Single cell RNA sequencing of paw skin from healthy and Col7a1 knockout (RDEB) mice

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder caused by loss of function of the Col7a1 gene that encodes collagen VII, a critical structural protein that anchors the epidermis to the dermis. Manifestations of this disease include chronic wounding, blistering, immune dysfunction, and eventually squamous cell carcinoma. Symptoms are likely due to the disruption and dysregulation of the dermal microenvironment. Mice with RDEB symptoms, due to Col7a1 knockout, have been developed to study the disease's development and pathological manifestations in an in vivo model. Single cell RNA sequencing was performed on a single cell suspension of the paw skin of 2 week old RDEB mice, along with their wild-type littermates, to create a transcriptomic view of their dermal microenvironment. We analyzed the sequencing data at different resolutions. One focusing on the overall tissue level as well as closer analysis of specific cell types (fibroblasts, keratinocytes, immune cells, and vascular cells). Overall design: Single cell supsensions were extracted from the paw skin of four, 2 week old mice. Two mice had Col7a1 knocked-out and displayed symptoms characteristic of RDEB, while the other two were normal.