Ancestral origins of the prion protein gene D178N mutation in the Basque Country

Fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD) are familial prion diseases with autosomal dominant inheritance of the D178N mutation. FFI has been reported in at least 27 pedigrees around the world. Twelve apparently unrelated FFI and fCJD pedigrees with the characteristic D178N mutation have been reported in the Prion Diseases Registry of the Basque Country since 1993. The high incidence of familial prion diseases in this region may reflect a unique ancestral origin of the chromosome carrying this mutation. In order to investigate this putative founder effect, we developed happy typing, a new approach to the happy mapping method, which consists of the physical isolation of large haploid genomic DNA fragments and their analysis by the Polymerase Chain Reaction in order to perform haplotypic analysis instead of pedigree analysis. Six novel microsatellite markers, located in a 150-kb genomic segment flanking the PRNP gene were characterized for typing haploid DNA fragments of 285 kb in size. A common haplotype was found in patients from the Basque region, strongly suggesting a founder effect. We propose that happy typing constitutes an efficient method for determining disease-associated haplotypes, since the analysis of a single affected individual per pedigree should provide sufficient evidence.     

Balancing of B6 Vitamers Is Essential for Plant Development and Metabolism in Arabidopsis

Vitamin B₆ comprises a family of compounds that is essential for all organisms, most notable among which is the cofactor pyridoxal 5′-phosphate (PLP). Other forms of vitamin B₆ include pyridoxamine 5′-phosphate (PMP), pyridoxine 5′-phosphate (PNP), and the corresponding nonphosphorylated derivatives. While plants can biosynthesize PLP de novo, they also have salvage pathways that serve to interconvert the different vitamers. The selective contribution of these various pathways to cellular vitamin B₆ homeostasis in plants is not fully understood. Although biosynthesis de novo has been extensively characterized, the salvage pathways have received comparatively little attention in plants. Here, we show that the PMP/PNP oxidase PDX3 is essential for balancing B₆ vitamer levels in Arabidopsis thaliana. In the absence of PDX3, growth and development are impaired and the metabolite profile is altered. Surprisingly, RNA sequencing reveals strong induction of stress-related genes in pdx3, particularly those associated with biotic stress that coincides with an increase in salicylic acid levels. Intriguingly, exogenous ammonium rescues the growth and developmental phenotype in line with a severe reduction in nitrate reductase activity that may be due to the overaccumulation of PMP in pdx3. Our analyses demonstrate an important link between vitamin B₆ homeostasis and nitrogen metabolism.     

Studying exotics in their native range: Can introduced fouling amphipods expand beyond artificial habitats?

Knowledge of the habitat use patterns of introduced species in their native or naturalized range can provide unique insights into processes of secondary dispersal and colonization of natural habitats. Caprellid amphipods are small mobile marine epibionts with limited natural dispersal. The global distribution of some caprellid species is mostly the result of anthropogenic transport; however, their subsequent spread beyond artificial habitats is poorly understood. A biogeographic approach, mainly focused on the native-range ecology of introduced and common fouling caprellid amphipods of southern Europe, was used to understand the implications of habitat use patterns for predicting their spread in the introduced regions. Specifically, abundance and composition of caprellid populations were compared among different primary habitats including artificial (floating pontoons), sheltered and wave-exposed rocky shores along the southern and southeastern coasts of Brazil. The findings indicated that artificial habitats act as reservoirs for globally distributed species in both their native and introduced ranges, while endemic species are more scarcely represented. Environmental conditions provided by primary habitats appear important in structuring caprellid assemblages on secondary substrata (basibiont species). Most wide-ranging caprellids were negatively correlated with the level of wave exposure, being more abundant in sheltered (artificial or natural) than in exposed habitats. In this context, Caprella scaura and Paracaprella pusilla, the two introduced caprellids recorded in the Mediterranean, where they are virtually restricted to artificial habitats, may become established in sheltered and even highly polluted natural habitats but hardly colonize wave-exposed rocky shores.     

Inability of Escherichia coli to resuscitate from the viable but nonculturable state

After induction of the viable but nonculturable (VBNC) state in Escherichia coli populations, we analysed abiotic and biotic factors suggested to promote the resuscitation process. The response to the stressing conditions implied the formation of three subpopulations, culturable, VBNC and nonviable. In most adverse situations studied, the VBNC subpopulation did not represent the dominant fraction, decreasing with time. This suggests that, in most cases, the VBNC is not a successful phenotype. Combining methods of dilution and inhibition of remaining culturable cells, we designed a working protocol in order to distinguish unequivocally between regrowth and resuscitation. Reversion of abiotic factors inducing nonculturability as well as prevention of additional oxidative stress did not provoke resuscitation. Participation of biotic factors was studied by addition of supernatants from different origin without positive results. These results indicate that the E. coli strain used is not able to resuscitate from the VBNC state. VBNC cells release into the surrounding medium, and could thus aid in the survival of persisting culturable cells. The formation of a VBNC subpopulation could thus be considered as an adaptive process, designed for the benefit of the population as a whole.     

Water abstraction impacts stream ecosystem functioning via wetted‐channel contraction

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