Unpublished Mediterranean and Black Sea records of marine alien, cryptogenic, and neonative species

To enrich spatio-temporal information on the distribution of alien, cryptogenic, and neonative species in the Mediterranean and the Black Sea, a collective effort by 173 marine scientists was made to provide unpublished records and make them open access to the scientific community. Through this effort, we collected and harmonized a dataset of 12,649 records. It includes 247 taxa, of which 217 are Animalia, 25 Plantae and 5 Chromista, from 23 countries surrounding the Mediterranean and the Black Sea. Chordata was the most abundant taxonomic group, followed by Arthropoda, Mollusca, and Annelida. In terms of species records, Siganus luridus, Siganus rivulatus, Saurida lessepsianus, Pterois miles, Upeneus moluccensis, Charybdis (Archias) longicollis, and Caulerpa cylindracea were the most numerous. The temporal distribution of the records ranges from 1973 to 2022, with 44% of the records in 2020–2021. Lethrinus borbonicus is reported for the first time in the Mediterranean Sea, while Pomatoschistus quagga, Caulerpa cylindracea, Grateloupia turuturu, and Misophria pallida are first records for the Black Sea; Kapraunia schneideri is recorded for the second time in the Mediterranean and for the first time in Israel; Prionospio depauperata and Pseudonereis anomala are reported for the first time from the Sea of Marmara. Many first country records are also included, namely: Amathia verticillata (Montenegro), Ampithoe valida (Italy), Antithamnion amphigeneum (Greece), Clavelina oblonga (Tunisia and Slovenia), Dendostrea cf. folium (Syria), Epinephelus fasciatus (Tunisia), Ganonema farinosum (Montenegro), Macrorhynchia philippina (Tunisia), Marenzelleria neglecta (Romania), Paratapes textilis (Tunisia), and Botrylloides diegensis (Tunisia)

Ultra-Rare Genetic Variation in the Epilepsies : A Whole-Exome Sequencing Study of 17,606 Individuals

Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopathies (DEEs), genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE). We observed that compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy; we saw the strongest enrichment in individuals with DEEs and the least strong in individuals with NAFE. Moreover, we found that inhibitory GABA(A) receptor genes were enriched for missense variants across all three classes of epilepsy, whereas no enrichment was seen in excitatory receptor genes. The larger gene groups for the GABAergic pathway or cation channels also showed a significant mutational burden in DEEs and GGE. Although no single gene surpassed exome-wide significance among individuals with GGE or NAFE, highly constrained genes and genes encoding ion channels were among the lead associations; such genes included CACNAIG, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE. Our study, the largest epilepsy WES study to date, confirms a convergence in the genetics of severe and less-severe epilepsies associated with ultra-rare coding variation, and it highlights a ubiquitous role for GABAergic inhibition in epilepsy etiology.Peer reviewe

Biological invasions are a population-level rather than a species-level phenomenon.

Biological invasions pose a rapidly expanding threat to the persistence, functioning and service provisioning of ecosystems globally, and to socio-economic interests. The stages of successful invasions are driven by the same mechanism that underlies adaptive changes across species in general-via natural selection on intraspecific variation in traits that influence survival and reproductive performance (i.e., fitness). Surprisingly, however, the rapid progress in the field of invasion science has resulted in a predominance of species-level approaches (such as deny lists), often irrespective of natural selection theory, local adaptation and other population-level processes that govern successful invasions. To address these issues, we analyse non-native species dynamics at the population level by employing a database of European freshwater macroinvertebrate time series, to investigate spreading speed, abundance dynamics and impact assessments among populations. Our findings reveal substantial variability in spreading speed and abundance trends within and between macroinvertebrate species across biogeographic regions, indicating that levels of invasiveness and impact differ markedly. Discrepancies and inconsistencies among species-level risk screenings and real population-level data were also identified, highlighting the inherent challenges in accurately assessing population-level effects through species-level assessments. In recognition of the importance of population-level assessments, we urge a shift in invasive species management frameworks, which should account for the dynamics of different populations and their environmental context. Adopting an adaptive, region-specific and population-focused approach is imperative, considering the diverse ecological contexts and varying degrees of susceptibility. Such an approach could improve and refine risk assessments while promoting mechanistic understandings of risks and impacts, thereby enabling the development of more effective conservation and management strategies

Taming the terminological tempest in invasion science

Standardized terminology in science is important for clarity of interpretation and communication. In invasion science — a dynamic and quickly evolving discipline — the rapid proliferation of technical terminology has lacked a standardized framework for its language development. The result is a convoluted and inconsistent usage of terminology, with various discrepancies in descriptions of damages and interventions. A standardized framework is therefore needed for a clear, universally applicable, and consistent terminology to promote more effective communication across researchers, stakeholders, and policymakers. Inconsistencies in terminology stem from the exponential increase in scientific publications on the patterns and processes of biological invasions authored by experts from various disciplines and countries since the 1990s, as well as publications by legislators and policymakers focusing on practical applications, regulations, and management of resources. Aligning and standardizing terminology across stakeholders remains a prevailing challenge in invasion science. Here, we review and evaluate the multiple terms used in invasion science (e.g. 'non-native', 'alien', 'invasive' or 'invader', 'exotic', 'non-indigenous', 'naturalized, 'pest') to propose a more simplified and standardized terminology. The streamlined framework we propose and translate into 28 other languages is based on the terms (i) 'non-native', denoting species transported beyond their natural biogeographic range, (ii) 'established non-native', i.e. those non-native species that have established self-sustaining populations in their new location(s) in the wild, and (iii) 'invasive non-native' — populations of established non-native species that have recently spread or are spreading rapidly in their invaded range actively or passively with or without human mediation. We also highlight the importance of conceptualizing 'spread' for classifying invasiveness and 'impact' for management. Finally, we propose a protocol for classifying populations based on (1) dispersal mechanism, (2) species origin, (3) population status, and (4) impact. Collectively and without introducing new terminology, the framework that we present aims to facilitate effective communication and collaboration in invasion science and management of non-native species

Taming the terminological tempest in invasion science

Standardised terminology in science is important for clarity of interpretation and communication. In invasion science – a dynamic and rapidly evolving discipline – the proliferation of technical terminology has lacked a standardised framework for its development. The result is a convoluted and inconsistent usage of terminology, with various discrepancies in descriptions of damage and interventions. A standardised framework is therefore needed for a clear, universally applicable, and consistent terminology to promote more effective communication across researchers, stakeholders, and policymakers. Inconsistencies in terminology stem from the exponential increase in scientific publications on the patterns and processes of biological invasions authored by experts from various disciplines and countries since the 1990s, as well as publications by legislators and policymakers focusing on practical applications, regulations, and management of resources. Aligning and standardising terminology across stakeholders remains a challenge in invasion science. Here, we review and evaluate the multiple terms used in invasion science (e.g. ‘non-native’, ‘alien’, ‘invasive’ or ‘invader’, ‘exotic’, ‘non-indigenous’, ‘naturalised’, ‘pest’) to propose a more simplified and standardised terminology. The streamlined framework we propose and translate into 28 other languages is based on the terms (i) ‘non-native’, denoting species transported beyond their natural biogeographic range, (ii) ‘established non-native’, i.e. those non-native species that have established self-sustaining populations in their new location(s) in the wild, and (iii) ‘invasive non-native’ – populations of established non-native species that have recently spread or are spreading rapidly in their invaded range actively or passively with or without human mediation. We also highlight the importance of conceptualising ‘spread’ for classifying invasiveness and ‘impact’ for management. Finally, we propose a protocol for classifying populations based on (i) dispersal mechanism, (ii) species origin, (iii) population status, and (iv) impact. Collectively and without introducing new terminology, the framework that we present aims to facilitate effective communication and collaboration in invasion science and management of non-native species

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment

Weight–length relations for 103 fish species from the southern Aegean Sea, Turkey

Using a traditional, commercial, crustacean bottom trawl net we collected fish samples from the southern Aegean Sea, from Dec 2009 to Nov 2010, at depths of 30–225 m. We collected a total of 35 428 specimens representing 50 families and 103 species: Argentina sphyraena Linnaeus, 1758; Arnoglossus laterna (Walbaum, 1792); Arnoglossus rueppelii (Cocco, 1844); Arnoglossus thori Kyle, 1913; Belone belone (Linnaeus, 1761); Belone svetovidovi Collette et Parin, 1970; Blennius ocellaris Linnaeus, 1758; Boops boops (Linnaeus, 1758); Bothus podas (Delaroche, 1809); Buglossidium luteum (Risso, 1810); Callionymus lyra Linnaeus, 1758; Callionymus risso Lesueur, 1814; Capros aper (Linnaeus, 1758); Cepola macrophthalma (Linnaeus, 1758); Chelidonichthys cuculus (Linnaeus, 1758); Chelidonichthys lucerne (Linnaeus, 1758); Chlorophthalmus agassizi Bonaparte, 1840; Chromis chromis (Linnaeus, 1758); Citharus linguatula (Linnaeus, 1758); Coelorinchus caelorhincus (Risso, 1810); Conger conger (Linnaeus, 1758); Coris julis (Linnaeus, 1758); Dentex dentex (Linnaeus, 1758); Diplodus annularis (Linnaeus, 1758); Diplodus sargus sargus (Linnaeus, 1758); Diplodus vulgaris (Geoffroy Saint-Hilaire, 1817); Echelus myrus (Linnaeus, 1758); Equulites klunzingeri (Steindachner, 1898); Eutrigla gurnardus (Linnaeus, 1758); Fistularia commersonii Rüppell, 1838; Gadiculus argenteus Guichenot, 1850; Glossanodon leioglossus (Valenciennes, 1848); Gobius cruentatus Gmelin, 1789; Gobius niger Linnaeus, 1758; Helicolenus dactylopterus (Delaroche, 1809); Hoplostethus mediterraneus Cuvier, 1829; Labrus merula Linnaeus, 1758; Labrus viridis Linnaeus, 1758; Lampanyctus crocodilus (Risso, 1810); Lepidorhombus boscii (Risso, 1810); Lepidorhombus whiffiagonis (Walbaum, 1792); Lepidotrigla cavillone (Lacepède, 1801); Lepidotrigla dieuzeidei Blanc et Hureau, 1973; Lesueurigobius friesii (Malm, 1874); Lithognathus mormyrus (Linnaeus, 1758); Liza ramada (Risso, 1827); Lophius budegassa Spinola, 1807; Lophius piscatorius Linnaeus, 1758; Macroramphosus scolopax (Linnaeus, 1758); Merluccius merluccius (Linnaeus, 1758); Mullus barbatus barbatus Linnaeus, 1758; Mullus surmuletus Linnaeus, 1758; Mustelus mustelus (Linnaeus, 1758); Mustelus punctulatus Risso, 1827; Nemipterus randalli Russell, 1986; Oblada melanura (Linnaeus, 1758); Pagellus acarne (Risso, 1827); Pagellus bogaraveo (Brünnich, 1768); Pagellus erythrinus (Linnaeus, 1758); Parablennius tentacularis (Brünnich, 1768); Peristedion cataphractum (Linnaeus, 1758); Pomadasys incisus (Bowdich, 1825); Pomatoschistus minutus (Pallas, 1770); Raja miraletus Linnaeus, 1758; Raja radula Delaroche, 1809; Salaria pavo (Risso, 1810); Saurida undosquamis (Richardson, 1848); Sciaena umbra Linnaeus, 1758; Scomber japonicas Houttuyn, 1782; Scophthalmus rhombus (Linnaeus, 1758); Scorpaena notata Rafinesque, 1810; Scorpaena porcus Linnaeus, 1758; Scorpaena scrofa Linnaeus, 1758; Scyliorhinus canicula (Linnaeus, 1758); Scyliorhinus stellaris (Linnaeus, 1758); Serranus cabrilla (Linnaeus, 1758); Serranus hepatus (Linnaeus, 1758); Serranus scriba (Linnaeus, 1758); Solea solea (Linnaeus, 1758); Sphyraena chrysotaenia Klunzinger, 1884; Spicara maena (Linnaeus, 1758); Spondyliosoma cantharus (Linnaeus, 1758); Squalus blainvillei (Risso, 1827); Symphodus cinereus (Bonnaterre, 1788); Symphodus doderleini Jordan, 1890; Symphodus mediterraneus (Linnaeus, 1758); Symphodus melanocercus (Risso, 1810); Symphodus ocellatus (Linnaeus, 1758); Symphodus rostratus (Bloch, 1791); Symphodus tinca (Linnaeus, 1758); Syngnathus acus Linnaeus, 1758; Torpedo marmorata Risso, 1810; Torpedo nobiliana Bonaparte, 1835; Trachinus draco Linnaeus, 1758; Trachurus mediterraneus (Steindachner, 1868); Trachurus picturatus (Bowdich, 1825); Trachurus trachurus (Linnaeus, 1758); Trigla lyra Linnaeus, 1758; Trigloporus lastoviza (Bonnaterre, 1788); Upeneus moluccensis (Bleeker, 1855); Upeneus pori Ben-Tuvia et Golani, 1989; Uranoscopus scaber Linnaeus, 1758; Zeus faber Linnaeus, 1758.  We estimated weight–length relations for the fishes collected. Values of the allometric coefficient (b) ranged from 2.1729 for Cepola macrophthalma to 3.6372 for Equulites klunzingeri. All relations were highly significant (P < 0.001), with the majority (94.17% of 103 species) r2 values being greater than 0.9. Four species evidenced isometric growth, 50 species showed positive allometry, and 49 species have negative allometry. Seven species studied were Lessepsian migrants

The relationship of polymorphism with explosive forces in ACTN3, ACE, and UCP3 genes in soccer players

Study Objectives: The purpose of the study was to investigate the relationship of polymorphism with explosive forces in ACTN3, ACE, and UCP3 genes in soccer players. Methods: A total of 19 male soccer players and 9 sedentary voluntarily participated. Countermovement jump, squat jump, and standing long jump tests were applied to the subjects. On the same day, the subjects performed the jump tests twice again and the best score was recorded. Blood was drawn from subjects for Genomic DNA isolation. PCR products of ACTN3 and UCP3 genes Medical Genetics department genotypic differences between the groups were determined by analyzing with an automatic DNA sequencing system. Since taken non-parametric assumptions, it was analyzed by the Spearman test. Results: In subject group, a statistically significant relationship was found between all three jump performances in the subjects with ACTN3 RR and ACE ID genotype (p CMJ=0.04; SJ=0.04; SLJ=0.05) (p0.05). A statistically significant relationship was found between all three jump performances in subjects with ACE ID and UCP3 -55C/C genotype (p CMJ=0.00; SJ=0.00; SLJ=0.00) (p<0.05). Conclusion: We found that, associations of explosive forces with polymorphisms. Although genotypes of athletes are similar to previous studies, stronger evidence is needed to establish a meaningful relationship between genotype and explosive power. © Mattioli 1885