Graph-based inductive reasoning

This article discusses methods of inductive inferences that are methods of visualizations designed in such a way that the “eye” can be employed as a reliable tool for judgment. The term “eye” is used as a stand-in for visual cognition and perceptual processing. In this paper “meaningfulness” has a particular meaning, namely accuracy, which is closeness to truth. Accuracy consists of precision and unbiasedness. Precision is dealt with by statistical methods, but for unbiasedness one needs expert judgment. The common view at the beginning of the twentieth century was to make the most efficient use of this kind of judgment by representing the data in shapes and forms in such a way that the “eye” can function as a reliable judge to reduce bias. The need for judgment of the “eye” is even more necessary when the background conditions of the observations are heterogeneous. Statistical procedures require a certain minimal level of homogeneity, but the “eye” does not. The “eye” is an adequate tool for assessing topological similarities when, due to heterogeneity of the data, metric assessment is not possible. In fact, graphical assessments precedes measurement, or to put it more forcefully, the graphic method is a necessary prerequisite for measurement.     

Climate change and population declines in a long-distance migratory bird

Phenological responses to climate change differ across trophic levels, which may lead to birds failing to breed at the time of maximal food abundance. Here we investigate the population consequences of such mistiming in the migratory pied flycatcher, Ficedula hypoleuca. In a comparison of nine Dutch populations, we find that populations have declined by about 90% over the past two decades in areas where the food for provisioning nestlings peaks early in the season and the birds are currently mistimed. In areas with a late food peak, early-breeding birds still breed at the right time, and there is, at most, a weak population decline. If food phenology advances further, we also predict population declines in areas with a late food peak, as in these areas adjustment to an advanced food peak is insufficient. Mistiming as a result of climate change is probably a widespread phenomenon, and here we provide evidence that it can lead to population declines.     

Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype

Tetraodon nigroviridis is a freshwater puffer fish with the smallest known vertebrate genome. Here, we report a draft genome sequence with long-range linkage and substantial anchoring to the 21 Tetraodon chromosomes. Genome analysis provides a greatly improved fish gene catalogue, including identifying key genes previously thought to be absent in fish. Comparison with other vertebrates and a urochordate indicates that fish proteins have diverged markedly faster than their mammalian homologues. Comparison with the human genome suggests approximately 900 previously unannotated human genes. Analysis of the Tetraodon and human genomes shows that whole-genome duplication occurred in the teleost fish lineage, subsequent to its divergence from mammals. The analysis also makes it possible to infer the basic structure of the ancestral bony vertebrate genome, which was composed of 12 chromosomes, and to reconstruct much of the evolutionary history of ancient and recent chromosome rearrangements leading to the modern human karyotype.     

Breeding in the gray-headed tody-flycatcher (Aves: Tyrannidae) with comments on geographical variation in reproductive traits within the genus Todirostrum

The gray-headed tody-flycatcher Todirostrum poliocephalum is a passerine endemic to the Atlantic Forest of Brazil. We describe the nest and nesting behaviour of this species and investigate geographical variation in breeding traits in the genus using data from the literature, museum collections, and citizen science projects. We located 21 nests of the gray-headed tody-flycatcher, 13 of which we monitored. Nest height above the ground averaged 3.3 ± 3.4 m (n = 21). Nests were built over a 16.8 ± 5.6-day period (n = 6) by both adults. Clutch sizes ranged from two to three eggs, with a mean of 2.9 ± 0.3 eggs (n = 10). Eggs measured 16.6 ± 0.5 × 12.0 ± 0.5 mm (n = 23) and weighed 1.1 ± 0.1 g (n = 19). Mean incubation period was 17 days (n = 3) and mean nestling period was 15.5 days (n = 2). Apparent reproductive success was 30.8%, with predation being the primary cause of nest failure (46.1%). Mayfield’s reproductive success was 25.9%, and daily survival rates for eggs and nestlings were 0.957 and 0.971, respectively. Clutch sizes increased with latitude, but temperature and precipitation seasonality had very low importance in explaining clutch size variation.     

Generation time and temporal scaling of bird population dynamics

Theoretical studies have shown that variation in density regulation strongly influences population dynamics, yet our understanding of factors influencing the strength of density dependence in natural populations still is limited. Consequently, few general hypotheses have been advanced to explain the large differences between species in the magnitude of population fluctuations. One reason for this is that the detection of density regulation in population time series is complicated by time lags induced by the life history of species that make it difficult to separate the relative contributions of intrinsic and extrinsic factors to the population dynamics. Here we use population time series for 23 bird species to estimate parameters of a stochastic density-dependent age-structured model. We show that both the strength of total density dependence in the life history and the magnitude of environmental stochasticity, including transient fluctuations in age structure, increase with generation time. These results indicate that the relationships between demographic and life-history traits in birds translate into distinct population dynamical patterns that are apparent only on a scale of generations.     

Function and use of technical artefacts: social conditions of function ascription

It is argued that we cannot understand the notion of proper functions of artefacts independently of social notions. Functions of artefacts are related to social facts via the use of artefacts. The arguments in this article can be used to improve existing function theories that look to the causal history of artefacts to determine the function. A view that takes the intentions of designers into account to determine the proper function is both natural and often correct, but it is shown that there are exceptions to this. Taking a social constitutive element into account may amend these backwards looking theories. An improved theory may either have a disjunctive form—either the history or collective intentions determine the proper function—or, as is suggested in the article, be in the form of an encompassing account that views the designers’ intentions as social, in so far as they are accepted by the users. Designers have authority, which is a social fact. The views argued for here are applied to two existing theories of artefact functions, a causal historic approach and an action theoretic approach.     

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Hypertension affects one billion people and is a principal reversible risk factor for cardiovascular disease. Pseudohypoaldosteronism type II (PHAII), a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis, has revealed previously unrecognized physiology orchestrating the balance between renal salt reabsorption and K(+) and H(+) excretion. Here we used exome sequencing to identify mutations in kelch-like 3 (KLHL3) or cullin 3 (CUL3) in PHAII patients from 41 unrelated families. KLHL3 mutations are either recessive or dominant, whereas CUL3 mutations are dominant and predominantly de novo. CUL3 and BTB-domain-containing kelch proteins such as KLHL3 are components of cullin-RING E3 ligase complexes that ubiquitinate substrates bound to kelch propeller domains. Dominant KLHL3 mutations are clustered in short segments within the kelch propeller and BTB domains implicated in substrate and cullin binding, respectively. Diverse CUL3 mutations all result in skipping of exon 9, producing an in-frame deletion. Because dominant KLHL3 and CUL3 mutations both phenocopy recessive loss-of-function KLHL3 mutations, they may abrogate ubiquitination of KLHL3 substrates. Disease features are reversed by thiazide diuretics, which inhibit the Na-Cl cotransporter in the distal nephron of the kidney; KLHL3 and CUL3 are expressed in this location, suggesting a mechanistic link between KLHL3 and CUL3 mutations, increased Na-Cl reabsorption, and disease pathogenesis. These findings demonstrate the utility of exome sequencing in disease gene identification despite the combined complexities of locus heterogeneity, mixed models of transmission and frequent de novo mutation, and establish a fundamental role for KLHL3 and CUL3 in blood pressure, K(+) and pH homeostasis.     

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.