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

ABSTRACT: Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) in many cancers and various congenital disorders in humans. Trinucleotide repeat sequences, such as (GAA)_n repeats in Friedreich's ataxia, (CTG)_n repeats in myotonic dystrophy, and (CGG)_n repeats in fragile X syndrome, are also subject to double-strand breaks within the repetitive tract followed by DNA repair. Mapping the outcomes of CGRs is important for understanding their causes and potential phenotypic effects. However, high-resolution mapping of CGRs has traditionally been a laborious and highly skilled process. Recent advances in long-read DNA sequencing technologies, specifically Nanopore sequencing, have made possible the rapid identification of CGRs with

SUBMITTER: McGinty RJ 

PROVIDER: S-EPMC5741057 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature