Search

The global overturning ocean circulation plays a key role in global climate by distributing heat around the Earth and by triggering or amplifying major climate changes. Neodymium (Nd) isotopes are widely used to trace present-day and past ocean circulation changes; however, their value as a circulation tracer has been increasingly challenged by studies that have focused on processes that can modify seawater Nd isotope ratios (for example, seawater interaction with particles, pore water fluxes from sediments). The Southwest Atlantic represents an excellent test bed for investigating the integrity of Nd isotopes as an ocean circulation tracer, as it includes the major Atlantic northern and southern hemisphere-sourced end-member water masses associated with the global overturning ocean circulation, Antarctic Intermediate Water , North Atlantic Deep Water , and Antarctic Bottom Water (AAIW, NADW, and AABW, respectively) and potential regional sources of Nd that could impact that integrity. This study reports Nd isotope data on the GEOTRACES GA02 Southwest Atlantic Meridional Transect, spanning the

Modern biogeochemical conditions of the Eastern Equatorial Pacific (EEP) region are characterized by high macronutrient concentrations but low phytoplankton abundance due to both iron and silicic acid limitation. Since primary producers significantly impact the global carbon cycle, paleoproductivity in relation to climate change and nutrient availability in this region has been a topic of a number of studies. However, the complex dynamics of this region, especially east of the Galapagos Islands, has led to some discrepancies when linking reconstructed paleoproductivity with potential mechanisms for higher primary productivity. Here we focus on reconstructing primary productivity of haptophyte algae and diatoms, as well as continental material input, sea surface salinity, and sea surface temperature, and compare these reconstructions with existing records for the period comprised between 150 and 110 ka (the penultimate deglaciation period) with the aim to understand the mechanisms that most significantly influence phytoplankton growth over the EEP region east of the Galapagos Islands. Our results suggest enhanced upwelling in the EEP system during the penultimate deglaciation and increased phytoplankton abundance mainly as the result of both the increasing influence of nutrient‐rich Southern Ocean sourced waters through the Equatorial Undercurrent and a higher input of iron through atmospheric deposition. The highest phytoplankton abundances recorded at the study site during the penultimate deglaciation also suggest that maximum input of nutrients might have occurred during the millennial‐scale event Heinrich Event 11 in the North Atlantic as a result of global atmospheric and oceanic reorganizations.

Item does not contain fulltext, A set of glutamylases and deglutamylases controls levels of tubulin polyglutamylation, a prominent post-translational modification of neuronal microtubules. Defective tubulin polyglutamylation was first linked to neurodegeneration in the Purkinje cell degeneration (pcd) mouse, which lacks deglutamylase CCP1, displays massive cerebellar atrophy, and accumulates abnormally glutamylated tubulin in degenerating neurons. We found biallelic rare and damaging variants in the gene encoding CCP1 in 13 individuals with infantile-onset neurodegeneration and confirmed the absence of functional CCP1 along with dysregulated tubulin polyglutamylation. The human disease mainly affected the cerebellum, spinal motor neurons, and peripheral nerves. We also demonstrate previously unrecognized peripheral nerve and spinal motor neuron degeneration in pcd mice, which thus recapitulated key features of the human disease. Our findings link human neurodegeneration to tubulin polyglutamylation, entailing this post-translational modification as a potential target for drug development for neurodegenerative disorders.

Contains fulltext : 170308.pdf (publisher's version ) (Closed access)

Paleoclimatic evolution of the last 140 ka (Marine Isotopic Stages MIS 1 to MIS 5) in the South Bay of Biscay has been studied by considering microfossil changes in sediment samples of deep core PP10-17. This core was retrieved at 2882 m water depth (mwd) in the Landas Plateau and is formed by 1792 cm of clay-silt continuously deposited sediment. For this study, a total of 114 samples have been examined, yielding approximately 60 thousands of specimens of foraminifers (181 benthic species, BF) and ostracods (70 spp.). Reconstruction of the benthic response is based on the main foraminifer and ostracod species by considering their oxic/anoxic character as well as other ecological features of the assemblages. Detailed quantification of microfossils (planktonic and benthic foraminifers, ostracods) together with grain size analyses and magnetic susceptibility of the sediments allow us to characterize many of the climatic events registered in this core. Based on a robust chronostratigraphy by correlation with reference core MD95-2002 and Greenland ice core records (GICC05modelext), we are able to characterize a detailed response of benthic environments to cooling/warming, oxygen-content and productivity cycles in the region. MIS 5 has been characterized by oscillations of the planktonic/benthic foraminifer ratio (Oceanity index, OI; 60–90%); this index was higher (90–100%) and stable through the MIS 4–MIS 3 intervals. We found BF species indicators of different climatic-related events. Thus, MIS 5a, c, e interstadials are evidenced by Bulimina gibba and B. aculeata while the stadials MIS 5b, d are shown by the occurrence of Melonis pompilioides. Heinrich events, with massive iceberg discharges into the N Atlantic Ocean, are indicated by presence of Globobulimina affinis, particularly during the MIS 4 to MIS 2 interval. The beginning of MIS 4 is indicated by the appearance of new species of BF and an increase of Cassidulina laevigata. Krithe spp. and C. laevigata are good

Item does not contain fulltext, The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder. In this study, we performed whole-exome sequencing in six unrelated probands with developmental delay, macrocephaly, and dysmorphic features. All six had de novo truncating variants in ASXL2. A careful review enabled the recognition of a specific phenotype consisting of macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, hypotonia, and developmental disabilities. Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. We were also able to demonstrate with mRNA studies that these variants are likely to exert a dominant-negative effect, given that both alleles are expressed in blood and the mutated ASXL2 transcripts escape nonsense-mediated decay. In conclusion, de novo truncating variants in ASXL2 underlie a neurodevelopmental syndrome with a clinically recognizable phenotype. This report expands the germline disorders that are linked to the ASXL genes.