Onboard Scientific Observers Provide a Realistic Picture of Harvesting and Management Priorities for the Precious Red Coral (Corallium rubrum L.)

Mediterranean red coral Corallium rubrum is considered the most precious coral worldwide. Harvesting activities are performed by licensed scuba divers and managed through the recent pan-Mediterranean management plan issued by General Fisheries Commission for the Mediterranean (GFCM) along with measures locally enacted, imposing limits on licenses, harvesting season, minimum depth of dive, and size. The use of Remotely Operated Vehicles (ROVs) is prohibited, with the only exception being for scientific purposes. Despite measures already in force, the implementation of additional management tools has been recently recommended. This article reports results from the first monitoring campaign on C. rubrum harvesting based on ROVs for seabed exploration and Onboard Scientific Observers (OSOs), carried out from 2012 to 2015 along the coast of Sardinia (Mediterranean Sea—Western basin). More than 450 dives were monitored, confirming how ROV's support eases the scouting of exploitable banks, leading to increases in catches. OSOs reported the collection of colonies below the minimum reference size and catches/dive above limits. Onboard observers collected data also on colony diameter, which is crucial for the estimation of population size structure and exploitation status. OSOs proved to be valid tools in providing additional and reliable information on red coral harvesting, thus deserving to be included among mandatory measures for the sustainable exploitation of red coral in the Mediterranean Sea

Genetic diversity, connectivity and gene flow along the distribution of the emblematic Atlanto-Mediterranean sponge Petrosia ficiformis (Haplosclerida, Demospongiae)

Background: Knowledge about the distribution of the genetic variation of marine species is fundamental to address species conservation and management strategies, especially in scenarios with mass mortalities. In the Mediterranean Sea, Petrosia ficiformis is one of the species most affected by temperature-related diseases. Our study aimed to assess its genetic structure, connectivity, and bottleneck signatures to understand its evolutionary history and to provide information to help design conservation strategies of sessile marine invertebrates. Results: We genotyped 280 individuals from 19 locations across the entire distribution range of P. ficiformis in the Atlanto-Mediterranean region at 10 microsatellite loci. High levels of inbreeding were detected in most locations (especially in the Macaronesia and the Western Mediterranean) and bottleneck signatures were only detected in Mediterranean populations, although not coinciding entirely with those with reported die-offs. We detected strong significant population differentiation, with the Atlantic populations being the most genetically isolated, and show that six clusters explained the genetic structure along the distribution range of this sponge. Although we detected a pattern of isolation by distance in P. ficiformis when all locations were analyzed together, stratified Mantel tests revealed that other factors could be playing a more prominent role than isolation by distance. Indeed, we detected a strong effect of oceanographic barriers impeding the gene flow among certain areas, the strongest one being the Almeria-Oran front, hampering gene flow between the Atlantic Ocean and the Mediterranean Sea. Finally, migration and genetic diversity distribution analyses suggest a Mediterranean origin for the species. Conclusions: In our study Petrosia ficiformis showed extreme levels of inbreeding and population differentiation, which could all be linked to the poor swimming abilities of the larva. However, the observed moderate migration patterns are highly difficult to reconcile with such poor larval dispersal, and suggest that, although unlikely, dispersal may also be achieved in the gamete phase. Overall, because of the high genetic diversity in the Eastern Mediterranean and frequent mass mortalities in the Western Mediterranean, we suggest that conservation efforts should be carried out specifically in those areas of the Mediterranean to safeguard the genetic diversity of the species

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.

Background Hepcidin plays a key role in body iron metabolism by preventing the release of iron from macrophages and intestinal cells. Defective hepcidin synthesis causes iron loading, while overproduction results in defective reticuloendothelial iron release and iron absorption. Design and Methods We studied a Sardinian family in which microcytic anemia due to defective iron absorption and utilization is inherited as a recessive character. Five members showed iron deficiency anemia that was not responsive to oral iron and only partially responsive to parenteral iron administration. To investigate the involvement of known genes implicated in iron metabolism we carried out linkage analysis with microsatellite markers mapping close to these genes. Afterwards, a genome-wide search was performed. Results No linkage was found between the phenotype of the patients and several known human genes involved in iron metabolism ( DMT1, TF, TFRC, ZIRTL, HAMP, HJV ). Genome-wide scanning by microsatellites and single nucleotide polymorphisms showed a multipoint LOD score of 5.6 on chromosome 22q12.3–13.1, where the matriptase-2 (also known as transmembrane protease, serine 6 or TMPRSS6 ) gene is located. Its murine counterpart ( Tmprss6 ) has recently been found to be an essential component of a pathway that detects iron deficiency and suppresses hepcidin production. Sequencing analysis of TMPRSS6 revealed a homozygous causal mutation, predicting a splicing error and a truncated TMPRSS6 protein in affected members. Homozygous subjects had inappropriately elevated levels of serum and urinary hepcidin. Conclusions The findings of this study suggest that the observed TMPRSS6 mutation leads to overproduction of hepcidin and, in turn, to defective iron absorption and utilization. More generally, they confirm in humans the inhibitory effect of matriptase-2 on hepcidin synthesis already demonstrated in mice

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Dravet syndrome is an archetypal rare severe epilepsy, considered “monogenic”, typically caused by loss-of-function SCN1A variants. Despite a recognisable core phenotype, its marked phenotypic heterogeneity is incompletely explained by differences in the causal SCN1A variant or clinical factors. In 34 adults with SCN1A-related Dravet syndrome, we show additional genomic variation beyond SCN1A contributes to phenotype and its diversity, with an excess of rare variants in epilepsy-related genes as a set and examples of blended phenotypes, including one individual with an ultra-rare DEPDC5 variant and focal cortical dysplasia. Polygenic risk scores for intelligence are lower, and for longevity, higher, in Dravet syndrome than in epilepsy controls. The causal, major-effect, SCN1A variant may need to act against a broadly compromised genomic background to generate the full Dravet syndrome phenotype, whilst genomic resilience may help to ameliorate the risk of premature mortality in adult Dravet syndrome survivors

Les matériaux de construction à l'époque romaine et leur rapport avec les anciennes carrières : l'exemple du théâtre de Nora (Sardaigne SO - Italie)

Melis Susanna, Columbu Stefano. Les matériaux de construction à l'époque romaine et leur rapport avec les anciennes carrières : l'exemple du théâtre de Nora (Sardaigne SO - Italie). In: La pierre dans la ville antique et médiévale. Actes du colloque d’Argentomagus Tours : Fédération pour l'édition de la Revue archéologique du Centre de la France, 2000. pp. 103-117. (Supplément à la Revue archéologique du centre de la France, 18

Les matériaux de construction à l'époque romaine et leur rapport avec les anciennes carrières : l'exemple du théâtre de Nora (Sardaigne SO - Italie)

Melis Susanna, Columbu Stefano. Les matériaux de construction à l'époque romaine et leur rapport avec les anciennes carrières : l'exemple du théâtre de Nora (Sardaigne SO - Italie). In: La pierre dans la ville antique et médiévale. Actes du colloque d’Argentomagus Tours : Fédération pour l'édition de la Revue archéologique du Centre de la France, 2000. pp. 103-117. (Supplément à la Revue archéologique du centre de la France, 18

Sardinian deer: derivations, fossil discoveries and current distribution

The main purpose of my work is to describe and to apply the current method of census of roaring of Sardinian deer, and to deepen the aspect of his derivations and the fossil discoveries concerning the presence of cervids in Sardinia in the Quaternary. I focused this work on the fossil endemic species Praemegaceros cazioti and on the actual endemic species Cervus elaphus corsicanus, because I wanted to obtain the most complete view about their morphological and evolutive characteristics