Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair

• DOI: 10.1101/gr.228148.117
• Publication Date: 2017-11-07T17:30:22Z
• Authors: Ryan J. McGinty; Rachel G. Rubinstein; Alexander J. Neil; Margaret Dominska; Denis Kiktev; Thomas D. Petes; Sergei M. Mirkin
• Keywords: Minion

Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) many cancers and various congenital disorders humans. Trinucleotide repeat sequences, such as (GAA)n repeats Friedreich's ataxia, (CTG)n myotonic dystrophy, (CGG)n fragile X syndrome, are also subject to breaks within the repetitive tract followed by repair. Mapping outcomes of CGRs is important for understanding their causes potential phenotypic effects. However, high-resolution mapping has traditionally been a laborious highly skilled process. Recent advances long-read sequencing technologies, specifically Nanopore sequencing, have made possible rapid identification with single base pair resolution. Here, we used whole-genome characterize several that originated from naturally occurring DSBs at microsatellites Saccharomyces cerevisiae These data gave us insights into mechanisms DSB leading CGRs.