Compilation and Structural Analyses of Disease-linked Mutations in the Xeroderma Pigmentosum C (XPC) DNA Repair Protein

The xeroderma pigmentosum C (XPC) protein complex recognizes various types of environmentally induced DNA damage from the genome to initiate the nucleotide excision repair (NER) process in eukaryotes. In this study, (1) I compiled a list of missense mutations/variations in the human XPC gene that are linked to diseases (e.g., cancer) or impair its functions in vitro, from three public databases and 13 research papers. (2) I have made a homology-directed 3D structural model of human XPC protein based on existing yeast Rad4 structures; and (3) I mapped the compiled mutations onto the homology model. This work provides an important starting point to understand the impact of the various mutations in the function of the XPC protein.