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Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families as well as 438 subjects from an independent, sporadic BD case-control cohort were analysed. Polygenic risk scores (PRS) for BD, schizophrenia, and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had significantly higher PRS for all three psychiatric disorders than the independent controls, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and sporadic BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses, therefore, demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. The PRS explained only part of the observed phenotypic variance and rare variants might have also contributed to disease development.
Plants, fungi and algae are important components of global biodiversity and are fundamental to all ecosystems. They are the basis for human well-being, providing food, materials and medicines. Specimens of all three groups of organisms are accommodated in herbaria, where they are commonly referred to as botanical specimens.The large number of specimens in herbaria provides an ample, permanent and continuously improving knowledge base on these organisms and an indispensable source for the analysis of the distribution of species in space and time critical for current and future research relating to global biodiversity. In order to make full use of this resource, a research infrastructure has to be built that grants comprehensive and free access to the information in herbaria and botanical collections in general. This can be achieved through digitization of the botanical objects and associated data.The botanical research community can count on a long-standing tradition of collaboration among institutions and individuals. It agreed on data standards and standard services even before the advent of computerization and information networking, an example being the Index Herbariorum as a global registry of herbaria helping towards the unique identification of specimens cited in the literature.In the spirit of this collaborative history, 51 representatives from 30 institutions advocate to start the digitization of botanical collections with the overall wall-to-wall digitization of the flat objects stored in German herbaria. Germany has 70 herbaria holding almost 23 million specimens according to a national survey carried out in 2019. 87% of these specimens are not yet digitized. Experiences from other countries like France, the Netherlands, Finland, the US and Australia show that herbaria can be comprehensively and cost-efficiently digitized in a relatively short time due to established workflows and protocols for the high-throughput digitization of flat objects.Most of the herbaria are part of a university (34), fewer belong to municipal museums (10) or state museums (8), six herbaria belong to institutions also supported by federal funds such as Leibniz institutes, and four belong to non-governmental organizations. A common data infrastructure must therefore integrate different kinds of institutions.Making full use of the data gained by digitization requires the set-up of a digital infrastructure for storage, archiving, content indexing and networking as well as standardized access for the scientific use of digital objects. A standards-based portfolio of technical components has already been developed and successfully tested by the Biodiversity Informatics Community over the last two decades, comprising among others access protocols, collection databases, portals, tools for semantic enrichment and annotation, international networking, storage and archiving in accordance with international standards. This was achieved through the funding by national and international programs and initiatives, which also paved the road for the German contribution to the Global Biodiversity Information Facility (GBIF).Herbaria constitute a large part of the German botanical collections that also comprise living collections in botanical gardens and seed banks, DNA- and tissue samples, specimens preserved in fluids or on microscope slides and more. Once the herbaria are digitized, these resources can be integrated, adding to the value of the overall research infrastructure. The community has agreed on tasks that are shared between the herbaria, as the German GBIF model already successfully demonstrates.We have compiled nine scientific use cases of immediate societal relevance for an integrated infrastructure of botanical collections. They address accelerated biodiversity discovery and research, biomonitoring and conservation planning, biodiversity modelling, the generation of trait information, automated image recognition by artificial intelligence, automated pathogen detection, contextualization by interlinking objects, enabling provenance research, as well as education, outreach and citizen science.We propose to start this initiative now in order to valorize German botanical collections as a vital part of a worldwide biodiversity data pool.
Mammalian retinae have rod photoreceptors for night vision and cone photoreceptors for daylight and colour vision. For colour discrimination, most mammals possess two cone populations with two visual pigments (opsins) that have absorption maxima at short wavelengths (blue or ultraviolet light) and long wavelengths (green or red light). Microchiropteran bats, which use echolocation to navigate and forage in complete darkness, have long been considered to have pure rod retinae. Here we use opsin immunohistochemistry to show that two phyllostomid microbats, Glossophaga soricina and Carollia perspicillata, possess a significant population of cones and express two cone opsins, a shortwave-sensitive (S) opsin and a longwave-sensitive (L) opsin. A substantial population of cones expresses S opsin exclusively, whereas the other cones mostly coexpress L and S opsin. S opsin gene analysis suggests ultraviolet (UV, wavelengths <400 nm) sensitivity, and corneal electroretinogram recordings reveal an elevated sensitivity to UV light which is mediated by an S cone visual pigment. Therefore bats have retained the ancestral UV tuning of the S cone pigment. We conclude that bats have the prerequisite for daylight vision, dichromatic colour vision, and UV vision. For bats, the UV-sensitive cones may be advantageous for visual orientation at twilight, predator avoidance, and detection of UV-reflecting flowers for those that feed on nectar.
Background: Breast cancer (BC) is the most frequent female cancer and preferentially metastasizes to bone. The transcription factor TGFB-induced factor homeobox 1 (TGIF) is involved in bone metabolism. However, it is not yet known whether TGIF is associated with BC bone metastasis or patient outcome and thus of potential interest. Methods: TGIF expression was analyzed by immunohistochemistry in 1197 formalin-fixed, paraffin-embedded tissue samples from BC patients treated in the GAIN (German Adjuvant Intergroup Node-Positive) study with two adjuvant dose-dense schedules of chemotherapy with or without bisphosphonate ibandronate. TGIF expression was categorized into negative/low and moderate/strong staining. Endpoints were disease-free survival (DFS), overall survival (OS) and time to primary bone metastasis as first site of relapse (TTPBM). Results: We found associations of higher TGIF protein expression with smaller tumor size (p= 0.015), well differentiated phenotype (p< 0.001) and estrogen receptor (ER)-positive BC (p< 0.001). Patients with higher TGIF expression levels showed a significantly longer disease-free (DFS: HR 0.75 [95%CI 0.59–0.95], log-rank p=0.019) and overall survival (OS: HR 0.69 [95%CI 0.50–0.94], log-rank p= 0.019), but no association with TTPBM (HR 0.77 [95%CI 0.51–1.16]; p= 0.213). Univariate analysis in molecular subgroups emphasized that elevated TGIF expression was prognostic for both DFS and OS in ER-positive BC patients (DFS: HR 0.68 [95%CI 0.51–0.91]; log-rank p= 0.009, interaction p= 0.130; OS: HR 0.60 [95%CI 0.41–0.88], log-rank p= 0.008, interaction p= 0.107) and in the HER2-negative subgroup (DFS:HR 0.67 [95%CI 0.50–0.88], log-rank p= 0.004, interaction p= 0.034; OS: HR 0.57 [95%CI 0.40–0.81], log-rank p= 0.002, interaction p= 0.015). Conclusions: Our results suggest that moderate to high TGIF expression is a common feature of breast cancer cells and that this is not associated with bone metastases as first site of relapse. However, a reduced expression is linked to tumor progression, especially in HER2-negative breast cancer.
Following publication of the original article, the authors noticed an incorrect affiliation for Christine Stürken and Udo Schumacher. The correct affiliations are as follows: Christine Stürken: Institute of Anatomy and Experimental Morphology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. Udo Schumacher: Institute of Anatomy and Experimental Morphology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. The affiliations have been correctly published in this correction and the original article has been updated.
A list of authors and their affiliations appears at the end of the paper New-particle formation is a major contributor to urban smog, but how it occurs in cities is often puzzling. If the growth rates of urban particles are similar to those found in cleaner environments (1–10 nanometres per hour), then existing understanding suggests that new urban particles should be rapidly scavenged by the high concentration of pre-existing particles. Here we show, through experiments performed under atmospheric conditions in the CLOUD chamber at CERN, that below about +5 degrees Celsius, nitric acid and ammonia vapours can condense onto freshly nucleated particles as small as a few nanometres in diameter. Moreover, when it is cold enough (below −15 degrees Celsius), nitric acid and ammonia can nucleate directly through an acid–base stabilization mechanism to form ammonium nitrate particles. Given that these vapours are often one thousand times more abundant than sulfuric acid, the resulting particle growth rates can be extremely high, reaching well above 100 nanometres per hour. However, these high growth rates require the gas-particle ammonium nitrate system to be out of equilibrium in order to sustain gas-phase supersaturations. In view of the strong temperature dependence that we measure for the gas-phase supersaturations, we expect such transient conditions to occur in inhomogeneous urban settings, especially in wintertime, driven by vertical mixing and by strong local sources such as traffic. Even though rapid growth from nitric acid and ammonia condensation may last for only a few minutes, it is nonetheless fast enough to shepherd freshly nucleated particles through the smallest size range where they are most vulnerable to scavenging loss, thus greatly increasing their survival probability. We also expect nitric acid and ammonia nucleation and rapid growth to be important in the relatively clean and cold upper free troposphere, where ammonia can be convected from the continental boundary layer and nitric acid is abundant from electrical storms.
In the past, the genetically diabetic-obese diabetes/diabetes (db/db) and obese/obese (ob/ob) mouse strains were used to investigate mechanisms of diabetes-impaired wound healing. Here we determined patterns of skin repair in genetically normal C57Bl/6J mice that were fed using a high fat diet (HFD) to induce a diabetes-obesity syndrome. Wound closure was markedly delayed in HFD-fed mice compared to mice which had received a standard chow diet (CD). Impaired wound tissue of HFD mice showed a marked prolongation of wound inflammation. Expression of vascular endothelial growth factor (VEGF) was delayed and associated with the disturbed formation of wound margin epithelia and an impaired angiogenesis in the reduced granulation tissue. Normal wound contraction was retarded and disordered. Wound disorders in obese C57Bl/6J mice were paralleled by a prominent degradation of the inhibitor of NFκB (IκB-α) in the absence of an Akt activation. By contrast to impaired wound conditions in ob/ob mice, late wounds of HFD mice did not develop a chronic inflammatory state and were epithelialized after 11 days of repair. Thus, only genetically obese and diabetic ob/ob mice finally developed chronic wounds and therefore represent a better suited experimental model to investigate diabetes-induced wound healing disorders.
The project focuses on the efficiency of combined technologies to reduce the release of micropollutants and bacteria into surface waters via sewage treatment plants of different size and via stormwater overflow basins of different types. As a model river in a highly populated catchment area, the river Schussen and, as a control, the river Argen, two tributaries of Lake Constance, Southern Germany, are under investigation in this project. The efficiency of the different cleaning technologies is monitored by a wide range of exposure and effect analyses including chemical and microbiological techniques as well as effect studies ranging from molecules to communities.
Ziel: Wiederansiedlungen und anderen Formen der gezielten Einbürgerung kommen im Naturschutz eine wachsende Bedeutung zu, nicht zuletzt vor dem Hintergrund zukünftiger Klimaveränderungen. Besonders in fragmentierten Habitaten können Wiederansiedlungen ein geeignetes Mittel sein, um eine hohe Artenvielfalt zu erhalten bzw. wieder herzustellen. In dieser Untersuchung wurden Informationen zu bisherigen Wiederansiedlungsversuchen von Pflanzenarten in Deutschland zusammengetragen, um folgende Fragen zu beantworten: (1) Wie verteilen sich die in Wiederansiedlungsprojekten berücksichtigten Arten auf verschiedene Pflanzenfamilien, Standorttypen, Habitattypen und ökologische Strategietypen, und sind gefährdete Arten bestimmter Eigenschaften und Ansprüche, verglichen mit der Gesamtzahl gefährdeter Arten, in Wiederansiedlungsprojekten adäquat repräsentiert? (2) Werden Arten, für die national oder regional eine besonders große Verantwortlichkeit besteht, in Wiederansiedlungsprojekten hinreichend berücksichtigt? (3) Beeinflusst die Auswahl der wiedereinzubringenden Arten die Chancen für einen Erfolg oder Misserfolg der Projekte?
Methoden: Informationen zu Wiederansiedlungsprojekten in Deutschland wurden aus publizierten und Internet-Quellen sowie unveröffentlichten Berichten zusammengetragen. Berücksichtigt wurden dabei Versuche, die auf einzelne Arten ausgerichtet waren und im Rahmen wissenschaftlicher oder Naturschutz-bezogener Projekte durchgeführt wurden. Für alle Arten wurden Daten zur Systematik, Lebensform, zu ökologischen Merkmalen und Habitatansprüchen zusammengestellt. Eine Liste aller national oder regional gefährdeten, für Wiederansiedlungen berücksichtigten und nicht-berücksichtigten Arten diente als Referenz für die statistischen Auswertungen.
Ergebnisse: Die Liste aller wiedereingebürgerten Gefäßpflanzen umfasste 196 Arten. Im Vergleich zur Gesamtheit aller gefährdeten Taxa in Deutschland waren Arten aus Familien mit großen und auffälligen, oft insektenbestäubten Blüten (zum Beispiel Orchidaceae) überrepräsentiert. Häufiger als statistisch erwartet wurden Arten aus halb-natürlichen Habitattypen, wie Trockenrasen und Heiden, wiederangesiedelt. Besonders viele Projekte betrafen Arten in Kalkmagerrasen auf trockenen, basenreichen und nährstoffarmen Standorten. Im Gegensatz dazu waren Taxa naturnaher Pflanzengemeinschaften (alpine und Stein-Formationen, Wälder) unterrepräsentiert. Etwa 25 % aller wiederangesiedelten Arten gelten regional als gefährdet, deutschlandweit aber als ungefährdet. Von den 150 Arten, für die Deutschland eine besonders große Verantwortlichkeit trägt, wurden nur 14 (9,3 %) in Wiedereinbürgerungsprojekten berücksichtigt. Der Erfolg der Wiederansiedlungen war nur in einem Drittel der Fälle dokumentiert, in denen sich zeigte, dass Wiedereinbürgerungen in nährstoffarmen Lebensräumen relativ oft erfolglos bleiben, Versuche mit nährstoffbedürftigen und konkurrenzstarken Arten dagegen häufiger gelingen.
Schlussfolgerungen: Wiederansiedlungen gefährdeter Arten sollten stärker auf die gefährdeten Arten fokussieren, für die national oder regional eine besonders große Verantwortlichkeit besteht. Die unterschiedlichen Erfolgschancen von Wiederansiedlungen in verschiedenen Habitaten sollten stärker als bisher bei der Auswahl der Arten berücksichtigt werden.
Nach Nutzungsaufgabe ehemals artenreicher Feuchtwiesen (Senecioni-Brometum racemosi) der Talauen entwickelten sich artenarme Hochstaudenfluren. Das qualitative Ausmaß der Veränderungen konnte am Beispiel des mittleren Ostetals durch den Vergleich genauer Vegetationskarten und Dauerquadrataufnahmen analysiert werden. Der drastische Artenzahlrückgang ist verbunden mit der Dominanz weniger, hochwüchsiger Arten. Phalaridetum, Glycerietum, Filipendula- und Convolvuletalia-Gesellschaften sind auch noch nach 30 Jahren Brache Folgegesellschaften des Senecioni-Brometum. Aufgrund ihrer Konstitutionsmerkmale (Nährstoffakkumulation, Phytomasseproduktion und Fähigkeit, mit kräftigen Rhizomausläufern hohe Streuauflagen zu durchwachsen) sind Filipendula, Glyceria oder Phalaris in der Lage, in allen Ausbildungen der Sumpfdotterblumen-Wassergreiskrautwiesen schnell die Vorherrschaft zu gewinnen. Standorttypische Gehölze benachbarter Alno-Ulmion-Gesellschaften konnten sich infolge starker Beschattung noch nicht etablieren. Nach Wiederaufnahme der Nutzung ist bereits in den ersten 3 Jahren ein gravierender Ertragsrückgang festzustellen. In den nicht gedüngten Mädesüß-, Wasserschwaden- und Rohrglanzgras-Brachen wird bei zweimaliger Mahd bereits nach 3 Jahren eine erfolgsversprechende Restitution artenreicher Sumpfdotterblumenwiesen eingeleitet: viele Kennarten charakterisieren den rapiden Anstieg der Artenzahl. Die Reversibilität der Bracheentwicklung kann mit einer schnellen "biologischen Auslagerung" der naturnahen (nicht meliorierten) Brachestandorte erklärt werden.
