The extent of human genomic structural variation suggests that there must be portions of the genome yet to be discovered, annotated and characterized at the sequence level. We present a resource and analysis of 2,363 novel insertion sequences corresponding to 720 genomic loci. We show that a substantial fraction of these sequences are either missing, fragmented or mis-assigned when compared to recent de novo sequence assemblies from short-read next-generation sequence data. We determine that 18–37% of these novel insertions are copy-number polymorphic, including loci that show extensive population stratification among Europeans, Asians and Africans. Complete sequencing of 156 of these insertions identifies novel exons and conserved non-coding sequences not yet represented in the reference genome. We develop a method to accurately genotype these novel insertions by mapping next-generation sequencing datasets to the breakpoint thereby providing a means to characterize copy-number status for regions previously inaccessible to SNP microarrays.
Fish were collected from 16 sites on rivers in the Columbia River Basin (CRB) from September 1997 to April 1998 to document temporal and spatial trends in the concentrations of accumulative contaminants and to assess contaminant effects on the fish. Sites were located on the mainstem of the Columbia River and on the Snake, Willamette, Yakima, Salmon, and Flathead Rivers. Common carp (Cyprinus carpio), black bass (Micropterus sp.), and largescale sucker (Catostomus macrocheilus) were the targeted species. Fish were field-examined for external and internal lesions, selected organs were weighed to compute somatic indices, and tissue and fluid samples were preserved for fish health and reproductive biomarker analyses. Composite samples of whole fish, grouped by species and gender, from each site were analyzed for organochlorine and elemental contaminants using instrumental methods and for 2,3,7,8-tetrachloro dibenzo-p-dioxin-like activity (TCDD-EQ) using the H4IIE rat hepatoma cell bioassay. Overall, pesticide concentrations were greatest in fish from lower CRB sites and elemental concentrations were greatest in fish from upper CRB sites. These patterns reflected land uses. Lead (Pb) concentrations in fish from the Columbia River at Northport and Grand Coulee, Washington (WA) exceeded fish and wildlife toxicity thresholds (>0.4 microg/g). Selenium (Se) concentrations in fish from the Salmon River at Riggins, Idaho (ID), the Columbia River at Vernita Bridge, WA, and the Yakima River at Granger, WA exceeded toxicity thresholds for piscivorous wildlife (>0.6 microg/g). Mercury (Hg) concentrations in fish were elevated throughout the basin but were greatest (>0.4 microg/g) in predatory fish from the Salmon River at Riggins, ID, the Yakima River at Granger, WA, and the Columbia River at Warrendale, Oregon (OR). Residues of p,p'-DDE were greatest (>0.8 microg/g) in fish from agricultural areas of the Snake, Yakima, and Columbia River basins but were not detected in upper CRB fish. Other organochlorine pesticides did not exceed toxicity thresholds in fish or were detected infrequently. Total polychlorinated biphenyls (PCBs; >0.11 microg/g) and TCDD-EQs (>5 pg/g) exceeded wildlife guidelines in fish from the middle and lower CRB, and ethoxyresorufin O-deethylase (EROD) activity was also elevated at many of the same sites. Temporal trend analysis indicated decreasing or stable concentrations of Pb, Se, Hg, p,p'-DDE, and PCBs at most sites where historical data were available. Altered biomarkers were noted in fish throughout the CRB. Fish from some stations had responded to chronic contaminant exposure as indicated by fish health and reproductive biomarker results. Although most fish from some sites had grossly visible external or internal lesions, histopathological analysis determined these to be inflammatory responses associated with helminth or myxosporidian parasites. Many largescale sucker from the Columbia River at Northport and Grand Coulee, WA had external lesions and enlarged spleens, which were likely associated with...
The ability of alien plant species to invade a region depends not only on attributes of the plant, but on characteristics of the habitat being invaded. Here, we examine characteristics that may influence the success of alien plant invasion in mixed‐grass prairie at Theodore Roosevelt National Park, in western North Dakota, USA. The park consists of two geographically separate units with similar vegetation types and management history, which allowed us to examine the effects of native vegetation type, anthropogenic disturbance, and the separate park units on the invasion of native plant communities by alien plant species common to counties surrounding both park units. If matters of chance related to availability of propagules and transient establishment opportunities determine the success of invasion, park unit and anthropogenic disturbance should better explain the variation in alien plant frequency. If invasibility is more strongly related to biotic or physical characteristics of the native plant communities, models of alien plant occurrence should include vegetation type as an explanatory variable. We examined >1300 transects across all vegetation types in both units of the park. Akaike's Information Criterion (AIC) indicated that the fully parameterized model, including the interaction among vegetation type, disturbance, and park unit, best described the distribution of both total number of alien plants per transect and frequency of alien plants on transects where they occurred. Although all vegetation types were invaded by alien plants, mesic communities had both greater numbers and higher frequencies of alien plants than did drier communities. A strong element of stochasticity, reflected in differences in frequencies of individual species between the two park units, suggests that prediction of risk of invasion will always involve uncertainty. In addition, despite well‐documented associations between anthropogenic disturbance and alien plant invasion, five of the six most abundant alien species at Theodore Roosevelt National Park had distributions unrelated to disturbance. We recommend that vegetation type be explicitly taken into account when designing monitoring plans for alien species in natural areas.
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