Substitutions of short heterologous DNA segments of intragenomic or extragenomic origins produce clustered genomic polymorphisms

Klaus Harms, Asbjørn Lunnan, Nils Hülter, Tobias Mourier, Lasse Vinner, Cheryl P. Andam, Pekka Marttinen, Eva Marie Helena Fridholm, Anders Johannes Hansen, William P. Hanage, Kaare Magne Nielsen, Eske Willerslev, Pål Jarle Johnsen

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    8 Citations (Scopus)

    Abstract

    In a screen for unexplained mutation events we identified a previously unrecognized mechanism generating clustered DNA polymorphisms such as microindels and cumulative SNPs. The mechanism, short-patch double illegitimate recombination (SPDIR), facilitates short single-stranded DNA molecules to invade and replace genomic DNA through two joint illegitimate recombination events. SPDIR is controlled by key components of the cellular genome maintenance machinery in the gram-negative bacterium Acinetobacter baylyi. The source DNA is primarily intragenomic but can also be acquired through horizontal gene transfer. The DNA replacements are nonreciprocal and locus independent. Bioinformatic approaches reveal occurrence of SPDIR events in the gram-positive human pathogen Streptococcus pneumoniae and in the human genome.

    Original languageEnglish
    JournalNational Academy of Sciences. Proceedings
    Volume113
    Issue number52
    Pages (from-to)15066-15071
    Number of pages6
    ISSN0027-8424
    DOIs
    Publication statusPublished - 2016

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