Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Protein-protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital amaurosis, Senior-L?ken syndrome (SLSN) or Joubert syndrome (JBTS). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1-like protein (RPGRIP1L) is a homolog of RPGRIP1 (RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis. We show that RPGRIP1L interacts with nephrocystin-4 and that mutations in the gene encoding nephrocystin-4 (NPHP4) that are known to cause SLSN disrupt this interaction. RPGRIP1L is ubiquitously expressed, and its protein product localizes to basal bodies. Therefore, we analyzed RPGRIP1L as a candidate gene for JBTS and identified loss-of-function mutations in three families with typical JBTS, including the characteristic mid-hindbrain malformation. This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder.     

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.     

Terrestrial isopods and myriapods in a forested scree slope: subterranean biodiversity,depth gradient and annual dynamics

Diversity, depth distribution and seasonal activity of isopods and myriapods were studied using subterranean traps buried in a forested limestone scree slope in the ?ierna Hora Mts, Western Carpathians, Slovakia, throughout the depth gradient from 5 to 95 cm. A total of five isopod, 13 diplopod and 11 chilopod species were identified. Most edaphic species strongly preferred the uppermost organic soil layers. Among the species captured, some represented rare stenoecous Carpathian endemics, namely the isopod Trichoniscus carpaticus, and diplopods Julus curvicornis and Leptoiulus mariae. Others were subterranean forms, partly adapted to hypogean conditions: the isopod Mesoniscus graniger, and diplopods Mecogonopodium carpathicum and Trachysphaera costata. The annual activity in the vast majority of the species ceased completely in winter, and was gradually relaunched in spring. In evaluating the age structure of two predominant diplopods Polydesmus denticulatus and Mecogonopodium carpathicum, both widespread across the depth gradient, a vertical segregation of early post-embryonic stages was found. While P. denticulatus tended to undergo the early stages of development in the soil-filled topmost levels, the early juvenile stage of M. carpathicum was distributed deep in the scree slope profile.     

Nest architecture in polydomous grass-cutting ants (Acromyrmex balzani)

Acromyrmex balzani is a grass-cutting ant species frequently found in Cerrado areas. However, little is known about the architecture of the polydomous nests of this ant. Fifteen A. balzani nests located in a cerrado region in Botucatu, São Paulo, Brazil, were studied. The polydomous nests were studied in three ways. First, we investigated the architecture in nests moulded with cement and without moulding. Second, we performed an aggressiveness test among workers in different subnests and nests. Third, we excavated the nest and collected the colony to measure the population, verifying the existence or not of a queen in all nests. A cement mould was made of seven nests to permit better visualization of internal structures such as chambers and tunnels. Eight nests were excavated without moulding and white neutral talc was used to highlight the parts of the nests. After excavation, the depth and dimensions (length, width and height) of the chambers were measured. The results showed that the nests had a single entrance hole whose structure consisted of straw and other plant residues in winter. Mounds of loose soil, if present, were found 6–48 cm from the hole. The number of chambers containing fungus ranged from one to five, with the first being found a few centimetres beneath the ground surface (4 cm) and the last up to a maximum depth of 160 cm. The length of the tunnels ranged from 12 to 28 cm. These tunnels were built in a vertical or inclined position, leading to the chambers. No waste chambers were found, with the waste being deposited externally. Additionally, the polydomous nests contained one to eight subnests. In the aggressiveness test, when concolonial workers were confronted, no aggressiveness was observed. In contrast, when allocolonial workers were confronted, there was a high incidence of aggression among them. Excavation of polydomous nests showed only one queen for each polydomous nest, i.e. subnests with a single queen. Our study contributes to a better understanding of the so far unknown nest architecture of the polydomous grass-cutting ant A. balzani.     

Coral reef tanaidacean assemblages along the SW and SE Gulf of Mexico: biodiversity,geographic distribution and community structure

The biodiversity, geographic distribution, and community parameters of the benthic tanaidaceans associated with three coral reefs along the SW and SE Gulf of Mexico were analysed. A total of 15,525 specimens were grouped in 36 species. The highest value of abundance was found in the PNSAV with 6382 tanaidaceans. The PNSAV presented 30 species, the ANPT-L 16 species, and the SABS 17 species. The species with the widest distribution were Pseudonototanais sp., Condrochelia dubia, Leptochelia forresti, Synapseudes sp., Haplopolemius propinquus, Alloleptochelia longimana, and Paradoxapseudes bermudeus. In the Veracruz System Reef, the highest abundance was recorded for Condrochelia dubia and Pseudonototanais sp. The highest value of diversity was obtained in the SABS (3.08 bits/ind in the reef Bajo Diez), and the lowest value was found in the PNSAV (0.07 bits/ind in the reef Isla de Enmedio). The highest value of abundance was found in coral rubble and macroalgae. A significant relationship between depth and specific richness was found in the three reef systems. Using cluster analysis, three groups were found in each system, mainly related to the proximity to the coast and to urban areas. This is one of the first studies to show the specific substrate and attributes of three communities of tanaidaceans along the SE–SW coast of the Gulf of Mexico.     

The carcinofauna found in stomach contents of the flying gurnard (Dactylopterus volitans) on the continental shelf of the Campos Basin,Brazil

A total of 3109 crustaceans belonging to 50 taxa distributed in 42 families were found in 117 analysed stomachs of flying gurnard (Dactylopterus volitans). Samples were obtained in April 2008 by the R/V Gyre using a bottom trawl towed in 12 stations at 14–100 m depth on the continental shelf of the Campos Basin, Brazil. The carcinofauna was analysed and the order Calanoida (Copepoda) found to be the most important item in terms of relative abundance and frequency of occurrence, followed by the order Amphipoda (Peracarida), the infraorder Brachyura (Decapoda), the order Stomatopoda and the subclass Myodocopa (Ostracoda). In the order Calanoida, the species Pontellopsis cf. villosa (Pontellidae) represented 98.04% of total crustacean abundance. The diet of Dactylopterus volitans varied according to fish size, with higher diversity of Crustacea at smaller size classes, decreasing in larger fishes. A similar pattern regarding depth was obtained, with greater diversity of taxa in gurnard stomachs caught at shallower depths. Flying gurnard is considered a generalized carnivore of invertebrates, eating mobile macrobenthic organisms, such as crustaceans, and its diet varies with its life stage, without any specific group as its main food source.     

Feeding ecology of the common sun skink,Eutropis multifasciata (Reptilia: Squamata: Scincidae), in the plains of central Vietnam

We studied the feeding ecology of Eutropis multifasciata in the tropical plains of central Vietnam to understand better the foraging mode, spatiotemporal and sexual variation in dietary composition, and rarefaction curves of prey-taxon richness for males and females. Stomach contents (n = 161) were collected from October 2013 to May 2014 using a nonlethal stomach-flushing technique. A total of 680 food items (624 animal items and 56 plant items) was found in 161 stomachs of skinks, representing 19 unique animal categories. We found that the diet of E. multifasciata is composed mainly of small, sedentary and clumped prey and that this skink specialises on spiders, insect larvae, snails, grasshoppers and crickets (with a combined importance index of 60%). Dietary composition, prey size and total prey volume in E. multifasciata changed between dry and rainy seasons and among regions. The total volume of food items consumed by males was larger than that of females, and the diversity and evenness index of prey categories were larger in males than in females. However, using rarefaction curves revealed that females have the higher prey-taxon richness after points between 130 and 140 prey items for frequency, and between 160 and 170 prey items for number of items, and the differences were not statistically significant. The foraging behaviour of E. multifasciata best fits a ‘widely foraging’ model.