50 research outputs found

    Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

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    DNA methylation quantitative trait locus (mQTL) analyses on 32,851 participants identify genetic variants associated with DNA methylation at 420,509 sites in blood, resulting in a database of >270,000 independent mQTLs.Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. In the present study, we describe results of DNAm quantitative trait locus (mQTL) analyses on 32,851 participants, identifying genetic variants associated with DNAm at 420,509 DNAm sites in blood. We present a database of >270,000 independent mQTLs, of which 8.5% comprise long-range (trans) associations. Identified mQTL associations explain 15-17% of the additive genetic variance of DNAm. We show that the genetic architecture of DNAm levels is highly polygenic. Using shared genetic control between distal DNAm sites, we constructed networks, identifying 405 discrete genomic communities enriched for genomic annotations and complex traits. Shared genetic variants are associated with both DNAm levels and complex diseases, but only in a minority of cases do these associations reflect causal relationships from DNAm to trait or vice versa, indicating a more complex genotype-phenotype map than previously anticipated.Molecular Epidemiolog

    Cosmogenic 10 Be and 26 Al exposure ages of tors and erratics, Cairngorm Mountains, Scotland: Timescales for the development of a classic landscape of selective linear glacial erosion

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    The occurrence of tors within glaciated regions has been widely cited as evidence for the preservation of relic pre-Quaternary landscapes beneath protective covers of non-erosive dry-based ice. Here, we test for the preservation of pre-Quaternary landscapes with cosmogenic surface exposure dating of tors. Numerous granite tors are present on summit plateaus in the Cairngorm Mountains of Scotland where they were covered by local ice caps many times during the Pleistocene. Cosmogenic 10Be and 26Al data together with geomorphic relationships reveal that these landforms are more dynamic and younger than previously suspected. Many Cairngorm tors have been bulldozed and toppled along horizontal joints by ice motion, leaving event surfaces on tor remnants and erratics that can be dated with cosmogenic nuclides. As the surfaces have been subject to episodic burial by ice, an exposure model based upon ice and marine sediment core proxies for local glacial cover is necessary to interpret the cosmogenic nuclide data. Exposure ages and weathering characteristics of tors are closely correlated. Glacially modified tors and boulder erratics with slightly weathered surfaces have 10Be exposure ages of about 15 to 43 ka. Nuclide inheritance is present in many of these surfaces. Correction for inheritance indicates that the eastern Cairngorms were deglaciated at 15.6 ± 0.9 ka. Glacially modified tors with moderate to advanced weathering features have 10Be exposure ages of 19 to 92 ka. These surfaces were only slightly modified during the last glacial cycle and gained much of their exposure during the interstadial of marine Oxygen Isotope Stage 5 or earlier. Tors lacking evidence of glacial modification and exhibiting advanced weathering have 10Be exposure ages between 52 and 297 ka. Nuclide concentrations in these surfaces are probably controlled by bedrock erosion rates instead of discrete glacial events. Maximum erosion rates estimated from 10Be range from 2.8 to 12.0 mm/ka, with an error weighted mean of 4.1 ± 0.2 mm/ka. Three of these surfaces yield model exposure-plus-burial ages of 295-71+84, 520-141+178, and 626-85+102 ka. A vertical cosmogenic nuclide profile across the oldest sampled tor indicates a long-term emergence rate of 31 ± 2 mm/ka. These findings show that dry-based ice caps are capable of substantially eroding tors by entraining blocks previously detached by weathering processes. Bedrock surfaces and erratic boulders in such settings are likely to have nuclide inheritance and may yield erroneous (too old) exposure ages. While many Cairngorm tors have survived multiple glacial cycles, rates of regolith stripping and bedrock erosion are too high to permit the widespread preservation of pre-Quaternary rock surfaces

    Abating feral Africanized honey bees (Apis mellifera L) to enhance mating control of European queens

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    Abatement of local feral honey-bee colonies was tested as a method to increase the mating control of European queens produced in an Africanized area. Feral colonies within 2 km of a commercial mating apiary at Belén, Guanacaste Province, Costa Rica were targeted. Thirty-eight feral colonies were discovered in the 12.5-km2 study plot between 13 May and 6 June 1992. Abatement techniques included dispensing avermectin-ivermectin paste (applied manually to the abdominal tergites of drones captured during mating flights) and acephate-treated sucrose syrup bait (retrieved by foragers), and spraying nests directly with pyrethroids. Twenty-one of the known colonies were killed or severely weakened by treatments made between 27 May and 5 June. Mating control in pre-abatement (n = 27) and post-abatement (n = 26) queens was estimated by measuring changes in morphology and in frequencies of allozymes (malate dehydrogenase-1100 and hexokinase-1100) of worker progeny relative to reference populations of workers from local Africanized (n = 35) and imported European (n =23) colonies. Five of 23 morphological features shifted significantly toward the European form after abatement. Significantly more post-abatement colonies (85%) than pre-abatement colonies (63%) were classified by multivariate discriminant analysis as European (ie with a probability of Africanization of < 50%). Paternal frequencies of both allozymes were shifted significantly toward European frequencies following abatement; malate dehydrogenase decreased 26% and hexokinase increased 43%. Overall the results suggest that abatement may be useful in augmenting other mating control methods (eg, drone flooding and controlling mating times) but that it is probably not feasible as a unilateral approach to achieving acceptable mating control in heavily Africanized areas

    Deglacial history of the West Antarctic Ice Sheet in the Weddell Sea embayment: Constraints on past ice volume change

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    The retreat history of the West Antarctic Ice Sheet (WAIS) since the Last Glacial Maximum is important for understanding the process of rapid deglaciation, constraining models that seek to predict the future trajectory of the ice sheet, and for estimating rates of sea-level change. Here we report new glacial geologic data from the southwestern Weddell Sea embayment that demonstrate that this part of the WAIS was thinner than previously suggested, and that there was progressive thinning of the ice sheet by 230–480 m since ca. 15 ka. We use geomorphological data and a numerical ice sheet model to reconstruct the ice sheet in the Weddell Sea at the Last Glacial Maximum. The volume of this ice would have added between 1.4 and 2.0 m to postglacial sea-level rise and would not have been sufficient to contribute significantly to meltwater pulse 1A, a rapid rise in sea level ∼14,200 yr ago
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