Abstract
BackgroundMicroinversions are cytologically undetectable inversions of DNA sequences that accumulate slowly in genomes. Like many other rare genomic changes (RGCs), microinversions are thought to be virtually homoplasy-free evolutionary characters, suggesting that they may be very useful for difficult phylogenetic problems such as the avian tree of life. However, few detailed surveys of these genomic rearrangements have been conducted, making it difficult to assess this hypothesis or understand the impact of microinversions upon genome evolution.ResultsWe surveyed non-coding sequence data from a recent avian phylogenetic study and found substantially more microinversions than expected based upon prior information about vertebrate inversion rates, although this is likely due to underestimation of these rates in previous studies. Most microinversions were lineage-specific or united well-accepted groups. However, some homoplastic microinversions were evident among the informative characters. Hemiplasy, which reflects differences between gene trees and the species tree, did not explain the observed homoplasy. Two specific loci were microinversion hotspots, with high numbers of inversions that included both the homoplastic as well as some overlapping microinversions. Neither stem-loop structures nor detectable sequence motifs were associated with microinversions in the hotspots.ConclusionsMicroinversions can provide valuable phylogenetic information, although power analysis indicates that large amounts of sequence data will be necessary to identify enough inversions (and similar RGCs) to resolve short branches in the tree of life. Moreover, microinversions are not perfect characters and should be interpreted with caution, just as with any other character type. Independent of their use for phylogenetic analyses, microinversions are important because they have the potential to complicate alignment of non-coding sequences. Despite their low rate of accumulation, they have clearly contributed to genome evolution, suggesting that active identification of microinversions will prove useful in future phylogenomic studies.
Highlights
Microinversions are cytologically undetectable inversions of DNA sequences that accumulate slowly in genomes
Establishing that specific types of rare genomic changes (RGCs), like microinversions, are perfect characters is important for two reasons
We examined variation among loci in the microinversion rate, identified phylogenetically informative and homoplastic microinversions, and found evidence that the number of microinversions has been underestimated in previous large-scale studies
Summary
Microinversions are cytologically undetectable inversions of DNA sequences that accumulate slowly in genomes. Like many other rare genomic changes (RGCs), microinversions are thought to be virtually homoplasyfree evolutionary characters, suggesting that they may be very useful for difficult phylogenetic problems such as the avian tree of life. The most slowly accumulating changes, collectively designated rare genomic. Despite this heterogeneity, RGCs are thought to exhibit less homoplasy (evolutionary convergence and reversals) than nucleotide substitutions [9]. Establishing that specific types of RGCs, like microinversions, are perfect characters is important for two reasons. It would provide information about the mutational and evolutionary processes that underlie their accumulation, illuminating processes that contribute to genome evolution. Perfect RGCs could provide a practical means to assemble the tree of life because phylogenetic reconstruction is straightforward when homoplasy is absent [6]
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