24 research outputs found
To be or not to be? What molecules say about Runcina brenkoae Thompson, 1980 (Gastropoda: Heterobranchia: Runcinida)
Runcinids are poorly known minute marine slugs inhabiting intertidal and shallow subtidal rocky shores. Among the European species, Runcina brenkoae, described from the Adriatic Sea in the Mediterranean, has been described to display chromatic variability, placing in question the true identity and geographic distribution of the species. In this paper we investigate the taxonomic status of R. brenkoae based on specimens from the central and western Mediterranean Sea and the southern Iberian coastline of Portugal and Spain, following an integrative approach combining multi-locus molecular phylogenetics based on the mitochondrial markers cytochrome c oxidase subunit I and 16S rRNA and the nuclear gene histone H3, together with the study of morpho-anatomical characters investigated by scanning electron microscopy. To aid in species delimitation, the Automatic Barcode Gap Discovery and Bayesian Poisson tree process methods were employed. Our results indicate the existence of a complex of three species previously identified as R. brenkoae, namely two new species here described (R. marcosi n. sp. and R. lusitanica n. sp.) and R. brenkoae proper
New insights into the genetic etiology of Alzheimer's disease and related dementias
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele