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Noncoding DNA is central to our understanding of human gene regulation and complex diseases 1 , 2 , and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in the human genome 3 – 9 . Identifying the genomic elements that have become constrained specifically in primates has been hampered by the faster evolution of noncoding DNA compared to protein-coding DNA 10 , the relatively short timescales separating primate species 11 , and the previously limited availability of whole-genome sequences 12 . Here we construct a whole-genome alignment of 239 species, representing nearly half of all extant species in the primate order. Using this resource, we identified human regulatory elements that are under selective constraint across primates and other mammals at a 5% false discovery rate. We detected 111,318 DNase I hypersensitivity sites and 267,410 transcription factor binding sites that are constrained specifically in primates but not across other placental mammals and validate their cis -regulatory effects on gene expression. These regulatory elements are enriched for human genetic variants that affect gene expression and complex traits and diseases. Our results highlight the important role of recent evolution in regulatory sequence elements differentiating primates, including humans, from other placental mammals. Whole-genome alignment of 239 primate species reveals noncoding regulatory elements that are under selective constraint in primates but not in other placental mammals, that are enriched for variants that affect human gene expression and complex traits in diseases.

In the age of genome-scale DNA sequencing, choice of molecular marker arguably remains an important decision in planning a phylogenetic study. Using published genomes from 23 primate species, we make a standardized comparison of four of the most frequently used protocols in phylogenomics, viz., targeted sequence-enrichment using ultraconserved element and exon-capture probes, and restriction-site-associated DNA sequencing (RADseq and ddRADseq). Here, we present a procedure to perform in silico extractions from genomes and create directly comparable data sets for each class of marker. We then compare these data sets in terms of both phylogenetic resolution and ability to consistently and precisely estimate clade ages using fossil-calibrated molecular-clock models. Furthermore, we were also able to directly compare these results to previously published data sets from Sanger-sequenced nuclear exons and mitochondrial genomes under the same analytical conditions. Our results show—although with the exception of the mitochondrial genome data set and the smallest ddRADseq data set—that for uncontroversial nodes all data classes performed equally well, that is they recovered the same well supported topology. However, for one difficult-to-resolve node comprising a rapid diversification, we report well supported but conflicting topologies among the marker classes consistent with the mismodeling of gene tree heterogeneity as demonstrated by species tree analyses of single nucleotide polymorphisms. Likewise, clade age estimates showed consistent discrepancies between data sets under strict and relaxed clock models; for recent nodes, clade ages estimated by nuclear exon data sets were younger than those of the UCE, RADseq and mitochondrial data, but vice versa for the deepest nodes in the primate phylogeny. This observation is explained by temporal differences in phylogenetic informativeness (PI), with the data sets with strong PI peaks toward the present underestimating the deepest node ages. Finally, we conclude by emphasizing that while huge numbers of loci are probably not required for uncontroversial phylogenetic questions—for which practical considerations such as ease of data generation, sharing, and aggregating, therefore become increasingly important—accurately modeling heterogeneous data remains as relevant as ever for the more recalcitrant problems.

The only exclusively freshwater lineage of Sirenia, the Amazonian manatee (Trichechus inunguis ) is listed by the IUCN as vulnerable, with populations projected to decline further during the coming decades. Given that illegal hunting, pollution, habitat disturbance and other impacts are ongoing, it is imperative to assess the distribution and abundance of this unique, elusive aquatic mammal. In this study, we used environmental DNA (eDNA) methods to test for T. inunguis presence at three locations along the longitudinal gradient of the Amazon River and its tributaries (Tefé, Manaus, Belém). At each location, water samples were collected at sites spanning a disturbance gradient from urban to protected reserves. We developed a field methodology to preserve DNA for up to 13 days or more without requiring freezing or cooling of samples. This method performed similarly to traditional cold-storage methods used for eDNA research. In the lab, DNA was extracted from the samples followed by PCR amplification, and Illumina sequencing. Detection of Amazonian manatee DNA was more than three times greater in the western Amazon (Tefé and Mamirauá Reserve) where human activity is low. Manatee DNA was detected at six sites in the central Amazon (Manaus) and in only two sites in the eastern Amazon near the coast (Belém) where human populations and impacts are greater. eDNA methodology was effective for detecting manatees and is expected to be useful for estimating their broader distribution as well as surveying other aquatic species in tropical rivers.

Amazonia has the richest primate fauna in the world. Nonetheless, the diversity and distribution of Amazonian primates remain little known and the scarcity of baseline data challenges their conservation. These challenges are especially acute in the Amazonian arc of deforestation, the 2500 km long southern edge of the Amazonian biome that is rapidly being deforested and converted to agricultural and pastoral landscapes. Amazonian marmosets of the genus Mico are little known endemics of this region and therefore a priority for research and conservation efforts. However, even nascent conservation efforts are hampered by taxonomic uncertainties in this group, such as the existence of a potentially new species from the Juruena–Teles Pires interfluve hidden within the M. emiliae epithet. Here we test if these marmosets belong to a distinct species using new morphological, phylogenomic, and geographic distribution data analysed within an integrative taxonomic framework. We discovered a new, pseudo-cryptic Mico species hidden within the epithet M. emiliae , here described and named after Horacio Schneider, the pioneer of molecular phylogenetics of Neotropical primates. We also clarify the distribution, evolutionary and morphological relationships of four other Mico species, bridging Linnean, Wallacean, and Darwinian shortfalls in the conservation of primates in the Amazonian arc of deforestation.

True river dolphins are some of the rarest and most endangered of all vertebrates. They comprise relict evolutionary lineages of high taxonomic distinctness and conservation value, but are afforded little protection. We report the discovery of a new species of a river dolphin from the Araguaia River basin of Brazil, the first such discovery in nearly 100 years. The species is diagnosable by a series of molecular and morphological characters and diverged from its Amazonian sister taxon 2.08 million years ago. The estimated time of divergence corresponds to the separation of the Araguaia-Tocantins basin from the Amazon basin. This discovery highlights the immensity of the deficit in our knowledge of Neotropical biodiversity, as well as vulnerability of biodiversity to anthropogenic actions in an increasingly threatened landscape. We anticipate that this study will provide an impetus for the taxonomic and conservation reanalysis of other taxa shared between the Araguaia and Amazon aquatic ecosystems, as well as stimulate historical biogeographical analyses of the two basins.

Arapaima, pirarucu or paiche (Arapaima gigas) is one of the largest freshwater fish in the world, and has a long history of commercial exploitation in the Amazon region. To estimate levels of genetic variability and historical and recent connectivity in Arapaima, we examined variation in eleven microsatellite DNA markers in individuals from 22 localities in Brazil, Colombia, and Peru. The results of analysis of molecular variance, Bayesian clustering and discriminant analysis of principal components showed that Arapaima in our samples represents two major populations, one in the Amazonas and one in the Araguaia-Tocantins River basins. The Amazonas population is further structured by isolation-by-distance with the hydrologically largely unconnected Amapá locality representing the eastern-most extreme of this continuum; gene flow predominates at distances of less than 1500 km with localities separated by over 2000 km dominated by genetic drift and effectively forming different populations. We saw no evidence of multiple species of Arapaima in the Amazonas basin, and analysis of pairwise genetic divergence (FST) with Mantel tests and correlograms indicated that this largest population exhibits a large-scale pattern of isolation-by-distance, with which results from MIGRATE-N agreed. The degree and significance of genetic divergence indicates that most sampled localities represent demographically independent sub-populations, although we did identify several recent migration events between both proximal and more distant localities. The levels of genetic diversity were heterogeneous across sites, including low genetic diversity, effective population sizes, and evidence of genetic bottlenecks in several places. On average the levels of gene diversity and rarefied allelic richness were higher for localities along the Amazonas mainstem than in the tributaries, despite these being the areas of highest fishing pressure, while the lowest values were found in tributary headwaters, where landscape modification is a significant threat. We recommend that managers consider the regional and local threats to these populations and tailor strategies accordingly, strategies which should ensure the ability of young A. gigas to disperse through floodplain corridors to maintain genetic diversity among otherwise sedentary adult sub-populations.

In the present study, sequences of the mtDNA control region (834 bp) were analyzed from 337 specimens of Prochilodus nigricans from sites along the main channel of the Amazonas River and three major tributaries, Madeira, Purus, and Juruá. The results of the analysis of molecular variance revealed that a large part of the genetic variation occurred within the populations analyzed (~85 %). Analysis with SAMOVA and Barriers suggested that the upper Madeira River and Purus Rivers had diverged genetically from the other samples, indicating restricted gene flow among these areas, while sites within the remaining range exhibited relatively little population structure. The high degree of structuring observed in the Madeira River basin population may be attributed to the presence of rapids along its upper course, while the genetic divergence found in the upper Purus River suggests historical connection between the upper Purus and upper Madeira Rivers followed by slow genetic drift due to large effective population sizes. However, given the life history and hypothesized evolutionary strategy of this species, we urge caution in interpreting that this targeted species is not at risk of overexploitation due to contemporary abundance. In order to preserve genetic diversity, we recommend enforcement of management regimes for regional stocks.

The Harpy Eagle ( Harpia harpyja ) is an iconic species that inhabits forested landscapes in Neotropical regions, with decreasing population trends mainly due to habitat loss, and currently classified as vulnerable. Here, we report on a chromosome-scale genome assembly for a female individual combining long reads, optical mapping, and chromatin conformation capture reads. The final assembly spans 1.35 Gb, with N50 scaffold equal to 58.1 Mb and BUSCO completeness of 99.7%. We built the first extensive transposable element (TE) library for the Accipitridae to date and identified 7,228 intact TEs. We found a burst of an unknown TE ~ 13–22 million years ago (MYA), coincident with the split of the Harpy Eagle from other Harpiinae eagles. We also report a burst of solo-LTRs and CR1 retrotransposons ~ 31–33 MYA, overlapping with the split of the ancestor to all Harpiinae from other Accipitridae subfamilies. Comparative genomics with other Accipitridae, the closely related Cathartidae and Galloanserae revealed major chromosome-level rearrangements at the basal Accipitriformes genome, in contrast to a conserved ancient genome architecture for the latter two groups. A historical demography reconstruction showed a rapid decline in effective population size over the last 20,000 years. This reference genome serves as a crucial resource for future conservation efforts towards the Harpy Eagle.

Habitat loss and fragmentation intensify the effects of genetic drift and endogamy, reducing genetic variability of populations with serious consequences for wildlife conservation. The Harpy Eagle (Harpia harpyja) is a forest dwelling species that is considered near threatened and suffers from habitat loss in the forests of the Neotropical region. In this study, 72 historical and current samples were assessed using eight autosomal microsatellite markers to investigate the distribution of genetic diversity of the Harpy Eagle of the Amazonian and Atlantic forests in Brazil. The results showed that the genetic diversity of Harpy Eagle decreased in the regions where deforestation is intense in the southern Amazon and Atlantic Forest.

Brycon amazonicus is widely distributed in the Amazon basin. The species has traditionally been the focus of subsistence and commercial fisheries, and recently has become an important aquaculture species. Aquaculture relies on the removal of individuals from nature which form the basis of breeding stocks. The breeding stocks are often derived from local populations, but equally often are a mix of fishes from different regions or from other aquaculture stations. In this study, we found that B. amazonicus forms just one population in the central Amazon basin, and most animals in the aquaculture stations originated from this group. However, fishes from the Balbina aquaculture station represent another biological group, while the fishes in the experimental station of the Federal University of Amazonas are an admixed group. Fishes of the aquaculture stations are differentiated from each other and from the wild fish. Genetic diversity of the aquaculture fishes was not different from the wild fishes, and thus, inbreeding is unlikely to be a concern. Outbreeding depression, however, should be of concern given the observed levels of admixture in the aquaculture stocks. We conclude the article with recommendations for good practices to minimize the likelihood of inbreeding and outbreeding depression.