83 research outputs found

    Simulating counterfactual representation

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    We show how to use multilevel modeling and post-stratification to estimate legislative outcomes under counterfactual representation schemes that, for example, boost the representation of women or translate votes into seats differently. We apply this technique to two research questions: (1) Would the U.S. Congress be less polarized if state delegations were formed according to the principle of party proportional representation? (2) Would there have been stronger support for legalizing same-sex marriage in the U.K. House of Commons if Parliament more closely reflected the population in gender and age

    Functional characterisation of novel NR5A1 variants reveals multiple complex roles in Disorders of Sex Development

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    Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here, we examine the functional effect of these changes in relation to the patient phenotype. All novel variants tested had reduced trans-activational activity, while several had altered protein level, localization, or conformation. In addition, we found evidence of new roles for SF1 protein domains including a region within the ligand binding domain that appears to contribute to SF1 regulation of Mu¨llerian development. There was little correlation between the severity of the phenotype and the nature of the NR5A1 variant. We report two familial cases of NR5A1 deficiency with evidence of variable expressivity; we also report on individuals with oligogenic inheritance. Finally, we found that the nature of the NR5A1 variant does not inform patient outcomes (including pubertal androgenization and malignancy risk). This study adds nine novel pathogenic NR5A1 variants to the pool of diagnostic variants. It highlights a greater need for understanding the complexity of SF1 function and the additional factors that contribute

    Anthropogenically-mediated density dependence in a declining farmland bird

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    Land management intrinsically influences the distribution of animals and can consequently alter the potential for density-dependent processes to act within populations. For declining species, high densities of breeding territories are typically considered to represent productive populations. However, as density-dependent effects of food limitation or predator pressure may occur (especially when species are dependent upon separate nesting and foraging habitats), high territory density may limit per-capita productivity. Here, we use a declining but widespread European farmland bird, the yellowhammer Emberiza citrinella L., as a model system to test whether higher territory densities result in lower fledging success, parental provisioning rates or nestling growth rates compared to lower densities. Organic landscapes held higher territory densities, but nests on organic farms fledged fewer nestlings, translating to a 5 times higher rate of population shrinkage on organic farms compared to conventional. In addition, when parental provisioning behaviour was not restricted by predation risk (i.e. at times of low corvid activity), nestling provisioning rates were higher at lower territory densities, resulting in a much greater increase in nestling mass in low density areas, suggesting that food limitation occurred at high densities. These findings in turn suggest an ecological trap, whereby preferred nesting habitat does not provide sufficient food for rearing nestlings at high population density, creating a population sink. Habitat management for farmland birds should focus not simply on creating a high nesting density, but also on ensuring heterogeneous habitats to provide food resources in close proximity to nesting birds, even if this occurs through potentially restricting overall nest density but increasing population-level breeding success

    Farmers’ perceptions of climate change : identifying types

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    Ambitious targets to reduce greenhouse gas (GHG) emissions from agriculture have been set by both national governments and their respective livestock sectors. We hypothesize that farmer self-identity influences their assessment of climate change and their willingness to im- plement measures which address the issue. Perceptions of climate change were determined from 286 beef/sheep farmers and evaluated using principal component analysis (PCA). The analysis elicits two components which evaluate identity (productivism and environmental responsibility), and two components which evaluate behavioral capacity to adopt mitigation and adaptation measures (awareness and risk perception). Subsequent Cluster Analyses reveal four farmer types based on the PCA scores. ‘The Productivist’ and ‘The Countryside Steward’ portray low levels of awareness of climate change, but differ in their motivation to adopt pro-environmental behavior. Conversely, both ‘The Environmentalist’ and ‘The Dejected’ score higher in their awareness of the issue. In addition, ‘The Dejected’ holds a high sense of perceived risk; however, their awareness is not conflated with an explicit understanding of agricultural GHG sources. With the exception of ‘The Environmentalist’, there is an evident disconnect between perceptions of agricultural emission sources and their contribution towards GHG emissions amongst all types. If such linkages are not con- ceptualized, it is unlikely that behavioral capacities will be realized. Effective communication channels which encour- age action should target farmers based on the groupings depicted. Therefore, understanding farmer types through the constructs used in this study can facilitate effective and tai- lored policy development and implementation

    Mammalian sex determination—insights from humans and mice

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    Disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Many of the genes required for gonad development have been identified by analysis of DSD patients. However, the use of knockout and transgenic mouse strains have contributed enormously to the study of gonad gene function and interactions within the development network. Although the genetic basis of mammalian sex determination and differentiation has advanced considerably in recent years, a majority of 46,XY gonadal dysgenesis patients still cannot be provided with an accurate diagnosis. Some of these unexplained DSD cases may be due to mutations in novel DSD genes or genomic rearrangements affecting regulatory regions that lead to atypical gene expression. Here, we review our current knowledge of mammalian sex determination drawing on insights from human DSD patients and mouse models
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