Recombination is a powerful evolutionary force that merges historically distinct genotypes. But the extent of recombination within many organisms is unknown, and even determining its presence within a set of homologous sequences is a difficult question. Here we develop a new statistic, F w , that can be used to test for recombination. We show through simulation that our test can discriminate effectively between the presence and absence of recombination, even in diverse situations such as exponential growth (star-like topologies) and patterns of substitution rate correlation. A number of other tests, Max x 2 , NSS, a coalescentbased likelihood permutation test (from LDHat), and correlation of linkage disequilibrium (both r 2 and jD9j) with distance, all tend to underestimate the presence of recombination under strong population growth. Moreover, both Max x 2 and NSS falsely infer the presence of recombination under a simple model of mutation rate correlation. Results on empirical data show that our test can be used to detect recombination between closely as well as distantly related samples, regardless of the suspected rate of recombination. The results suggest that F w is one of the best approaches to distinguish recurrent mutation from recombination in a wide variety of circumstances.
The systematic comparison of genomic sequences from different organisms represents a central focus of contemporary genome analysis. Comparative analyses of vertebrate sequences can identify coding and conserved non-coding regions, including regulatory elements, and provide insight into the forces that have rendered modern-day genomes. As a complement to whole-genome sequencing efforts, we are sequencing and comparing targeted genomic regions in multiple, evolutionarily diverse vertebrates. Here we report the generation and analysis of over 12 megabases (Mb) of sequence from 12 species, all derived from the genomic region orthologous to a segment of about 1.8 Mb on human chromosome 7 containing ten genes, including the gene mutated in cystic fibrosis. These sequences show conservation reflecting both functional constraints and the neutral mutational events that shaped this genomic region. In particular, we identify substantial numbers of conserved non-coding segments beyond those previously identified experimentally, most of which are not detectable by pair-wise sequence comparisons alone. Analysis of transposable element insertions highlights the variation in genome dynamics among these species and confirms the placement of rodents as a sister group to the primates.
The parsimony score of a character on a tree equals the number of state changes required to fit that character onto the tree. We show that for unordered, reversible characters this score equals the number of tree rearrangements required to fit the tree onto the character. We discuss implications of this connection for the debate over the use of consensus trees or total evidence and show how it provides a link between incongruence of characters and recombination.
Recombination contributes significantly to diversity within virus populations and ultimately to viral evolution. Here we use a recently developed statistical test to perform exploratory analysis of recombination in fourteen feline immunodeficiency virus (FIVpco) genomes derived from a wild population of cougars. We use both the global and local Phi statistical test as an overall guide to predict where recombination may have occurred. Further analyses, including similarity plots and phylogenetic incongruence tests, confirmed that three FIVpco lineages were derived from recombinant events. Interestingly, the regions of mosaic origin were clustered in the area encoding lentiviral accessory genes and largely spared the viral structural genes. Because some of the mosaic strains are currently geographically disparate, our data indicate that the dispersal of cougars infected with these strains was preceded by recombination events. These results suggest that recombination has played an important role in the evolution of FIVpco for this wild population of cougars.
Determining an optimal phylogenetic tree using maximum parsimony, also referred to as the Steiner tree problem in phylogenetics, is NP hard. Here we provide a new formulation for this problem which leads to an analytical and linear time solution when the dimensionality (sequence length, or number of characters) is at most two. This new formulation of the problem provides a direct link between the maximum parsimony problem and the maximum compatibility problem via the intersection graph. The solution for the "two character case" has numerous practical applications in phylogenetics, some of which are discussed.
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