Genomic regions harboring large numbers of human-specific single nucleotide substitutions are of significant interest since they are potential genomic foci underlying the evolution of human-specific traits as well as human adaptive evolution. Previous studies aimed to identify such regions either used pre-defined genomic locations such as coding sequences and conserved genomic elements or employed sliding window methods. Such approaches may miss clusters of substitutions occurring in regions other than those pre-defined locations, or not be able to distinguish human-specific clusters of substitutions from regions of generally high substitution rates. Here, we conduct a 'maximal segment' analysis to scan the whole human genome to identify clusters of human-specific substitutions that occurred since the divergence of the human and the chimpanzee genomes. This method can identify species-specific clusters of substitutions while not relying on pre-defined regions. We thus identify thousands of clusters of human-specific single nucleotide substitutions. The evolution of such clusters is driven by a combination of several different evolutionary processes including increased regional mutation rate, recombination-associated processes, and positive selection. These newly identified regions of human-specific substitution clusters include large numbers of previously identified human accelerated regions, and exhibit significant enrichments of genes involved in several developmental processes. Our study provides a useful tool to study the evolution of the human genome.

The purpose of the study "Phylogeographic relationships among Asian eggplants and new perspectives on eggplant domestication" by Meyer et al (2012) was to use new and expanded accession sets coupled with molecular data to evaluate possible scenarios of eggplant domestication with as little influence as possible from any previously published nomenclatural scheme, and taking into consideration multiple sources of evidence regarding the history of eggplant in Asia. Samuels (2013) disfavored this system and in his Letter to the Editor attempted to re-evaluate the results according to his system. However, Samuels appears to have misread Meyer et al and also makes several claims without the support of evidence. We stand by the results of Meyer et al, which are in agreement with the recent and much needed new taxonomic treatment for wild relatives of eggplant.

Due to its unique geological history and isolated location, the Hawaiian Archipelago provides an ideal setting for studies on biogeography, phylogeny and population biology. Species richness in these islands has been attributed to unique colonization events. The Hawaiian mints comprising of three endemic genera represent one of the largest radiations in the island. Previous studies have shown the Hawaiian mints to be nested within the dry-fruited Stachys, probably resulting from one or more hybridization events. Stachydeae, the largest tribe in the subfamily Lamioideae (Lamiaceae), is a taxonomically complex and widespread lineage exhibiting remarkable chromosomal diversity. In this paper we attempted at untangling the relationships between the New World and Hawaiian mint taxa, as well as investigate the origin and diversification of the mints in the New World. There seem to have been at least two independent migration events of Stachys to the New World during the Middle to Late Miocene and towards the beginning of the Pliocene, respectively. Results indicate incongruence between the rDNA and cpDNA phylogenies suggesting a reticulate, New World origin for the Hawaiian mints, although dispersal to Hawaii appears to have happened only once during the Pliocene. South American Stachys diversified from their Mesoamerican relatives around Late Pliocene and may also have arisen from similar reticulate events indicated by their intercalating position among the Mesoamerican Stachys species. Further insights into the phylogenetic relationships between the New World mints may be gathered through the study of low copy nuclear loci.

Using a multilocus approach, we investigated the tempo and pattern of diversification in a widely distributed New World songbird, the cardinalid genus Pheucticus. Each of the three geographic groups recovered (North American, Middle American, and South American) was comprised of a pair of currently recognized species, and four, three, and three geographically and genetically distinct phylogeographic lineages respectively. Diversification within Pheucticus appears to have occurred at a relatively constant pace throughout the Pleistocene and evenly across a broad latitudinal distribution. The Isthmus of Panama completion and Pleistocene glacial cycles both appear to have played prominent roles in the diversification of this group.

Horizontal gene transfer (HGT) is an important evolutionary mechanism that has shaped prokaryotic genomes. For Streptococcus thermophilus, there is no direct evidence that the bacteria might acquire a second paralog from a different origin in the same niche. In this study, we found that four isolates of S. thermophilus (B, C, E and F) from the same yoghurt contained two putative homologs of the eno genes (eno-1 and eno-2) and two putative homologs of the guaB genes (guaB-1 and guaB-2). Both eno-1 and guaB-1 shared 100% nucleotide identity among the four isolates, and with isolate A and S. thermophilus ND03. Phylogenetic and nucleotide divergence analyses indicated that guaB-2 of these isolates may have been acquired from species in the genus Streptococcus, while eno-2 of isolates B and C may have been acquired from a donor in the genus Streptococcus. The eno-2 genes of isolates E and F may have been acquired from a donor in the Enterococcus genera. Relative synonymous codon usage analysis confirmed the eno-2 genes of isolates E and F as being acquired from a donor in genus Enterococcus. This study provides evidence that interfamily and interspecies HGT occur in Streptococcus thermophilus strains isolated from the same niche.

With recent advances in genomic sequencing, the importance of taking the effects of the processes that can cause discord between the speciation history and the individual gene histories into account has become evident. For multilocus datasets, it is difficult toachieve complete coverage of all sampled loci across all sample specimens, a problem that also arises when combining incompletely overlapping datasets. Here we examine how missing data affects the accuracy of species tree reconstruction. In our study, 10- and 100- locus sequence datasets were simulated under the coalescent model from shallow and deep speciation histories, and species trees were estimated using the maximum likelihood and Bayesian frameworks (with STEM and ∗BEAST, respectively). The accuracy of the estimated species trees was evaluated using the symmetric difference and the SPR distance. We examine the effects of sampling more than one individual per species, as well as the effects of different patterns of missing data (i.e., different amounts of missing data, which is represented among random taxa as opposed to being concentrated in specific taxa, as is often the case for empirical studies). Our general conclusion is that the species tree estimates are remarkably resilient to the effects of missing data. We find that for datasets with more limited numbers of loci, sampling more than one individual per species has the strongest effect on improving species tree accuracy when there is missing data, especially at higher degrees of missing data. For larger multilocus datasets (e.g., 25-100 loci), the amount of missing data has a negligible effect on species tree reconstruction, even at 50% missing data and a single sampled individual per species.

Empirical and simulated examples are used to demonstrate an artifact caused by undersampling optimal trees in data matrices that consist mostly or entirely of sampled locally (as opposed to globally, for most or all terminals) characters. The artifact is that unsupported clades consisting entirely of terminals scored for the same locally sampled partition may be resolved and assigned high resampling support-despite their being properly unsupported (i.e., not resolved in the strict consensus of all optimal trees). This artifact occurs despite application of random-addition sequences for stepwise terminal addition. The artifact is not necessarily obviated with thorough conventional branch swapping methods (even tree-bisection-reconnection) when just a single tree is held, as is sometimes implemented in parsimony bootstrap pseudoreplicates, and in every GARLI, PhyML, and RAxML pseudoreplicate and search for the most likely tree for the matrix as a whole. Hence GARLI, RAxML, and PhyML-based likelihood results require extra scrutiny, particularly when they provide high resolution and support for clades that are entirely unsupported by methods that perform more thorough searches, as in most parsimony analyses.

The geological history of the Ponto-Caspian region, with alternating cycles of isolation and reconnection among the three main basins (Black and Azov Seas, and the more distant Caspian Sea) as well as between them and the Mediterranean Sea, profoundly affected the diversification of its aquatic fauna, leading to a high degree of endemism. Two alternative hypotheses on the origin of this amazing biodiversity have been proposed, corresponding to phases of allopatric separation of aquatic fauna among sea basins: a Late Miocene origin (10-6MYA) vs. a more recent Pleistocene ancestry (<2MYA). Both hypotheses support a vicariant origin of (1) Black+Azov Sea lineages on the one hand, and (2) Caspian Sea lineages on the other. Here, we present a study on the Ponto-Caspian endemic amphipod Pontogammarus maeoticus. We assessed patterns of divergence based on (a) two mitochondrial and one nuclear gene, and (b) a morphometric analysis of 23 morphological traits in 16 populations from South and West Caspian Sea, South Azov Sea and North-West Black Sea. Genetic data indicate a long and independent evolutionary history, dating back from the late Miocene to early Pleistocene (6.6-1.6MYA), for an unexpected, major split between (i) a Black Sea clade and (ii) a well-supported clade grouping individuals from the Caspian and Azov Seas. Absence of shared haplotypes argues against either recent or human-mediated exchanges between Caspian and Azov Seas. A mismatch distribution analysis supports more stable population demography in the Caspian than in the Black Sea populations. Morphological divergence largely followed patterns of genetic divergence: our analyses grouped samples according to the basin of origin and corroborated the close phylogenetic affinity between Caspian and Azov Sea lineages. Altogether, our results highlight the necessity of careful (group-specific) evaluation of evolutionary trajectories in marine taxa that should certainly not be inferred from the current geographical proximity of sea basins alone.

The mixed vertebrate-insect pollination system is rare in Holarctic plants. Phylogenetic relationships of 116 Scrophularia taxa were investigated based on two plastid (ndhF and trnL-trnF) and one nuclear (ITS) DNA regions. A wider time-calibrated analysis of ndhF sequences of the Lamiales revealed that Scrophularia diverged as early as in the Miocene (<22Ma). Results of maximum-likelihood optimizations supported wasp pollination as the ancestral pollination system from which other systems derived (hoverfly, mixed vertebrate-insect and bird systems). Four origins for a mixed vertebrate-insect (MVI) pollination system were inferred, in which two western Mediterranean species (S. sambucifolia and S. grandiflora) and two island species (the Tirrenian S. trifoliata and the Canarian S. calliantha) were involved. S. calliantha is the only species in which a more complex MVI system, including pollination by the lizard Gallotia stehlini, has evolved. In addition, bird (hummingbird) floral traits found in the New Mexican S. macrantha appear to have been independently acquired. In contrast, we failed to find evidence for an ancient role of hummingbirds in the evolution of European Scrophularia. Indeed, paleontological data revealed that extinction of European hummingbirds (30-32Ma) occurred earlier than the divergence of European MVI lineages of Scrophularia. In conclusion, our results showed that a role of birds in pollination of Scrophularia may not have been effective in the Miocene-Pliocene, but bird pollination that shows its origin in the Pliocene-Pleistocene is still operating independently in different islands and continents.

The Nesospiza finches of the Tristan da Cunha archipelago and Rowettia goughensis from Gough Island, 380km distant, are both derived from tanager-finches (Thraupidae) that colonized the islands by crossing more than 3000km of ocean from South America. Sequences from two mitochondrial and four nuclear genes indicate that the Patagonian bridled finches Melanodera are the closest relatives of the South Atlantic finches. Melanodera typically was sister to Rowettia, although some genes linked it more closely to Nesospiza. There was no evidence that Rowettia and Nesospiza are sister taxa, suggesting that the South Atlantic finches evolved from separate colonization events, as apparently was the case for moorhens Gallinula spp. at the two island groups. Genetic divergence between the two island finch genera thus provides an estimate of the maximum period of time they have been present at the islands, some 3-5 million years. A brief review of colonization histories suggests that island hopping by passerine birds is infrequent among islands more than 100-200km apart.