Contributing to the cultural ecosystem services and human wellbeing debate: A case study application on indicators and linkages

Inadequacies in the indication of cultural ecosystem services (CES) are a hindrance in assessing their comprehensive impacts on human wellbeing. Similarly, uncertainties about the quantity and quality of CES, in real time and space, have hampered the ability of resource managers to precisely take responsive management actions. The aim of the study is to demonstrate, how CES indicators can be identified and qualified in order to link CES to human wellbeing, and to integrate them into the 'ecosystem services cascade' and the Driver-Pressure-State-Impact-Response (DPSIR) models. A case study methodology is applied at the Nairobi-Kiambu (Kenya) peri-urban area. Primary data on CES was collected in the case study through survey, field observations and matrix tables. Secondary data originates from literature analysis. Results show that the participatory identification of CES and human wellbeing indicators could improve their transparency and comprehensibility. The environmental policy formulation and implementation processes have been demonstrated. The tripartite framework of CES-human wellbeing-DPSIR has demonstrated more linkages and feedbacks than initially indicated in the cascade model. For policy formulation and implementation, appropriate communication of results is mandatory. This is illustrated by a terminology that enables the transfer of scientific messages to stakeholders, especially for the local people. The conclusion indicates the importance of consistency in qualifying CES and human wellbeing indicators even at this time of urgency to bridge the gaps existing in CES and human wellbeing research.Catholic Academic Exchange Service (KAAD

Ecosystem services mapping and assessment for policy- and decision-making: Lessons learned from a comparative analysis of European case studies

This paper analyses and compares a set of case studies on ecosystem services (ES) mapping and assessment with the purpose of formulating lessons learned and recommendations. Fourteen case studies were selected during the EU Horizon 2020 “Coordination and Support Action” ESMERALDA to represent different policy- and decision-making processes throughout the European Union, across a wide range of themes, biomes and scales. The analysis is based on a framework that addresses the key steps of an ES mapping and assessment process, namely policy questions, stakeholder identification and involvement, application of mapping and assessment methods, dissemination and communication and implementation. The analysis revealed that most case studies were policy-orientated or gave explicit suggestions for policy implementation in different contexts, including urban, rural and natural areas. Amongst the findings, the importance of starting stakeholder engagement early in the process was confirmed in order to generate interest and confidence in the project and to increase their willingness to cooperate. Concerning mapping and assessment methods, it was found that the integration of methods and results is essential for providing a comprehensive overview from different perspectives (e.g. social, economic). Finally, lessons learned for effective implementation of ES mapping and assessment results are presented and discussed

Dynamic trafficking of wheat γ-gliadin and of its structural domains in tobacco cells, studied with fluorescent protein fusions

Prolamins, the main storage proteins of wheat seeds, are synthesized and retained in the endoplasmic reticulum (ER) of the endosperm cells, where they accumulate in protein bodies (PBs) and are then exported to the storage vacuole. The mechanisms leading to these events are unresolved. To investigate this unconventional trafficking pathway, wheat γ-gliadin and its isolated repeated N-terminal and cysteine-rich C-terminal domains were fused to fluorescent proteins and expressed in tobacco leaf epidermal cells. The results indicated that γ-gliadin and both isolated domains were able to be retained and accumulated as protein body-like structures (PBLS) in the ER, suggesting that tandem repeats are not the only sequence involved in γ-gliadin ER retention and PBLS formation. The high actin-dependent mobility of γ-gliadin PBLS is also reported, and it is demonstrated that most of them do not co-localize with Golgi body or pre-vacuolar compartment markers. Both γ-gliadin domains are found in the same PBLS when co-expressed, which is most probably due to their ability to interact with each other, as indicated by the yeast two-hybrid and FRET-FLIM experiments. Moreover, when stably expressed in BY-2 cells, green fluorescent protein (GFP) fusions to γ-gliadin and its isolated domains were retained in the ER for several days before being exported to the vacuole in a Golgi-dependent manner, and degraded, leading to the release of the GFP ‘core’. Taken together, the results show that tobacco cells are a convenient model to study the atypical wheat prolamin trafficking with fluorescent protein fusions

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Methods: We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]-positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. Results: The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P = 8.2 x 10(53)). In BRCA2 carriers, the strongest association with BC risk was seen for the overall BC PRS (HR = 1.22, 95% CI = 1.17 to 1.28, P = 7.2 x 10(-20)). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. Conclusions: BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice

Objective FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations. Methods We compiled 34 patients with a heterozygous (likely) pathogenic FOXG1 variant. Qualitative assessment of cerebral anomalies was performed by standardized re-analysis of all 34 MRI data sets. Statistical analysis of genetic, clinical and neuroimaging data were performed. We quantified clinical and neuroimaging phenotypes using severity scores. Telencephalic phenotypes of adult Foxg1+/- mice were examined using immunohistological stainings followed by quantitative evaluation of structural anomalies. Results Characteristic neuroimaging features included corpus callosum anomalies (82%), thickening of the fornix (74%), simplified gyral pattern (56%), enlargement of inner CSF spaces (44%), hypoplasia of basal ganglia (38%), and hypoplasia of frontal lobes (29%). We observed a marked, filiform thinning of the rostrum as recurrent highly typical pattern of corpus callosum anomaly in combination with distinct thickening of the fornix as a characteristic feature. Thickening of the fornices was not reported previously in FOXG1 syndrome. Simplified gyral pattern occurred significantly more frequently in patients with early truncating variants. Higher clinical severity scores were significantly associated with higher neuroimaging severity scores. Modeling of Foxg1 heterozygosity in mouse brain recapitulated the associated abnormal cerebral morphology phenotypes, including the striking enlargement of the fornix. Interpretation Combination of specific corpus callosum anomalies with simplified gyral pattern and hyperplasia of the fornices is highly characteristic for FOXG1 syndrome.Peer reviewe

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification

Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood appr

World ocean review: Mit den Meeren leben 6: Arktis und Antarktis – extrem, klimarelevant, gefährdet

Die sechste Ausgabe des „World Ocean Review“ (WOR) widmet sich der Arktis und Antarktis, diesen zwei extremen und ausgesprochen gegensätzlichen Regionen der Erde. Mit profunden Informationen zur Entstehungs- und Entdeckungsgeschichte bietet der WOR 6 ein tiefes Verständnis der Bedeutung der Pole für das Leben auf unserer Erde. Er zeigt zudem die zu beobachtenden Veränderungen in der Tier-und Pflanzenwelt und analysiert die zum Teil schon dramatischen Folgen, die der Klimawandel in diesen äußerst gefährdeten Regionen bewirkt