Distributions of highly branched isoprenoid alkenes and other algal lipids in surface waters from East Antarctica: Further insights for biomarker-based paleo sea-ice reconstruction

The occurrence and variable abundance of certain di- and tri-unsaturated C₂₅ highly branched isoprenoid (HBI) biomarkers in Antarctic marine sediments has previously been proposed as a possible proxy measure of paleo sea-ice extent in the Southern Ocean. In the current study, we obtained 47 near-surface (ca. 0-10 m) water samples taken from locations in East Antarctica with different sea ice settings and analysed them for their HBI, sterol and fatty acid content. Sampling locations ranged from the permanently open-ocean zone (POOZ), with no seasonal sea-ice cover, the near-shore summer sea ice zone (SIZ), where sea ice remains long into the summer melt season, and the marginal ice zone (MIZ), located between the POOZ and the SIZ, and with a highly variable latitudinal sea-ice edge throughout the season. A di-unsaturated C₂₅ HBI (diene II) was only identified in surface waters from the MIZ and the SIZ, consistent with a sea-ice diatom origin for this biomarker. In contrast, a tri-unsaturated C₂₅ HBI (triene III) was detected in all samples from the POOZ, the MIZ and the SIZ, and with a stable isotopic composition (δ¹³C = -35 ± 1.5‰) consistent with a phytoplankton source. The highest concentrations of diene II and triene III were in samples from the SIZ and the MIZ, respectively, thus providing further insights into the sea-ice conditions likely favourable for their production and how their relative abundances (the II/III ratio) in underlying sediments might be better interpreted for paleo sea-ice reconstruction. In this respect, relatively high II/III might be a good indicator of extended (into summer) seasonal sea-ice cover, while lower II/III may provide a better indicator of the MIZ. However, the observation of highly variable II/III within the polynya setting of the SIZ may also have significant impacts on sedimentary values. Distributions of diatom sterols and fatty acids were also variable between the three sampling zones, but these were not as distinctive as those observed for the HBIs.10 page(s

Holocene climate variations in the western Antarctic Peninsula: evidence for sea ice extent predominantly controlled by changes in insolation and ENSO variability

n/

Holocene climate variations in the western Antarctic Peninsula: evidence for sea ice extent predominantly controlled by changes in insolation and ENSO variability

The West Antarctic ice sheet is particularly sensitive to global warming and its evolution and impact on global climate over the next few decades remains difficult to predict. In this context, investigating past sea ice conditions around Antarctica is of primary importance. Here, we document changes in sea ice presence, upper water column temperatures (0-200 m) and primary productivity over the last 9000 yr BP (before present) in the western Antarctic Peninsula (WAP) margin from a sedimentary core collected in the Palmer Deep Basin. Employing a multi-proxy approach, based on the combination of two biomarkers proxies (highly branched isoprenoid (HBI) alkenes for sea ice and TEXL 86 for temperature) and micropaleontological data (diatom assemblages), we derived new Holocene records of sea ice conditions and upper water column temperatures. The early Holocene (9000-7000 yr BP) was characterized by a cooling phase with a short sea ice season. During the midHolocene (similar to 7000-3800 yr BP), local climate evolved towards slightly colder conditions and a prominent extension of the sea ice season occurred, promoting a favorable environment for intensive diatom growth. The late Holocene (the last similar to 100 yr) was characterized by warmer temperatures and increased sea ice presence, accompanied by reduced local primary productivity, likely in response to a shorter growing season compared to the early or mid-Holocene. The gradual increase in annual sea ice duration over the last 7000 yr might have been influenced by decreasing mean annual and spring insolation, despite increasing summer insolation. We postulate that, in addition to precessional changes in insolation, seasonal variability, via changes in the strength of the circumpolar Westerlies and upwelling activity, was further amplified by the increasing frequency/amplitude of the El Nino-Southern Oscillation (ENSO). However, between 3800 and 2100 yr BP, the lack of correlation between ENSO and climate variability in the WAP suggests that other climatic factors might have been more important in controlling WAP climate at this time

Continental slope and rise geomorphology seaward of the Totten Glacier, East Antarctica (112°E-122°E)

The continental slope and rise seaward of the Totten Glacier and the Sabrina Coast, East Antarctica features continental margin depositional systems with high sediment input and consistent along-slope current activity. Understanding their genesis is a necessary step in interpreting the paleoenvironmental records they contain. Geomorphic mapping using a systematic multibeam survey shows variations in the roles of downslope and along slope sediment transport influenced by broad-scale topography and oceanography. The study area contains two areas with distinct geomorphology. Canyons in the eastern part of the area have concave thalwegs, are linked to the shelf edge and upper slope and show signs of erosion and deposition along their beds suggesting cycles of activity controlled by climate cycles. Ridges between these canyons are asymmetric with crests close to the west bank of adjacent canyons and are mostly formed by westward advection of fine sediment lofted from turbidity currents and deposition of hemipelagic sediment. They can be thought of as giant levee deposits. The ridges in the western part of the area have more gently sloping eastern flanks and rise to shallower depths than those in the east. The major canyon in the western part of the area is unusual in having a convex thalweg; it is likely fed predominantly by mass movement from the flanks of the adjacent ridges with less sediment input from the shelf edge. The western ridges formed by accretion of suspended sediment moving along the margin as a broad plume in response to local oceanography supplemented with detritus originating from the Totten Glacier. This contrasts with interpretations of similar ridges described from other parts of Antarctica which emphasise sediment input from canyons immediately up-current. The overall geomorphology of the Sabrina Coast slope is part of a continuum of mixed contourite-turbidite systems identified on glaciated margins.Australian Government 4333Australian Research Council DP170100557Italian Programma Nazionale di Richerch in Antartide (PNRA)Spanish Government CTM2014-60451-C2-1-P CTM2017-89711-C2-1-

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical level, these two phenotypes can be differentiated by the presence of significant dysmorphic facial features and a more severe grade of lissencephaly in MDS. Previous work has suggested that children with MDS have a larger deletion than those with ILS, but the precise boundaries of the MDS critical region and causative genes other than LIS1 have never been fully determined. We have completed a physical and transcriptional map of the 17p13.3 region from LIS1 to the telomere. Using fluorescence in situ hybridization, we have mapped the deletion size in 19 children with ILS, 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. We show that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb. Using somatic cell hybrids from selected patients, we have identified eight genes that are consistently deleted in patients classified as having MDS. In addition, deletion of the genes CRK and 14-3-3ɛ delineates patients with the most severe lissencephaly grade. On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3ɛ in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches in the Australian and Portuguese setting, using an integrated clinical and molecular strategy. We report variants in the ARX gene detected in 19 patients belonging to 17 families. Seven pathogenic variants, being expansion mutations in both polyalanine tract 1 and tract 2, were identifyed, including a novel mutation in polyalanine tract 1 that expands the first tract to 20 alanines. This precise number of alanines is sufficient to cause pathogenicity when expanded in polyalanine tract 2. Five cases presented a probably non-pathogenic variant, including the novel HGVS: c.441_455del, classified as unlikely disease causing, consistent with reports that suggest that in frame deletions in polyalanine stretches of ARX rarely cause intellectual disability. In addition, we identified five cases with a variant of unclear pathogenic significance. Owing to the inconsistent ARX variants description, publications were reviewed and ARX variant classifications were standardized and detailed unambiguously according to recommendations of the Human Genome Variation Society. In the absence of a pathognomonic clinical feature, we propose that molecular analysis of the ARX gene should be included in routine diagnostic practice in individuals with either nonsyndromic or syndromic intellectual disability. A definitive diagnosis of ARX-related disorders is crucial for an adequate clinical follow-up and accurate genetic counseling of at-risk family members.Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP, Porto, Portugal was funded by FEDER funds of the Operational Program for Competitiveness Factors – COMPETE through FCT – Foundation for Science and Technology under the project: Fcomp-01-0124-FEDER-015896. The Neurogenetics research program in the Department of Paediatrics, University of Adelaide, Australia was funded by the Australian National Health and Medical Research Council (Grant No. 1063025). C. S. is supported Australian Research Council (Future Fellowship FT120100086

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs, and in combination with specific clinical features, such as Addison’s disease in Adrenoleukodystrophy or hypodontia in Pol-III related or 4H leukodystrophy, can often resolve a case with a minimum of testing. The diagnostic odyssey for the majority LD and gLE patients, however, remains extensive – many patients will wait nearly a decade for a definitive diagnosis and at least half will remain unresolved. The combination of MRI, careful clinical evaluation and next generation genetic sequencing holds promise for both expediting the diagnostic process and dramatically reducing the number of unresolved cases. Here we present a workflow detailing the Global Leukodystrophy Initiative (GLIA) consensus recommendations for an approach to clinical diagnosis, including salient clinical features suggesting a specific diagnosis, neuroimaging features and molecular genetic testing. We also discuss recommendations on the use of broad-spectrum next-generation sequencing in instances of ambiguous MRI or clinical findings. We conclude with a proposal for systematic trials of genome-wide agnostic testing as a first line diagnostic in LDs and gLEs given the increasing number of genes associated with these disorders

Source identification and distribution reveals the potential of the geochemical Antarctic sea ice proxy IPSO25

The presence of a di-unsaturated highly branched isoprenoid (HBI) lipid biomarker (diene II) in Southern Ocean sediments has previously been proposed as a proxy measure of palaeo Antarctic sea ice. Here we show that a source of diene II is the sympagic diatom Berkeleya adeliensis Medlin. Furthermore, the propensity for B. adeliensis to flourish in platelet ice is reflected by an offshore downward gradient in diene II concentration in >100 surface sediments from Antarctic coastal and near-coastal environments. Since platelet ice formation is strongly associated with super-cooled freshwater inflow, we further hypothesize that sedimentary diene II provides a potentially sensitive proxy indicator of landfast sea ice influenced by meltwater discharge from nearby glaciers and ice shelves, and re-examination of some previous diene II downcore records supports this hypothesis. The term IPSO25-Ice Proxy for the Southern Ocean with 25 carbon atoms-is proposed as a proxy name for diene II

A method for successful collection of multicores and gravity cores from Antarctic subglacial lakes

During the 2018–2019 Antarctic field season, the Subglacial Antarctic Lakes Scientific Access project team cleanly accessed Mercer Subglacial Lake, West Antarctica, to sample water and sediments beneath 1087 m of overlying ice. A multicorer was successful in sampling the sediment–water interface, with 4 deployments retrieving 10 cores between 0.3 and 0.4 m in length. Gravity coring was also successful, retrieving cores of 0.97 and 1.78 m in glacial diamict. However, sediment cores retrieved by the gravity cores were shorter than the core barrel penetration (as measured by mud streaks on the outside of the coring system), indicating that the system can likely be improved. This manuscript describes the design, implementation, successes, and lessons learned while coring sediments in a subglacial lake