Track A Basic Science

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/138319/1/jia218438.pd

The Last Glacial Maximum and Deglacial History of the Seno Skyring Ice Lobe (52°S), Southern Patagonia

There are still many uncertainties about the climatic forcing that drove the glacier fluctuations of the Patagonian Ice Sheet (PIS, 38–55°S) during the last glacial period. A key source of uncertainty is the asynchrony of ice lobe fluctuations between the northern, central, and southern PIS. To fully understand the regional trends requires careful mapping and extensive geochronological studies. This paper presents geomorphological and geochronological reconstructions of the glacial and deglacial landforms formed during the last glacial period at the Seno Skyring lobe, southernmost Patagonia (52°S, 71°W). We present a detailed geomorphological map, where we identify two moraine systems. The outer and older is named Laguna Blanca (LB) and the inner Río Verde (RV). The LB moraines were built subaerially, whereas parts of the RV were deposited subaqueously under the palaeo lake Laguna Blanca, which developed during deglaciation. We conducted surface exposure 10Be dating methods on boulder samples collected from LB and RV glacial margins. The moraine LB III and LB IV formed at 26.3 ± 2.3 ka (n = 5) and 24.3 ± 0.9 ka (n = 3), respectively. For the inner RV moraine, we obtained an age of 18.7 ± 1.5 ka (n = 6). For the palaeo Laguna Blanca evolution, we performed 10Be exposure ages on shoreline berms and optically stimulated luminesce dating to constrain the lake levels, and 10Be depth profile dating on an outwash deposit formed by a partial lake drainage event, which occurred at 22 ± 3 ka. For the RV moraine deglaciation, we performed radiocarbon dating of basal sediments in a peat bog, which indicates that the glacier retreated from the terminal RV moraine by at least c. 16.4 cal kyr BP. Our moraine geochronology shows an asynchrony in the maximum extents and a different pattern of ice advances between neighbouring lobes in southern Patagonia. We speculate that this may be due, at least in part, to the interaction between topography and the precipitation carried by the southern westerly wind belt. However, we found broad synchrony of glacial readvances contemporaneous with the RV moraine

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes have been shown to cause severe developmental and adult syndromes, referred to as SOXopathies. We here provide evidence that SOX6 variants also cause a SOXopathy. Using clinical and genetic data, we identify 19 individuals harboring various types of SOX6 alterations and exhibiting developmental delay and/or intellectual disability; the individuals are from 17 unrelated families. Additional, inconstant features include attention-deficit/hyperactivity disorder (ADHD), autism, mild facial dysmorphism, craniosynostosis, and multiple osteochondromas. All variants are heterozygous. Fourteen are de novo, one is inherited from a mosaic father, and four offspring from two families have a paternally inherited variant. Intragenic microdeletions, balanced structural rearrangements, frameshifts, and nonsense variants are predicted to inactivate the SOX6 variant allele. Four missense variants occur in residues and protein regions highly conserved evolutionarily. These variants are not detected in the gnomAD control cohort, and the amino acid substitutions are predicted to be damaging. Two of these variants are located in the HMG domain and abolish SOX6 transcriptional activity in vitro. No clear genotype-phenotype correlations are found. Taken together, these findings concur that SOX6 haploinsufficiency leads to a neurodevelopmental SOXopathy that often includes ADHD and abnormal skeletal and other features

Doping Liquid Argon with Xenon in ProtoDUNE Single-Phase: Effects on Scintillation Light

International audienceDoping of liquid argon TPCs (LArTPCs) with a small concentration of xenon is a technique for light-shifting and facilitates the detection of the liquid argon scintillation light. In this paper, we present the results of the first doping test ever performed in a kiloton-scale LArTPC. From February to May 2020, we carried out this special run in the single-phase DUNE Far Detector prototype (ProtoDUNE-SP) at CERN, featuring 770 t of total liquid argon mass with 410 t of fiducial mass. The goal of the run was to measure the light and charge response of the detector to the addition of xenon, up to a concentration of 18.8 ppm. The main purpose was to test the possibility for reduction of non-uniformities in light collection, caused by deployment of photon detectors only within the anode planes. Light collection was analysed as a function of the xenon concentration, by using the pre-existing photon detection system (PDS) of ProtoDUNE-SP and an additional smaller set-up installed specifically for this run. In this paper we first summarize our current understanding of the argon-xenon energy transfer process and the impact of the presence of nitrogen in argon with and without xenon dopant. We then describe the key elements of ProtoDUNE-SP and the injection method deployed. Two dedicated photon detectors were able to collect the light produced by xenon and the total light. The ratio of these components was measured to be about 0.65 as 18.8 ppm of xenon were injected. We performed studies of the collection efficiency as a function of the distance between tracks and light detectors, demonstrating enhanced uniformity of response for the anode-mounted PDS. We also show that xenon doping can substantially recover light losses due to contamination of the liquid argon by nitrogen