Signatures of recent positive selection often overlap across human populations, but the question of how often these overlaps represent a single ancestral event remains unresolved. If a single selective event spread across many populations, the same sweeping haplotype should appear in each population and the selective pressure could be common across populations and environments. Identifying such shared selective events could identify genomic loci and human traits important in recent history across the globe. Additionally, genomic annotations that recently became available could help attach these signatures to a potential gene and molecular phenotype selected across populations. Here, we present a catalog of selective sweeps in humans, and identify those that overlap and share a sweeping haplotype. We connect these sweep overlaps with potential biological mechanisms at several loci, including potential new sites of adaptive introgression, the glycophorin locus associated with malarial resistance, and the alcohol dehydrogenase cluster associated with alcohol dependency.
Background A number of epidemiological and genetic studies have attempted to determine whether levels of circulating lipids are associated with risks of various cancers, including breast cancer (BC). However, it remains unclear whether a causal relationship exists between lipids and BC. If alteration of lipid levels also reduced risk of BC, this could present a target for disease prevention. This study aimed to assess a potential causal relationship between genetic variants associated with plasma lipid traits (high-density lipoprotein, HDL; lowdensity lipoprotein, LDL; triglycerides, TGs) with risk for BC using Mendelian randomization (MR). Methods and findings Data from genome-wide association studies in up to 215,551 participants from the Million Veteran Program (MVP) were used to construct genetic instruments for plasma lipid traits.
Saline to freshwater invasions have become increasingly common in recent years. A key hypothesis is that rates of freshwater invasions have been amplified in recent years by increased food concentration, yet this hypothesis has remained unexplored. We examined whether elevated food concentration could enhance freshwater tolerance, and whether this effect evolves following saline to freshwater invasions. We examined physiological response to salinity and food concentration in a 2 × 2 factorial design, using ancestral brackish and freshwater invading populations of the copepod Eurytemora affinis. We found that high food concentration significantly increases low-salinity tolerance. This effect was reduced in the freshwater population, indicating evolution following the freshwater invasion. Thus, ample food could enable freshwater invasions, allowing subsequent evolution of low-salinity tolerance even under food-poor conditions. We also compared effects of food concentration on freshwater survival between two brackish populations from the native range. Impacts of food concentration on freshwater survival differed between the brackish populations, suggesting variation in functional properties affecting their propensity to invade freshwater habitats. The key implication is that high food concentration could profoundly extend range expansions of brackishwater species into freshwater habitats, potentially allowing for condition-specific competition between saline invaders and resident freshwater species.
The Pancrustacea, which include crustaceans and hexapods, have successfully colonized marine, freshwater, and terrestrial habitats. While members of the class Malacostraca (e.g., crabs, shrimp) often display immense osmoregulatory capacities, more basally branching crustaceans (e.g., copepods, branchiopods) tend to possess less-specialized osmoregulatory structures that have been poorly characterized. Remarkably, some of these more basal taxa have also colonized diverse habitats. For instance, the copepod Eurytemora affinis has recently invaded freshwater habitats multiple times independently but lack obvious osmoregulatory structures. To explore localization of ion exchange, we performed silver staining, immunohistochemical staining, and transmission electron microscopy. Our results revealed localization of ion transport within the maxillary glands and on four pairs of swimming legs. Silver staining revealed ion exchange at the maxillary pores and on the endopods and exopods of swimming legs P1 through P4. Immunohistochemical assays localized ion transport enzymes V-type H(+)-ATPase and Na(+)/K(+)-ATPase in the maxillary glands and swimming legs as well. Finally, transmission electron microscopy identified specialized ionocytes within these anatomical regions. These investigations uncovered novel osmoregulatory structures at the swimming legs, which we designate the "Crusalis organs." Our findings identified specific tissues specialized for ion transport, potentially enabling this small crustacean to rapidly transition into freshwater habitats.
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