The Swiss Primary Hypersomnolence and Narcolepsy Cohort study (SPHYNCS): Study protocol for a prospective, multicentre cohort observational study

Narcolepsy type 1 (NT1) is a disorder with well-established markers and a suspected autoimmune aetiology. Conversely, the narcoleptic borderland (NBL) disorders, including narcolepsy type 2, idiopathic hypersomnia, insufficient sleep syndrome and hypersomnia associated with a psychiatric disorder, lack well-defined markers and remain controversial in terms of aetiology, diagnosis and management. The Swiss Primary Hypersomnolence and Narcolepsy Cohort Study (SPHYNCS) is a comprehensive multicentre cohort study, which will investigate the clinical picture, pathophysiology and long-term course of NT1 and the NBL. The primary aim is to validate new and reappraise well-known markers for the characterization of the NBL, facilitating the diagnostic process. Seven Swiss sleep centres, belonging to the Swiss Narcolepsy Network (SNaNe), joined the study and will prospectively enrol over 500 patients with recent onset of excessive daytime sleepiness (EDS), hypersomnia or a suspected central disorder of hypersomnolence (CDH) during a 3-year recruitment phase. Healthy controls and patients with EDS due to severe sleep-disordered breathing, improving after therapy, will represent two control groups of over 50 patients each. Clinical and electrophysiological (polysomnography, multiple sleep latency test, maintenance of wakefulness test) information, and information on psychomotor vigilance and a sustained attention to response task, actigraphy and wearable devices (long-term monitoring), and responses to questionnaires will be collected at baseline and after 6, 12, 24 and 36 months. Potential disease markers will be searched for in blood, cerebrospinal fluid and stool. Analyses will include quantitative hypocretin measurements, proteomics/peptidomics, and immunological, genetic and microbiota studies. SPHYNCS will increase our understanding of CDH and the relationship between NT1 and the NBL. The identification of new disease markers is expected to lead to better and earlier diagnosis, better prognosis and personalized management of CDH

Sympatric and Allopatric Divergence of MHC Genes in Threespine Stickleback

Parasites can strongly affect the evolution of their hosts, but their effects on host diversification are less clear. In theory, contrasting parasite communities in different foraging habitats could generate divergent selection on hosts and promote ecological speciation. Immune systems are costly to maintain, adaptable, and an important component of individual fitness. As a result, immune system genes, such as those of the Major Histocompatability Complex (MHC), can change rapidly in response to parasite-mediated selection. In threespine stickleback (Gasterosteus aculeatus), as well as in other vertebrates, MHC genes have been linked with female mating preference, suggesting that divergent selection acting on MHC genes might influence speciation. Here, we examined genetic variation at MHC Class II loci of sticklebacks from two lakes with a limnetic and benthic species pair, and two lakes with a single species. In both lakes with species pairs, limnetics and benthics differed in their composition of MHC alleles, and limnetics had fewer MHC alleles per individual than benthics. Similar to the limnetics, the allopatric population with a pelagic phenotype had few MHC alleles per individual, suggesting a correlation between MHC genotype and foraging habitat. Using a simulation model we show that the diversity and composition of MHC alleles in a sympatric species pair depends on the amount of assortative mating and on the strength of parasite-mediated selection in adjacent foraging habitats. Our results indicate parallel divergence in the number of MHC alleles between sympatric stickleback species, possibly resulting from the contrasting parasite communities in littoral and pelagic habitats of lakes

Interspecific Hybridization and Mitochondrial Introgression in Invasive Carcinus Shore Crabs

Interspecific hybridization plays an important role in facilitating adaptive evolutionary change. More specifically, recent studies have demonstrated that hybridization may dramatically influence the establishment, spread, and impact of invasive populations. In Japan, previous genetic evidence for the presence of two non-native congeners, the European green crab Carcinus maenas and the Mediterranean green crab C. aestuarii, has raised questions regarding the possibility of hybridization between these sister species. Here I present analysis based on both nuclear microsatellites and the mitochondrial cytochrome C oxidase subunit I (COI) gene which unambiguously argues for a hybrid origin of Japanese Carcinus. Despite the presence of mitochondrial lineages derived from both C. maenas and C. aestuarii, the Japanese population is panmictic at nuclear loci and has achieved cytonuclear equilibrium throughout the sampled range in Japan. Furthermore, analysis of admixture at nuclear loci indicates dramatic introgression of the C. maenas mitochondrial genome into a predominantly C. aestuarii nuclear background. These patterns, along with inferences drawn from the observational record, argue for a hybridization event pre-dating the arrival of Carcinus in Japan. The clarification of both invasion history and evolutionary history afforded by genetic analysis provides information that may be critically important to future studies aimed at assessing risks posed by invasive Carcinus populations to Japan and the surrounding region

Mise en évidence de la reproduction naturelle du saumon atlantique (Salmo salar L.) dans un affluent français du Rhin par analyse génétique d'oeufs prélevés dans des frayères

En utilisant la réaction de polymérisation en chaîne, nous avons pu amplifier des régions spécifiques des ADN nucléaire (région conservée des gènes du rARN 5S) et mitochondrial (région ND-5/6) extraits d'oeufs prélevés sur quatre frayères de salmonidés dans un tributaire du Rhin. Trois frayères abritaient des descendances de saumon atlantique et la quatrième une descendance de truite commune. Ces résultats prouvent que les techniques de biologie moléculaire permettent une identification des espèces de salmonidés à des stades très précoces de développement, et que les programmes de réintroduction de saumon atlantique dans le bassin du Rhin se sont traduits par une reprise de la reproduction naturelle du saumon atlantique dans la partie française de ce bassin

REPRODUCTION DE LA TRUITE (Salmo trutta L.) DANS LETORRENT DE CHEVENNE, HAUTE-SAVOIE.UN FONCTIONNEMENT ORIGINAL ?

La reproduction d’une population de truite (Salmo trutta L.) de forme essentiellement méditerranéenne est décrite dans le ruisseau du Chevenne, un torrent à forte pente (10 %) entrecoupé d’obstacles et limité en substrat de frai, situé dans les Alpes savoyardes. Les reproducteurs (résidents du torrent ou migrants issus du cours principal) diffèrent en taille et sexe-ratio. La majorité (58 %) des femelles migrantes entrent dans l’affluent déjà ovulées. Il existe une fort gradient décroissant aval-amont dans la répartition des géniteurs et des frayères. Les 157 frayères décrites montrent une grande diversité de microhabitats (5 types principaux) utilisés pour la reproduction, avec un pourcentage élevé (65 %) de frayères construites dans des sites protégés ayant une faible vitesse de courant (< 20 cm/s). La reproduction débute en radier, l’habitat de frai classique, puis elle s’étend ensuite aux autres microhabitats avant que le frai en milieu radier ne soit achevé. Une évaluation de la disponibilité et de l’utilisation du substrat favorable au frai (taille de 1 à 3 cm) dans les divers microhabitats a été réalisée a posteriori. Le microhabitat « côté de pool » (inhabituel pour le frai) est autant utilisé que le milieu radier. Les lentilles de substrat favorable, abritées en bordure de berge ou dans les courants sont préférées alors que les lentilles de substrat non protégées dans les courants sont évitées. Une crue en fin de la période de frai a totalement détruit 36 % des frayères avec un taux de destruction totale très variable selon le type de microhabitat de frai. Les frayères creusées en côté de pool et en bordure de berge protégées du courant ont été moins détruites (15-17 % de destruction totale) que dans les autres microhabitats (50 à 67 % de destruction totale). La diversité des sites de frai pourrait donc être une composante essentielle à la survie de la population de truite en milieu « torrent exposé à des crues hivernales »

Phylogeography of bleaks Alburnus spp. (Cyprinidae) in Italy, based on cytochrome b data

Sequence variation of a fragment of the mitochondrial DNA encoding for the cytochrome b gene was used to reconstruct the phylogeography of the two species of bleaks occurring in Italy: the alborella Alburnus arborella in northern Italy and the vulturino Alburnus albidus in southern Italy. The study includes four populations of the alborella and 14 populations of the vulturino. A total of 57 haplotypes were identified; these could not be sorted into two reciprocally monophyletic clusters. Multiple phylogenetic methods and nested clade phylogeographical analysis consistently retrieved three well-supported clades, two of which contained both Northern and Southern Italian haplotypes. A third clade is limited to southern Italy. This clade is tentatively assigned to the vulturino. The placement in the same clade of northern and southern Italian haplotypes is explained in light of the introductions of fishes operated from northern to central and southern Italy. The origin of the vulturino dates back to the last two million years. This divergence time estimate identifies the Pleistocene confluences between adjacent river basins along the Adriatic slope of the Italian peninsula and their subsequent isolation as the cause that triggered the diversification of the genus in the area. The existence of a clade endemic to southern Italy supports the recognition of the area as a new peri-Mediterranean ichthyogeographic district, the borders of which correspond to the northern and southern edges of the vulturino range

MOLECULAR PHYLOGENY OF THE GENUS ALBURNUS (CYPRINIDAE) BASED ON CYTOCHROME B DATA.

A first contribution on molecular genetics of the freshwater fish genus Alburnus in Ital

Habitat-specific adaptation of immune responses of stickleback (Gasterosteus aculeatus) lake and river ecotypes

Freshwater populations of three-spined sticklebacks (Gasterosteus aculeatus) in northern Germany are found as distinct lake and river ecotypes. Adaptation to habitat-specific parasites might influence immune capabilities of stickleback ecotypes. Here, naive laboratory-bred sticklebacks from lake and river populations were exposed reciprocally to parasite environments in a lake and a river habitat. Sticklebacks exposed to lake conditions were infected with higher numbers of parasite species when compared with the river. River sticklebacks in the lake had higher parasite loads than lake sticklebacks in the same habitat. Respiratory burst, granulocyte counts and lymphocyte proliferation of head kidney leucocytes were increased in river sticklebacks exposed to lake when compared with river conditions. Although river sticklebacks exposed to lake conditions showed elevated activation of their immune system, parasites could not be diminished as effectively as by lake sticklebacks in their native habitat. River sticklebacks seem to have reduced their immune-competence potential due to lower parasite diversity in rivers