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To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
A catalog of genetic loci associated with kidney function from analyses of a million individuals
(2019)
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
Portal alumni
(2015)
Die Beliebtheit von Medienberufen ist ungebrochen. Das zeigt sich unter anderem an der Zahl der Studieninteressierten. So haben sich allein in diesem Jahr mehr als 1 500 junge Leute auf einen der 44 Plätze für den Studiengang Medienwissenschaft an der Universität Potsdam beworben. Nach ihrem erfolgreichen Abschluss allerdings konkurrieren die Absolventen am Arbeitsmarkt mit Tausenden Abgängern anderer Hochschulen aus Film-, Medien- und Kommunikationsstudiengängen. Das sind allein in der Region Berlin-Brandenburg jährlich etwa 1 500. Doch nach jahrzehntelangem Boom der Medienbranche hat sich der Arbeitsmarkt im vergangenen Jahrzehnt drastisch verändert. Konjunkturkrise, Kursrückgänge und rückläufige Werbeinvestitionen schwächten die Medien deutlich. Es folgten daraus schlechte Gewinnergebnisse, Einsparungen und Personalreduzierung, insbesondere bei den Printmedien. Die Insolvenz der Frankfurter Rundschau oder die Einstellung der Financial Times Deutschland sind nur zwei eklatante Beispiele. Auf der anderen Seite boomt der dynamische Online-Markt aufgrund des veränderten Nutzerverhaltens insbesondere der jungen Generation, die ihre Informationen zunehmend aus Internet, Apps und sozialen Netzwerken gewinnen. Die Berufsaussichten für all Jene, die „Irgendwas mit Medien“ studieren wollen sind zwar aufgrund des Arbeitsmarktes schwieriger geworden, sie sind aber dennoch vielfältig. Guter Journalismus wird weiterhin benötigt und auch Öffentlichkeitsarbeiter sind gefragt. Darüber hinaus stehen Absolveninspiriert von den Fernsehbildern, als Tausende Flüchtlinge herzlich in München empfangen wurden, kam unserem Kollegen Eric Makswitat die Idee, sich auch auf lokaler Ebene für die hier ankommenden Flüchtlinge zu engagieren. Der Doktorand in der Politikwissenschaft sammelt über das Internet Bücher für Flüchtlinge und gibt sie dann direkt in den Flüchtlingsunterkünften ab. Eric Makswitat ist einer von Vielen, die derzeit einen wichtigen Beitrag zur Bewältigung der Herausforderungen des Flüchtlingszustroms nach Deutschland leisten. Die engagierten Helfer sind „ein Beweis dafür, wie weit die Selbstorganisationskräfte der organisierten Bürgerschaft in unserer Zivilgesellschaft mittlerweile entwickelt sind“, meint dazu der Verwaltungswissenschaftler Jochen Franzke. Unser Kollege Eric ist auch in anderer Hinsicht beispielgebend. Er ist einer von rund achtzig Prozent aller ehemaligen Studierenden, die nach dem Studienabschluss in der Region bleiben, wie eine kürzlich an der Uni veröffentlichte Studie zum Verbleib unserer Absolventinnen und Absolventen ermittelt hat. Unsere Alumni steigen ein in Berufsfeldern der Politik, Wirtschaft und Gesellschaft, sie gründen Firmen und sie engagieren sich beruflich, privat oder gesellschaftlich. Viele davon in Potsdam. Wenn die Universität Potsdam im nächsten Jahr ihr 25-jähriges Jubiläum in und mit der Stadt Potsdam feiern wird und mit Stolz auf hervorragende Leistungen aus Lehre und Forschung verweist, dann ist dies nicht zuletzt den Absolventinnen und Absolventen zu verdanken, die als hochqualifizierte Fachkräfte neueste wissenschaftliche Erkenntnisse in die Praxis überführen. Portal alumni ist deshalb in diesem Jahr hier, zu Hause in Potsdam geblieben. Wir haben Absolventen der Universität Potsdam gesucht, die heute in unterschiedlichen beruflichen und gesellschaftlichen Kontexten in der Region aktiv sind und sich engagieren.
Reflexion ist eine Schlüsselkategorie für die professionelle Entwicklung von Lehrkräften, welche als Ausbildungsziel in den Bildungsstandards für die Lehrkräftebildung verankert ist. Eine Verstetigung universitär geprägter Forschung und Modellierung in der praxisnahen Anwendung im schulischen Kontext bietet Potentiale nachhaltiger Professionalisierung. Die Stärkung reflexionsbezogener Kompetenzen durch Empirie und Anwendung scheint eine phasenübergreifende Herausforderung der Lehrkräftebildung zu sein, die es zu bewältigen gilt. Ziele des Tagungsbandes Reflexion in der Lehrkräftebildung sind eine theoretische Schärfung des Konzeptes „Reflexive Professionalisierung“ und der Austausch über Fragen der Einbettung wirksamer reflexionsbezogener Lerngelegenheiten in die Lehrkräftebildung. Forschende und Lehrende der‚ drei Phasen (Studium, Referendariat sowie Fort- und Weiterbildung) der Lehrkräftebildung stellen Lehrkonzepte und Forschungsprojekte zum Thema Reflexion in der Lehrkräftebildung vor und diskutieren diese. Gemeinsam mit Teilnehmenden aller Phasen und von verschiedenen Standorten der Lehrkräftebildung werden zukünftige Herausforderungen identifiziert und Lösungsansätze herausgearbeitet.
The field of American Jewish studies has recently trained its focus on the transnational dimensions of its subject, reflecting in more sustained ways than before about the theories and methods of this approach. Yet, much of the insight to be gained from seeing American Jewry as constitutively entangled in many ways with other Jewries has not yet been realized. Transnational American Jewish studies are still in their infancy.
This issue of PaRDeS presents current research on the multiple entanglements of American with Central European, especially German-speaking Jewries in the 19th and 20th centuries. The articles reflect the wide range of topics that can benefit from a transnational understanding of the American Jewish experience as shaped by its foreign entanglements.
In this study we compared the phylogeographic patterns of two Rusa species, Rusa unicolor and Rusa timorensis, in order to understand what drove and maintained differentiation between these two geographically and genetically close species and investigated the route of introduction of individuals to the islands outside of the Sunda Shelf. We analyzed full mitogenomes from 56 archival samples from the distribution areas of the two species and 18 microsatellite loci in a subset of 16 individuals to generate the phylogeographic patterns of both species. Bayesian inference with fossil calibration was used to estimate the age of each species and major divergence events. Our results indicated that the split between the two species took place during the Pleistocene, similar to 1.8Mya, possibly driven by adaptations of R. timorensis to the drier climate found on Java compared to the other islands of Sundaland. Although both markers identified two well-differentiated clades, there was a largely discrepant pattern between mitochondrial and nuclear markers. While nDNA separated the individuals into the two species, largely in agreement with their museum label, mtDNA revealed that all R. timorensis sampled to the east of the Sunda shelf carried haplotypes from R. unicolor and one Rusa unicolor from South Sumatra carried a R. timorensis haplotype. Our results show that hybridization occurred between these two sister species in Sundaland during the Late Pleistocene and resulted in human-mediated introduction of hybrid descendants in all islands outside Sundaland.
In this study we compared the phylogeographic patterns of two Rusa species, Rusa unicolor and Rusa timorensis, in order to understand what drove and maintained differentiation between these two geographically and genetically close species and investigated the route of introduction of individuals to the islands outside of the Sunda Shelf. We analyzed full mitogenomes from 56 archival samples from the distribution areas of the two species and 18 microsatellite loci in a subset of 16 individuals to generate the phylogeographic patterns of both species. Bayesian inference with fossil calibration was used to estimate the age of each species and major divergence events. Our results indicated that the split between the two species took place during the Pleistocene, similar to 1.8Mya, possibly driven by adaptations of R. timorensis to the drier climate found on Java compared to the other islands of Sundaland. Although both markers identified two well-differentiated clades, there was a largely discrepant pattern between mitochondrial and nuclear markers. While nDNA separated the individuals into the two species, largely in agreement with their museum label, mtDNA revealed that all R. timorensis sampled to the east of the Sunda shelf carried haplotypes from R. unicolor and one Rusa unicolor from South Sumatra carried a R. timorensis haplotype. Our results show that hybridization occurred between these two sister species in Sundaland during the Late Pleistocene and resulted in human-mediated introduction of hybrid descendants in all islands outside Sundaland.
Simple Summary Asian elephants (Elephas maximus) are considered endangered and their population is in continuous decline. Understanding their social interactions, health, and welfare status has been a topic of intense research in recent decades. Coagulation assessments have been underutilized in wildlife but can give valuable information on individual health. This study aims to increase the knowledge of the coagulation status in healthy Asian elephants from different backgrounds and age groups, using a fast point-of-care analyzer. This tool can be further used in either routine health check-ups performed by caretakers or in a clinical emergency, such as in cases of elephant endotheliotropic herpesvirus hemorrhagic disease outbreaks. We have also investigated the presence of genomic mutations in one coagulation factor-factor VII-where a disorder was previously reported in an Asian elephant. Hereby, we report new reference values for coagulation parameters, such as coagulation times and fibrinogen concentration of Asian elephants assessed in Thailand and in Europe, as well as several single point mutations found in the exons of Elephas maximus coagulation F7 gene. We found the point-of-care analyzer used in this study to be very practical and user friendly for a zoo and field environment and hope that this project will incentivize further coagulation studies in Asian elephants and in other wildlife species. The Asian elephant population is continuously declining due to several extrinsic reasons in their range countries, but also due to diseases in captive populations worldwide. One of these diseases, the elephant endotheliotropic herpesvirus (EEHV) hemorrhagic disease, is very impactful because it particularly affects Asian elephant calves. It is commonly fatal and presents as an acute and generalized hemorrhagic syndrome. Therefore, having reference values of coagulation parameters, and obtaining such values for diseased animals in a very short time, is of great importance. We analyzed prothrombin time (PT), activated partial thromboplastin time (aPTT), and fibrinogen concentrations using a portable and fast point-of-care analyzer (VetScan Pro) in 127 Asian elephants from Thai camps and European captive herds. We found significantly different PT and aPTT coagulation times between elephants from the two regions, as well as clear differences in fibrinogen concentration. Nevertheless, these alterations were not expected to have biological or clinical implications. We have also sequenced the coagulation factor VII gene of 141 animals to assess the presence of a previously reported hereditary coagulation disorder in Asian elephants and to investigate the presence of other mutations. We did not find the previously reported mutation in our study population. Instead, we discovered the presence of several new single nucleotide polymorphisms, two of them being considered as deleterious by effect prediction software.
PaRDeS. Zeitschrift der Vereinigung für Jüdische Studien e.V., möchte die fruchtbare und facettenreiche Kultur des Judentums sowie seine Berührungspunkte zur Umwelt in den unterschiedlichen Bereichen dokumentieren. Daneben dient die Zeitschrift als Forum zur Positionierung der Fächer Jüdische Studien und Judaistik innerhalb des wissenschaftlichen Diskurses sowie zur Diskussion ihrer historischen und gesellschaftlichen Verantwortung.