’s lab in Peking University. This work reported an upregulated mesodermal signature in these patient cells during epidermal differentiation, and the abnormal mesodermal activation can be reversed by a 100-year old anti-parasite drug Suramin used to treat African sleeping sickness. This study shows that understanding molecular mechanisms of diseases can open new avenues for developing treatments.

Jo Zhou, with her collaborators.