A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet–Biedl syndrome in a Pakistani family

Bardet–Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, polydactyly, hypogonadism, learning difficulties, rod-cone dystrophy and renal dysplasia. Bardet–Biedl Syndrome has a prevalence rate ranging from 1 in 100,000 to 1 in 160,000 births although there are communities where Bardet–Biedl Syndrome is found at a higher frequency due to consanguinity. We report here a Pakistani consanguineous family with two affected sons with typical clinical features of Bardet–Biedl Syndrome, in addition to abnormal liver functioning and bilateral basal ganglia calcification, the latter feature being typical of Fahr's disease. Homozygous regions obtained from SNP array depicted three known genes BBS10, BBS14 and BBS2. Bidirectional sequencing of all coding exons by traditional sequencing of all these three genes showed a homozygous deletion of 10 nucleotides (c.1958_1967del), in BBS10 in both affected brothers. The segregation analysis revealed that the parents, paternal grandfather, maternal grandmother and an unaffected sister were heterozygous for the deletion. Such a large deletion in BBS10 has not been reported previously in any population and is likely to be contributing to the phenotype of Bardet–Biedl Syndrome in this family.     

Impact of climatic variation on populations of pine processionary moth Thaumetopoea pityocampa in a core area of its distribution

• 1 There is growing appreciation of climatic effects on insect population dynamics at the margins of distribution limits. Climatic effects might be less important and/or involve different drivers and processes near the centre of distributions.
• 2 We evaluated the effects of interannual variation in temperatures, radiation and precipitation on populations of pine processionary moth Thaumetopoea pityocampa in Central–South Portugal, a low altitude area with a relatively mild Mediterranean climate near the centre of the north–south range of the species.
• 3 We tested for effects of climate on mortality of young larvae, growth rates, final larval mass and fecundity.
• 4 Results indicated high mortality of early instars associated with low minimum and maximum daily temperatures and low precipitation. Low minimum temperatures were further associated with high parasitism by the larval parasitoid Phryxe caudata (Rondani) (Diptera, Tachinidae). Furthermore, larval growth rates were higher with high solar radiation during December and January, which was itself negatively related to precipitation and air temperature. Slow larval growth rates led to lower final mass at pupation in the spring, and smaller egg masses and smaller initial colony sizes during the next autumn.
• 5 Thus climatic factors, and temperature in particular, apparently contributed to population dynamics of T. pityocampa in the core of its distribution, as well as at its northern limits. The most specific climatic parameters of importance, however, and the connections between climate, physiology and insect demographics in the core area were clearly different from northern areas.

     

Dietary variations of predaceous caddisfly larvae (Trichoptera: Rhyacophilidae,Polycentropodidae and Arctopsychidae) from British Columbian streams

The diets of larval Rhyacophilidae (Rhyacophila inculta), Polycentropodidae (Polycentropus variegatus) and Arctopsychidae (Parapsyche almota and P. elsis) from five streams in the University of British Columbia Research Forest, British Columbia (Canada), are recorded and related to feeding mode/constructional activities and prey representation in the habitat. Particular attention was paid to the extent of dietary overlap and the degree of intraspecific dietary variations between streams. An overall similarity of the diets of the study species was notable and all commonly consumed chironomid (Diptera) larvae, Simulium (Diptera) and Zapada (Plecoptera), although there was interspecific variation in the relative importance of these items. Polycentropus variegatus and Parapsyche spp. ate Baetis and Paraleptophlebia, the latter predators also consuming Hydrachnellae (Acarina). Other prey were generally of minor importance and consequently interspecific dietary overlaps were high. Differences in the range of prey consumed by predaceous Trichoptera were apparent. Free-foraging R. inculta which selectively consumed sedentary simuliid larvae had the narrowest niche breadth. Parapsyche spp. and Polycentropus variegatus foreguts generally contained an over-representation of chironomid larvae compared to their proportionate occurrence in the benthos, and these caddisflies exhibited high niche overlap. The relative importance of chironomids as food for Parapsyche spp. and Polycentropus variegatus is attributed to prey behaviour, i.e. drift, and poorly developed escape responses when they are caught on the predator's net.     

Craniometric variation of some Mediterranean and Atlantic populations of Stenella coeruleoalba (Mammalia,Delphinidae): A three‐dimensional geometric morphometric analysis

The variability of cranial features of Atlantic and Mediterranean samples of Stenella coeruleoalba was examined using a three‐dimensional geometric morphometric approach. Data were collected on 79 skulls from the upper and middle Mediterranean Sea, the Atlantic French coasts, and Scotland. Three‐dimensional x, y, and z coordinates of 27 landmarks were recorded on each left half skull using a Microscribe 3‐D digitizer. All configurations were rotated, centered, and scaled, and residuals from the mean configuration were analyzed through multivariate analyses of variance. Mahalanobis distances among populations were used to evaluate phenetic relationships. Consensus configurations were compared to visualize shape differences among samples. Analyses revealed significant differences among populations, a clear distinction of the Scottish coasts dolphins from the other samples, and a closer relationship of the dolphins from the French coasts to the Mediterranean populations than to the Scottish one. Shape differences are mainly concentrated in the rostral and in the occipital regions of the skull. Phylogenetic and adaptive factors were invoked as possible causes of the variation patterns.     

On the coevolution of social responsiveness and behavioural consistency

Recent research focuses on animal personalities, that is individual differences in behaviour that are consistent across contexts and over time. From an adaptive perspective, such limited behavioural plasticity is surprising, since a more flexible structure of behaviour should provide a selective advantage. Here, we argue that consistency can be advantageous because it makes individuals predictable. Predictability, however, can only be advantageous if at least some individuals in the population respond to individual differences. Consequently, the evolution of consistency and responsiveness are mutually dependent. We present a general analysis of this coevolutionary feedback for scenarios that can be represented as matrix games with two pure strategies (e.g. hawk-dove game, snowdrift game). We first show that responsive strategies are favoured whenever some individual differences are present in the population (e.g. due to mutation and drift). We then show that the presence of responsive individuals can trigger a coevolutionary process between responsiveness and consistency that gives rise to populations in which responsive individuals coexist with unresponsive individuals who show high levels of adaptive consistency in their behaviour. Next to providing an adaptive explanation for consistency, our results also link two key features associated with personalities, individual differences in responsiveness and behavioural consistency.     

Modeling relapse in infectious diseases

An integro-differential equation is proposed to model a general relapse phenomenon in infectious diseases including herpes. The basic reproduction number R(0) for the model is identified and the threshold property of R(0) established. For the case of a constant relapse period (giving a delay differential equation), this is achieved by conducting a linear stability analysis of the model, and employing the Lyapunov-Razumikhin technique and monotone dynamical systems theory for global results. Numerical simulations, with parameters relevant for herpes, are presented to complement the theoretical results, and no evidence of sustained oscillatory solutions is found.     

Site Variation in Spatial Aggregation and Phorophyte Preference in Psychilis monensis (Orchidaceae)

Aggregation patterns of plants vary according to spatial scale and developmental stage, and are dependent on vegetation dynamics and species composition. We describe the aggregation patterns of the epiphytic orchid Psychilis monensis from two sites with different vegetation structure and composition on Mona Island, Puerto Rico. We analyzed spatial variation for seedlings, juveniles, and adults using the density-independent, standardized Morisita index (I_MS). We censused a total of 879 plants. Strong preferences for some phorophyte species were evident, including dead trees, but association with bark roughness was equivocal. The highest densities occurred in the site with the lowest fruit and seed production, suggesting that the best sites for pollination and seedling establishment were not the same. Seedlings at one site were significantly aggregated, but all other stages were indistinguishable from a random distribution. Nevertheless, adults at both sites had the lowest I_MS values indicating that they tend to be the least aggregated of the three life history stages. The abundance and age structure of P. monensis were clearly affected by the frequency of their preferred hosts, but site-specific factors affecting seedling survival probably play a major role in site differences.