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Two boxer dogs from the same litter were presented at 3 months of age for urinary and fecal incontinence. Both dogs had an abnormal tail consisting of a small stump, an atonic anal sphincter, and absent perineal reflex and sensation. Neurological evaluation was indicative of a lesion of the cauda equina or sacral spinal cord. Radiology and CT scan of the spine displayed similar findings in the two dogs that were indicative of sacral agenesis. Indeed, they had 6 lumbar vertebrae followed by a lumbosacral transitional vertebra, lacking a complete spinous process, and a hypoplastic vertebra carrying 2 hypoplastic sacral transverse processes as the only remnant of the sacral bone. Caudal vertebrae were absent in one of the dogs. On MRI, one dog had a dural sac occupying the entire spinal canal and ending in a subfascial fat structure. In the other dog, the dural sac finished in an extracanalar, subfascial, well-defined cystic structure, communicating with the subarachnoid space, and consistent with a meningocele. Sacral agenesis—that is the partial or complete absence of the sacral bones—is a neural tube defect occasionally reported in humans with spina bifida occulta. Sacral agenesis has been described in human and veterinary medicine in association with conditions such as caudal regression syndrome, perosomus elumbis, and Currarino syndrome. These neural tube defects are caused by genetic and/or environmental factors. Despite thorough genetic investigation, no candidate variants in genes with known functional impact on bone development or sacral development could be found in the affected dogs. To the best of the authors' knowledge, this is the first report describing similar sacral agenesis in two related boxer dogs.

Sweet basil (Ocimum basilicum L.) is one of the most produced aromatic herbs in the world, exploiting hydroponic systems. It has been widely assessed that macronutrients, like nitrogen (N) and sulfur (S), can strongly affect the organoleptic qualities of agricultural products, thus influencing their nutraceutical value. In addition, plant-growth-promoting rhizobacteria (PGPR) have been shown to affect plant growth and quality. Azospirillum brasilense is a PGPR able to colonize the root system of different crops, promoting their growth and development and influencing the acquisition of mineral nutrients. On the bases of these observations, we aimed at investigating the impact of both mineral nutrients supply and rhizobacteria inoculation on the nutraceutical value on two different sweet basil varieties, i.e., Genovese and Red Rubin. To these objectives, basil plants have been grown in hydroponics, with nutrient solutions fortified for the concentration of either S or N, supplied as SO4 2− or NO3 −, respectively. In addition, plants were either non-inoculated or inoculated with A. brasilense. At harvest, basil plants were assessed for the yield and the nutraceutical properties of the edible parts. The cultivation of basil plants in the fortified nutrient solutions showed a general increasing trend in the accumulation of the fresh biomass, albeit the inoculation with A. brasilense did not further promote the growth. The metabolomic analyses disclosed a strong effect of treatments on the differential accumulation of metabolites in basil leaves, producing the modulation of more than 400 compounds belonging to the secondary metabolism, as phenylpropanoids, isoprenoids, alkaloids, several flavonoids, and terpenoids. The primary metabolism that resulted was also influenced by the treatments showing changes in the fatty acid, carbohydrates, and amino acids metabolism. The amino acidanalysis revealed that the treatments induced an increase in arginine (Arg) content in the leaves, which has been shown to have beneficial effects on human health. In conclusion, between the two cultivars studied, Red Rubin displayed the most positive effect in terms of nutritional value, which was further enhanced following A. brasilense inoculation.

La regione mediterranea è una delle aree climatiche maggiormente colpite dalle crescenti ondate di caldo e siccità causate dal cambiamento climatico globale, con gravi ripercussioni sulla produzione agricola e quindi sulla sicurezza alimentare. Il frumento duro (Triticum turgidum L. var. durum) è coltivato principalmente nel bacino Mediterraneo, tradizionalmente senza l’ausilio d’irrigazione artificiale. Nonostante la naturale capacità di questa coltura di resistere a diversi stress ambientali, essa è attualmente minacciata dall’aggravarsi dei cambiamenti climatici. In particolare lo stress idrico da siccità che le colture subiscono in mancanza di acqua, è uno dei fattori ambientali di maggior impatto sulla crescita e le rese produttive finali per il frumento duro. L’identificazione di genotipi con una maggior adattabilità allo stress da siccità è quindi un obiettivo primario sia per i ricercatori sia per i breeder che lavorano nel campo del miglioramento genetico del frumento. In questa ricerca, ci siamo focalizzati su geni noti per essere coinvolti nella risposta allo stress idrico in altre specie cerealicole, i quali sono stati quindi caratterizzati in fumento duro sia a livello genomico che trascrizionale. Sono stati isolati entrambe le copie omeologhe (A e B) di due geni: 1) TdBCAT, un’aminotransferasi degli amino acidi a catena ramificata con putativa funzione plastidica; 2) TdABA7, codificante per una proteina a basso peso molecolare (18kDa), la cui funzione molecolare e biologica è tuttora ignota. L’analisi di espressione in condizioni di stress idrico ha rivelato un chiaro coinvolgimento di TdBCAT durante l’antesi e i primi eventi di post-antesi, mentre per TdABA7, l’espressione in risposta allo stress sembra essere più relazionata alla fase di germinazione. Inoltre entrambi i geni presentano un’espressione tessuto e omeologo specifica. Per capire meglio il ruolo di TdBCAT e TdABA7 nella risposta allo stress idrico da siccità, abbiamo seguito un approccio di genetica inversa, sfruttanto uno strumento bioinformatico chiamato in silico wheat TILLING (www.wheat-tilling.com) grazie al quale è stato possibile generare 11 linee doppio mutanti per TdBCAT e 15 linee doppio mutanti per TdABA7. In parallelo, in linea con il paradigma di “climate smart agriculture” suggerito dalla FAO di sfruttare la variabilità naturale presente nelle risorse genetiche di frumento duro, un approccio di allele mining ha permesso di identificare la presenza di varianti alleliche nei geni selezionati analizzando una collezione di germoplasma di frumento rappresentativa delle colture di frumento del bacino mediterraneo. E’ stato quindi definito un metodo innovativo ma soprattutto economico, che sfrutta l’unione di diverse tecniche (sequenziamento di zone target mediante NGS e tecnologia KASP) per scoprire varianti alleliche naturali nei geni in esame. In particolare, quest’ approccio ha permesso di identificare 21 SNP nei promotori di TdBCAT nel set di genotipi di frumento duro analizzati. Quest’analisi ha quindi portato all’identificazione di 5 aplotipi per ognuno delle due copie omeoologhe del gene TdBCAT, alcuni dei quali rappresentati in un singolo 8 genotipo. Per correlare il genotipo al fenotipo, lo stesso set di genotipi è stato analizzato in condizioni di stress idrico attraverso una piattaforma di fenotipizzazione high-throughput. I due indici fenotipi considerati (digital biovolume e dry index), ha permesso l’identificazione di 5 genotipi come altamente resistenti allo stress da siccità e quindi a identificarli come ottimi candidati per futuri programmi di breeding. Mediterranean area is one of the main region affected by the increasing drought and heat-wave expected by the impact of global climate change (GCC), with strong drawbacks on agricultural productions and thus on food security. Durum wheat (Triticum turgidum L. var. durum) is a rain-fed crop mainly cultivated in the Mediterranean basin, which despite being able to survive various environmental stresses, it is threatened by the impending GCC. In particular drought stress (DS) is one of the major constraints that can negatively affect crops growth and yield. Identifying genotypes with higher adaptability to DS is thus a primary goal for researchers and breeders. In this research, we studied genes known to be involved in DS response in other crop species, and characterised them in T. durum at genomic and expression level. We isolated the A and B homoeologs of two genes: i) TdBCAT, a putative chloroplast branched-chain aminotransferase (BCAT); ii) TdABA7 coding for an 18 kDa protein which has still an unknown function. The expression analyses following the DS revealed a clear involvement of TdBCAT during the anthesis and post-anthesis events, while for TdABA7 a major response was related to the germination stage. Moreover, both sequences had a tissuespecific and homoeologs-specific expression. To elucidate the involvement of TdBCAT and TdABA7 in DS response, a reverse genetic strategy was followed taking advantage of the wheat TILLING resources (www.wheat-tilling.com) which lead to the generation of 11 and 15 double mutant lines for TdBCAT and TdABA7 respectively. In parallel, according to the climate smart agriculture paradigm suggested by the Food and Agriculture Organization (FAO) to exploit the natural variation occurring in the durum wheat genetic resources, an allele mining approach has been performed to identify the presence of natural variation of the selected genes within a durum wheat collection of Single Seed Descent (SSD) lines representative of the Mediterranean cultivation area. The method consisted of an innovative cost-effective targeted-resequencing approach by Next Generation Sequencing (NGS) coupled with the KASP assay. By doing this, a total of 21 SNP in TdBCAT gene promoters were discovered in the SSD under analysis, which lead to the discovery of 5 different haplotypes in both A and B genes, of which some uniquely represented. To link the genotype to the phenotype, the same subset of SSD genotypes were analysed in DS condition by high throughput phenotyping and the digital biovolume and dry index indices were analysed. This allows the identification of five SSD lines as highly resilient to drought and good candidates for wheat breeding.