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Single-molecule sequencing of an animal mitochondrial genome reveals chloroplast-like architecture and repeat-mediated recombination
Journal article   Open access   Peer reviewed

Single-molecule sequencing of an animal mitochondrial genome reveals chloroplast-like architecture and repeat-mediated recombination

Joel Sharbrough, Laura Bankers, Emily Cook, Peter D Fields, Joseph Jalinsky, Kyle E McElroy, Maurine Neiman, John M Logsdon and Jeffrey L Boore
Molecular biology and evolution, Vol.40(1), msad007
01/10/2023
DOI: 10.1093/molbev/msad007
PMCID: PMC9874032
PMID: 36625177
url
https://doi.org/10.1093/molbev/msad007View
Published (Version of record) Open Access

Abstract

Recent advances in long-read sequencing technology have allowed for single-molecule sequencing of entire mitochondrial genomes, opening the door for direct investigation of mitochondrial genome architecture and recombination. We used PacBio sequencing to re-assemble mitochondrial genomes from two species of New Zealand freshwater snails, Potamopyrgus antipodarum and Potamopyrgus estuarinus. These assemblies revealed a ∼1.7 kb structure within the mitochondrial genomes of both species that was previously undetected by assembly of short reads and likely corresponding to a large non-coding region commonly present in mitochondrial genomes. The overall architecture of these Potamopyrgus mitochondrial genomes is reminiscent of the chloroplast genomes of land plants, harboring a large single-copy region (LSC) and a small single-copy region (SSC) separated by a pair of inverted repeats (IRa and IRb). Individual sequencing reads that spanned across the Potamopyrgus IRa-SSC-IRb structure revealed the occurrence of "flip-flop" recombination. We also detected evidence for two distinct IR haplotypes and recombination between them in wild-caught P. estuarinus, as well as extensive intermolecular recombination between SNPs in the LSC region. The chloroplast-like architecture and repeat-mediated mitochondrial recombination we describe here raise fundamental questions regarding the origins and commonness of inverted repeats in cytoplasmic genomes and their role in mitochondrial genome evolution.
heteroplasmy repeat-mediated recombination Flip-flop recombination PacBio sequencing mitochondrial DNA

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