Functional Mutations Form at CTCF-Cohesin Binding Sites in Melanoma Due to Uneven Nucleotide Excision Repair across the Motif

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• 作者：Rebecca C. Poulos¹ ; Julie A.I. Thoms¹ ; Yi Fang Guan¹ ; Ashwin Unnikrishnan¹ ; John E. Pimanda¹ ; ² ; Jason W.H. Wong¹ ; ³ ; ⁴ ; ^{jason.wong@unsw.edu.au}
• 关键词：melanoma ; CTCF ; somatic mutation ; topologically associating domain ; nucleotide excision repair ; cohesin ; allele-specific ChIP-seq ; COLO-829
• 刊名：Cell Reports
• 出版年：2016
• 出版时间：13 December 2016
• 年：2016
• 卷：17
• 期：11
• 页码：2865-2872
• 全文大小：2394 K
• 卷排序：17

文摘

Mutations localize to specific nucleotides within CTCF binding sites in skin cancer This mutation pattern forms due to differential NER across pyrimidine pairs Mutations on highly conserved bases alter CTCF binding CTCF binding site mutations in melanoma are generally under neutral selection