Exome sequencing identifies novel mutation signatures of UV radiation and trichostatin A in primary human keratinocytes.

ABSTRACT: Canonical ultraviolet (UV) mutation type and spectra are traditionally defined by direct sequencing-based approaches to map mutations in a limited number of representative DNA elements. To obtain an unbiased view of genome wide UV mutation features, we performed whole exome-sequencing (WES) to profile single nucleotide substitutions in UVB-irradiated primary human keratinocytes. Cross comparison of UV mutation profiles under different UVB radiation conditions revealed that T > C transition was highly prevalent in addition to C > T transition. We also identified 5'-ACG-3' as a common sequence motif of C > T transition. Furthermore, our analyses uncovered several recurring UV mutations following acute UVB radiation affecting multiple genes including HRNR, TRIOBP, KCNJ12, and KMT2C, which are

SUBMITTER: Shen Y 

PROVIDER: S-EPMC7080724 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature