Adapting to climate change is a pressing societal imperative. Here, we examine water governance arrangements in Australia's Murray-Darling basin, evaluating their attributes and adequacy for ...fostering climate adaptation. We synthesize data from expert interviews and review water and climate policies, analyzing their framing, logic, and dominant discourses. Our analysis indicates that prescriptive top-down planning and administratively rational approaches constrain Australia's climate adaptation. Current governance regimes inhibit innovation due to dominant governance approaches that are centralist and managerial, reinforcing the status quo and privileging irrigation-based economies. In the Murray-Darling basin, reforms to policy settings and institutional arrangements are needed to mobilize industries and communities in exploring alternative water futures that support transformations. We offer two contrasting archetypes for climate-adaptive water policy based on foundationally different assumptions about what drives climate vulnerability and builds adaptive capacities.
The Murray-Darling Basin Plan, a major initiative to return water from irrigators to the environment, has been lauded as world-class water reform. The enabling legislation for the Basin Plan, the ...Water Act, gains its constitutional legitimacy from international treaties such as the Ramsar Convention on Wetlands. This Act mandated that water be returned from consumptive uses to the environment. An allocation of 2,750 GL/yr was set but has been reduced by the 'Sustainable Diversion Limit Adjustment Mechanism' (SDLAM), intended to achieve equivalent environmental benefits with less water. We present a synthesis of changes in decision contexts that have led to water reforms being 'watered down'. We analysed the policy discourse of water reform to assess whether SDLAM projects will achieve outcomes congruent with Australia's international treaty obligations. We found little or no alignment between the purpose of the SDLAM projects and the principles of the treaties and the Water Act. As water scarcity increases under climate change, attempting to conserve wetlands (including rivers) with less water while maintaining or increasing irrigation diversions is likely to prove maladaptive. A major reframing of environmental water policy and management is required to enable meaningful and effective adaptation to climate change.
•Rare variants causal of recessive hemostasis disorders have clinical consequences in carriers.•Common variants modify these consequences and are one of the reasons for different phenotypic ...expressivity.
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Rare genetic diseases affect millions, and identifying causal DNA variants is essential for patient care. Therefore, it is imperative to estimate the effect of each independent variant and improve their pathogenicity classification. Our study of 140 214 unrelated UK Biobank (UKB) participants found that each of them carries a median of 7 variants previously reported as pathogenic or likely pathogenic. We focused on 967 diagnostic-grade gene (DGG) variants for rare bleeding, thrombotic, and platelet disorders (BTPDs) observed in 12 367 UKB participants. By association analysis, for a subset of these variants, we estimated effect sizes for platelet count and volume, and odds ratios for bleeding and thrombosis. Variants causal of some autosomal recessive platelet disorders revealed phenotypic consequences in carriers. Loss-of-function variants in MPL, which cause chronic amegakaryocytic thrombocytopenia if biallelic, were unexpectedly associated with increased platelet counts in carriers. We also demonstrated that common variants identified by genome-wide association studies (GWAS) for platelet count or thrombosis risk may influence the penetrance of rare variants in BTPD DGGs on their associated hemostasis disorders. Network-propagation analysis applied to an interactome of 18 410 nodes and 571 917 edges showed that GWAS variants with large effect sizes are enriched in DGGs and their first-order interactors. Finally, we illustrate the modifying effect of polygenic scores for platelet count and thrombosis risk on disease severity in participants carrying rare variants in TUBB1 or PROC and PROS1, respectively. Our findings demonstrate the power of association analyses using large population datasets in improving pathogenicity classifications of rare variants.
Brassica oleracea is a valuable vegetable species that has contributed to human health and nutrition for hundreds of years and comprises multiple distinct cultivar groups with diverse morphological ...and phytochemical attributes. In addition to this phenotypic wealth, B. oleracea offers unique insights into polyploid evolution, as it results from multiple ancestral polyploidy events and a final Brassiceae-specific triplication event. Further, B. oleracea represents one of the diploid genomes that formed the economically important allopolyploid oilseed, Brassica napus. A deeper understanding of B. oleracea genome architecture provides a foundation for crop improvement strategies throughout the Brassica genus.
We generate an assembly representing 75% of the predicted B. oleracea genome using a hybrid Illumina/Roche 454 approach. Two dense genetic maps are generated to anchor almost 92% of the assembled scaffolds to nine pseudo-chromosomes. Over 50,000 genes are annotated and 40% of the genome predicted to be repetitive, thus contributing to the increased genome size of B. oleracea compared to its close relative B. rapa. A snapshot of both the leaf transcriptome and methylome allows comparisons to be made across the triplicated sub-genomes, which resulted from the most recent Brassiceae-specific polyploidy event.
Differential expression of the triplicated syntelogs and cytosine methylation levels across the sub-genomes suggest residual marks of the genome dominance that led to the current genome architecture. Although cytosine methylation does not correlate with individual gene dominance, the independent methylation patterns of triplicated copies suggest epigenetic mechanisms play a role in the functional diversification of duplicate genes.
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