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Delimiting Coalescence Genes (C-Genes) in Phylogenomic Data Sets

Department of Evolution, Ecology, and Organismal Biology, University of California, Riverside, CA 92521, USA
Division of Vertebrate Zoology and Sackler Institute for Comparative Genomics, American Museum of Natural History, New York, NY 10024, USA
Authors to whom correspondence should be addressed.
Genes 2018, 9(3), 123;
Received: 1 December 2017 / Revised: 2 February 2018 / Accepted: 19 February 2018 / Published: 26 February 2018
(This article belongs to the Special Issue Estimating Phylogenies from Large Genomic Datasets)
Summary coalescence methods have emerged as a popular alternative for inferring species trees with large genomic datasets, because these methods explicitly account for incomplete lineage sorting. However, statistical consistency of summary coalescence methods is not guaranteed unless several model assumptions are true, including the critical assumption that recombination occurs freely among but not within coalescence genes (c-genes), which are the fundamental units of analysis for these methods. Each c-gene has a single branching history, and large sets of these independent gene histories should be the input for genome-scale coalescence estimates of phylogeny. By contrast, numerous studies have reported the results of coalescence analyses in which complete protein-coding sequences are treated as c-genes even though exons for these loci can span more than a megabase of DNA. Empirical estimates of recombination breakpoints suggest that c-genes may be much shorter, especially when large clades with many species are the focus of analysis. Although this idea has been challenged recently in the literature, the inverse relationship between c-gene size and increased taxon sampling in a dataset—the ‘recombination ratchet’—is a fundamental property of c-genes. For taxonomic groups characterized by genes with long intron sequences, complete protein-coding sequences are likely not valid c-genes and are inappropriate units of analysis for summary coalescence methods unless they occur in recombination deserts that are devoid of incomplete lineage sorting (ILS). Finally, it has been argued that coalescence methods are robust when the no-recombination within loci assumption is violated, but recombination must matter at some scale because ILS, a by-product of recombination, is the raison d’etre for coalescence methods. That is, extensive recombination is required to yield the large number of independently segregating c-genes used to infer a species tree. If coalescent methods are powerful enough to infer the correct species tree for difficult phylogenetic problems in the anomaly zone, where concatenation is expected to fail because of ILS, then there should be a decreasing probability of inferring the correct species tree using longer loci with many intralocus recombination breakpoints (i.e., increased levels of concatenation). View Full-Text
Keywords: coalescence genes; phylogenomics; protein-coding sequences; recombination breakpoints; recombination ratchet coalescence genes; phylogenomics; protein-coding sequences; recombination breakpoints; recombination ratchet
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Springer, M.S.; Gatesy, J. Delimiting Coalescence Genes (C-Genes) in Phylogenomic Data Sets. Genes 2018, 9, 123.

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