Study of Johnsons Glacier (Livingston Island, Antarctica) by means of shallow ice cores and their tephra and by analysis of 137Cs content

With the aim of monitoring the dynamics of the Livingston Island ice cap, the Departament de Geodinàmica i Geofísica of the Universitat de Barcelona began yearly surveys in the austral summer of 1994-95 on Johnsons Glacier. During this field campaign 10 shallow ice cores were sampled with a manual ve rtical ice-core drilling machine. The objectives were: i) to detect the tephra layer accumulated on the glacier surface, attributed to the 1970 Deception Island pyroclastic eruption, today interstratified; ii) to verify wheter this layer might serve as a reference level; iii) to measure the 137Cs radio-isotope concentration accumulated in the 1965 snow stratum; iv) to use the isochrone layer as a mean of verifying the age of the 1970 tephra layer; and, v) to calculate both the equilibrium line of the glacier and average mass balance over the last 28 years (1965-1993). The stratigraphy of the cores, their cumulative density curves and the isothermal ice temperatures recorded confirm that Johnsons Glacier is a temperate glacier. Wind, solar radiation heating and liquid water are the main agents controlling the ve rtical and horizontal redistribution of the volcanic and cryoclastic particles that are sedimented and remain interstratified within the glacier. It is because of this redistribution that the 1970 tephra layer does not always serve as a very good reference level. The position of the equilibrium line altitude (ELA) in 1993, obtained by the 137Cs spectrometric analysis, varies from about 200 m a.s.l. to 250 m a.s.l. This indicates a rising trend in the equilibrium line altitude from the beginning of the 1970s to the present day. The varying slope orientation of Johnsons Glacier relative to the prevailing NE wind gives rise to large local differences in snow accumulation, which locally modifies the equilibrium line altitude. In the cores studied, 137Cs appears to be associated with the 1970 tephra layer. This indicates an intense ablation episode throughout the sampled area (at least up to 330 m a.s.l), which probably occurred synchronically to the 1970 tephra deposition or later. A rough estimate of the specific mass balance reveals a considerable accumulation gradient related to the increase with altitude

Study of Johnsons Glacier (Livingston Island, Antarctica) by means of shallow ice cores and their tephra and by analysis of 137Cs content

Amb l’objectiu de monitoritzar la dinàmica del casquet glacial de l’Illa de Livingston, el Departament de Geodinàmica i Geofísica de la Universitat de Barcelona va iniciar campanyes de mesura anuals a la glacera de Johnsons durant l’estiu austral de 1994-95. Durant aquesta campanya de camp es van dur a terme 10 sondejos de gel poc profunds, amb recuperació de testimoni continu, mostrejats ve rt icalment amb una sonda manual. Els objectius eren detectar la capa de cendres volcàniques dipositades a la superfície de la glacera, que s’atribueixen a l’erupció piroclàstica de l’illa Decepción de 1970, actualment interestratificada, ve r i ficar si aquesta capa pot ser utilitzada com a nivell guia, identificar l’horitzó enriquit en el radioisòtop 137Cs acumulat en l’estrat de neu corresponent a l’any 1965, actualment també interestratificada, utilitzar aquest nivell isòcron per comprovar la datació de la capa de cendres de 1970 i calcular la línia d’equilibri de la glacera i el seu balanç de massa mitjà per als últims 28 anys (1965-1993). L’ estratigrafia dels testimonis de gel dels sondejos, les seves corbes de densitat acumulada i les temperatures quasi isotermes del gel enregistrades confi rmen que la glacera de Johnsons és temperada. El vent, l’escalfament produït per la radiació solar i l’aigua líquida són els agents principals que controlen la redistribució horitzontal i ve rtical de les partícules, tant volcàniques com crioclàstiques, que sedimenten a la superfície de la glacera i hi romanen inter estratificades. Per causa d’aquesta redistribució, la capa de cendres no sempre és un bon nivell de referència. La posició altitudinal de la línia d’equilibri (ELA) el 1993, obtinguda de l’anàlisi per espectrometria del radioisòtop 137Cs, varia des de 200 m s.n.m fins a 250 ms.n.m. Això implica un ascens en l’altitud de la línia d’equilibri des de l’inici de la dècada de 1970 fins a l’actualitat. La diferent orientació dels vessants de la glacera de Johnsons respecte als vents predominants del NE provoca importants diferències locals en l’acumulació de neu que, localment, fa variar l’altitud de la línia d’equilibri. Als testimonis de gel estudiats el 137Cs sempre es troba associat a les partícules de la capa de cendres de 1970. Això implica l’existència d’un important episodi d’ablació en tota l’àrea mostrejada (com a mínim fins a una altitud de 330 m s.n.m.) que es va produir sincrònicament al dipòsit de la capa de cendres de 1970 o amb posterioritat. Una estimació a grans trets del balanç de massa indica un elevat gradient d’acumulació en funció de l’increment d’altitud de la glacera.With the aim of monitoring the dynamics of the Livingston Island ice cap, the Departament de Geodinàmica i Geofísica of the Universitat de Barcelona began yearly surveys in the austral summer of 1994-95 on Johnsons Glacier. During this field campaign 10 shallow ice cores were sampled with a manual ve rtical ice-core drilling machine. The objectives were: i) to detect the tephra layer accumulated on the glacier surface, attributed to the 1970 Deception Island pyroclastic eruption, today interstratified; ii) to verify wheter this layer might serve as a reference level; iii) to measure the 137Cs radio-isotope concentration accumulated in the 1965 snow stratum; iv) to use the isochrone layer as a mean of verifying the age of the 1970 tephra layer; and, v) to calculate both the equilibrium line of the glacier and average mass balance over the last 28 years (1965-1993). The stratigraphy of the cores, their cumulative density curves and the isothermal ice temperatures recorded confirm that Johnsons Glacier is a temperate glacier. Wind, solar radiation heating and liquid water are the main agents controlling the ve rtical and horizontal redistribution of the volcanic and cryoclastic particles that are sedimented and remain interstratified within the glacier. It is because of this redistribution that the 1970 tephra layer does not always serve as a very good reference level. The position of the equilibrium line altitude (ELA) in 1993, obtained by the 137Cs spectrometric analysis, varies from about 200 m a.s.l. to 250 m a.s.l. This indicates a rising trend in the equilibrium line altitude from the beginning of the 1970s to the present day. The varying slope orientation of Johnsons Glacier relative to the prevailing NE wind gives rise to large local differences in snow accumulation, which locally modifies the equilibrium line altitude. In the cores studied, 137Cs appears to be associated with the 1970 tephra layer. This indicates an intense ablation episode throughout the sampled area (at least up to 330 m a.s.l), which probably occurred synchronically to the 1970 tephra deposition or later. A rough estimate of the specific mass balance reveals a considerable accumulation gradient related to the increase with altitude

Climate variability along latitudinal and longitudinal transects in East Antarctica

AbstractIn the framework of the International Trans-Antarctic Scientific Expedition (ITASE) programme, France and Italy carried out a traverse along one west–east and two north–south transects in East Antarctica from November 2001 to January 2002. Eighteen shallow snow–firn cores were drilled, and surface snow samples were collected every 5km along the traverse. Firn temperatures were measured in boreholes down to 30 m. The cores were analyzed for β radioactivity to obtain snow accumulation-rate data. The surface snow samples were analyzed for δ18O to correlate isotopic values with borehole temperatures. Multiple regression analysis shows a global near-dry-adiabatic lapse rate and a latitudinal lapse rate of 1.05˚C(˚ lat. S)–1, in the Dome C drainage area. Analysis of firn temperatures reveals a super-adiabatic lapse rate along the ice divide between Talos Dome and the Southern Ocean coast, and in some sectors along the ice divide between the Astrolabe Basin and D59. Snow accumulation rates and firn temperatures show warmer temperatures and higher accumulation values close to the ice divides extending from Talos Dome and Dome C to the Southern Ocean. The spatial pattern of data is linked with a katabatic-wind-source basin and moisture-source region

iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy.

BACKGROUND Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and a frequent cause of heart failure and sudden cardiac death. Our understanding of the genetic bases and pathogenic mechanisms underlying HCM has improved significantly in the recent past, but the combined effect of various pathogenic gene variants and the influence of genetic modifiers in disease manifestation are very poorly understood. Here, we set out to investigate genotype-phenotype relationships in 2 siblings with an extensive family history of HCM, both carrying a pathogenic truncating variant in the MYBPC3 gene (p.Lys600Asnfs*2), but who exhibited highly divergent clinical manifestations. METHODS We used a combination of induced pluripotent stem cell (iPSC)-based disease modeling and CRISPR (clustered regularly interspersed short palindromic repeats)/Cas9 (CRISPR-associated protein 9)-mediated genome editing to generate patient-specific cardiomyocytes (iPSC-CMs) and isogenic controls lacking the pathogenic MYBPC3 variant. RESULTS Mutant iPSC-CMs developed impaired mitochondrial bioenergetics, which was dependent on the presence of the mutation. Moreover, we could detect altered excitation-contraction coupling in iPSC-CMs from the severely affected individual. The pathogenic MYBPC3 variant was found to be necessary, but not sufficient, to induce iPSC-CM hyperexcitability, suggesting the presence of additional genetic modifiers. Whole-exome sequencing of the mutant carriers identified a variant of unknown significance in the MYH7 gene (p.Ile1927Phe) uniquely present in the individual with severe HCM. We finally assessed the pathogenicity of this variant of unknown significance by functionally evaluating iPSC-CMs after editing the variant. CONCLUSIONS Our results indicate that the p.Ile1927Phe variant of unknown significance in MYH7 can be considered as a modifier of HCM expressivity when found in combination with truncating variants in MYBPC3. Overall, our studies show that iPSC-based modeling of clinically discordant subjects provides a unique platform to functionally assess the effect of genetic modifiers.The funding for this research was provided by the Spanish Ministry of Science and Innovation-MCIN (grants PID2021-123925OB-I00, PID2019-104776RB-I00, CB06/01/1056, and CB16/11/00399 financed by MCIN/AEI/10.13039/501100011033), AGAUR (2021-SGR-974), Fundació La Marató de TV3 (201534-30), Fundación BBVA (BIO14_298), Fundació Obra Social la Caixa, and CERCA Program/ Generalitat de Catalunya. The CNIC is supported by the Instituto de Salud Carlos III (ISCIII), the MCIN, and the Pro CNIC Foundation. I. Lazis was partially supported by a predoctoral fellowship from MCIN (PRE2019-087901).S

EMT Inducers Catalyze Malignant Transformation of Mammary Epithelial Cells and Drive Tumorigenesis towards Claudin-Low Tumors in Transgenic Mice

The epithelial-mesenchymal transition (EMT) is an embryonic transdifferentiation process consisting of conversion of polarized epithelial cells to motile mesenchymal ones. EMT–inducing transcription factors are aberrantly expressed in multiple tumor types and are known to favor the metastatic dissemination process. Supporting oncogenic activity within primary lesions, the TWIST and ZEB proteins can prevent cells from undergoing oncogene-induced senescence and apoptosis by abolishing both p53- and RB-dependent pathways. Here we show that they also downregulate PP2A phosphatase activity and efficiently cooperate with an oncogenic version of H-RAS in malignant transformation of human mammary epithelial cells. Thus, by down-regulating crucial tumor suppressor functions, EMT inducers make cells particularly prone to malignant conversion. Importantly, by analyzing transformed cells generated in vitro and by characterizing novel transgenic mouse models, we further demonstrate that cooperation between an EMT inducer and an active form of RAS is sufficient to trigger transformation of mammary epithelial cells into malignant cells exhibiting all the characteristic features of claudin-low tumors, including low expression of tight and adherens junction genes, EMT traits, and stem cell–like characteristics. Claudin-low tumors are believed to be the most primitive breast malignancies, having arisen through transformation of an early epithelial precursor with inherent stemness properties and metaplastic features. Challenging this prevailing view, we propose that these aggressive tumors arise from cells committed to luminal differentiation, through a process driven by EMT inducers and combining malignant transformation and transdifferentiation