Uppsala University

About: Uppsala University is a education organization based out in Uppsala, Sweden. It is known for research contribution in the topics: Population & Insulin. The organization has 36485 authors who have published 107509 publications receiving 4220668 citations. The organization is also known as: Uppsala universitet & uu.se.

Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus

Abstract: Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies and complex genetic inheritance. In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. We replicated the association in four independent case-control sets (combined P = 3.7 x 10(-10); OR = 1.38). We analyzed BANK1 cDNA and found two isoforms, one full-length and the other alternatively spliced and lacking exon 2 (Delta2), encoding a protein without a putative IP3R-binding domain. The transcripts were differentially expressed depending on a branch point-site SNP, rs17266594, in strong linkage disequilibrium (LD) with rs10516487. A third associated variant was found in the ankyrin domain (rs3733197, A383T). Our findings implicate BANK1 as a susceptibility gene for SLE, with variants affecting regulatory sites and key functional domains. The disease-associated variants could contribute to sustained B cell-receptor signaling and B-cell hyperactivity characteristic of this disease.

Twenty-three unsolved problems in hydrology (UPH)–a community perspective

Abstract: This paper is the outcome of a community initiative to identify major unsolved scientific problems in hydrology motivated by a need for stronger harmonisation of research efforts. The procedure involved a public consultation through online media, followed by two workshops through which a large number of potential science questions were collated, prioritised, and synthesised. In spite of the diversity of the participants (230 scientists in total), the process revealed much about community priorities and the state of our science: a preference for continuity in research questions rather than radical departures or redirections from past and current work. Questions remain focused on the process-based understanding of hydrological variability and causality at all space and time scales. Increased attention to environmental change drives a new emphasis on understanding how change propagates across interfaces within the hydrological system and across disciplinary boundaries. In particular, the expansion of the human footprint raises a new set of questions related to human interactions with nature and water cycle feedbacks in the context of complex water management problems. We hope that this reflection and synthesis of the 23 unsolved problems in hydrology will help guide research efforts for some years to come.

Antagonistic coevolution between the sexes in a group of insects

Abstract: In coevolutionary 'arms races' between the sexes, the outcome of antagonistic interactions may remain at an evolutionary standstill. The advantage gained by one sex, with any evolutionary exaggeration of arms, is expected to be matched by analogous counteradaptations in the other sex. This fundamental coevolutionary process may thus be hidden from the evolutionist's eye, and no natural examples are known. We have studied the effects of male and female armament (clasping and anti-clasping morphologies) on the outcome of antagonistic mating interactions in 15 species of water strider, using a combination of experimental and phylogenetic comparative methods. Here we present, by assessing the independent effects of both species-specific level of arms escalation and small imbalances in the amounts of arms between the sexes within species, the consequences of a sexual arms race. Evolutionary change in the balance of armament between males and females, but not in the species-specific level of escalation, has resulted in evolutionary change in the outcome of sexually antagonistic interactions such as mating rate.