Hydrological and biogeochemical cycling along the Greenland ice sheet margin

Submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy at the Massachusetts Institute of Technology and the Woods Hole Oceanographic Institution February 2012Global warming has led to a significant increase in Greenland ice sheet (GrIS) melt and runoff since 1990, resulting in escalated export of fresh water and associated sediment to the surrounding North Atlantic and Arctic Oceans. Similar to alpine glacial systems, surface meltwater on ice sheet surface drains to the base (subglacial) where it joins a drainage system and can become chemically enriched from its origin as dilute snow- and ice-melt. In this thesis, I examine the interdependence of glacial hydrology and biogeochemical cycling in terms of export of carbon and iron from the Greenland ice sheet. I develop a new isotope mixing-model to quantify water source contributions to the bulk meltwater discharge draining a GrIS outlet glacier. Results illustrate (a) the new application of a naturally occurring radioisotope (radon-222) as a quantitative tracer for waters stored at the glacier bed, and (b) the seasonal evolution of the subglacial drainage network from a delayed-flow to a quick-flow system. Model results also provide the necessary hydrological context to interpret and quantify glacially-derived organic carbon and iron fluxes. I combine bulk- and molecular-level studies of subglacial organic carbon to show that GrIS discharge exports old (radiocarbon depleted), labile organic matter. Similar investigations of dissolved and particulate iron reveal that GrIS discharge may be a significant flux of labile iron to the North Atlantic Ocean during the summer meltseason. Both carbon and iron are subject to proglacial processing prior to export to the marine environment, and exhibit strong seasonal variability in correlation with the subglacial drainage evolution. Low, chemically concentrated fluxes characterize the spring discharge, whereas higher, chemically dilute fluxes typify the summer discharge. Collectively, this thesis provides some of the first descriptions and flux estimates of carbon and iron, key elements in ocean biogeochemical cycles, in GrIS meltwater runoff.This research was supported the WHOI Arctic Research Initiative (EBK, SBD, MAC), the National Science Foundation (EBK, SBD), NASA (SBD), a National Science and Engineering Research Council of Canada Postgraduate Doctoral Fellowship (MPB), an American Geophysical Union Horton Hydrology Award (MPB), the Ocean Ventures Fund (MPB), and the WHOI Climate Change Institute (MPB)

Effect of carbon addition and predation on acetate-assimilating bacterial cells in groundwater

Author Posting. © The Author(s), 2009. This is the author's version of the work. It is posted here by permission of Blackwell for personal use, not for redistribution. The definitive version was published in FEMS Microbiology Ecology 70 (2009): 456-470, doi:10.1111/j.1574-6941.2009.00767.x.Groundwater microbial community dynamics are poorly understood due to the challenges associated with accessing subsurface environments. In particular, microbial interactions and their impact on the subsurface carbon cycle remain unclear. In the present project, stable isotope probing with uniformly-labeled [13C]-acetate was used to identify metabolically-active and inactive bacterial populations based on their ability to assimilate acetate and/or its metabolites. Furthermore, we assessed whether substrate availability (bottom-up control) or grazing mortality (top-down control) played a greater role in shaping bacterial community composition by separately manipulating the organic carbon supply and the protozoan grazer population. A community fingerprinting technique, Terminal Restriction Fragment Length Polymorphism (T-RFLP), revealed that the bacterial community was not affected by changes in acetate availability but was significantly altered by the removal of protozoan grazers. In silico identification of terminal restriction fragments and 16S rDNA sequences from clone libraries revealed a bacterial community dominated by Proteobacteria, Firmicutes, and Bacteroidetes. Elucidation of the factors that structure the bacterial community will improve our understanding of the bacterial role in the carbon cycle of this important subterranean environment.Funding was provided by NSF grant EAR-0525166 to EBK and the WHOI Summer Student Fellowship Program to ADC

Continuous summer export of nitrogen-rich organic matter from the Greenland Ice Sheet inferred by ultrahigh resolution mass spectrometry

Runoff from glaciers and ice sheets has been acknowledged as a potential source of bioavailable dissolved organic matter (DOM) to downstream ecosystems. This source may become increasingly significant as glacial melt rates increase in response to future climate change. Recent work has identified significant concentrations of bioavailable carbon and iron in Greenland Ice Sheet (GrIS) runoff. The flux characteristics and export of N-rich DOM are poorly understood. Here, we employed electrospray ionization (ESI) coupled to Fourier transform ion cyclotron resonance mass spectrometry (FT-ICR MS) to determine the elemental compositions of DOM molecules in supraglacial water and subglacial runoff from a large GrIS outlet glacier. We provide the first detailed temporal analysis of the molecular composition of DOM exported over a full melt season. We find that DOM pools in supraglacial and subglacial runoff are compositionally diverse and that N-rich material is continuously exported throughout the melt season as the snowline retreats further inland. Identification of protein-like compounds and a high proportion of N-rich DOM, accounting for 27-41% of the DOM molecules identified by ESI FT-ICR MS, may suggest a microbial provenance and high bioavailability of glacially-exported DOM to downstream microbial communities

Fracture propagation to the base of the Greenland Ice Sheet during supraglacial lake drainage

Author Posting. © The Authors, 2008. This is the author's version of the work. It is posted here by permission of American Association for the Advancement of Science for personal use, not for redistribution. The definitive version was published in Science 320 (2008): 778-781, doi:10.1126/science.1153360.Surface meltwater that reaches the base of an ice sheet creates a mechanism for the rapid response of ice flow to climate change. The process whereby such a pathway is created through thick, cold ice has not, however, been previously observed. We describe the rapid (<2 hours) drainage of a large supraglacial lake down 980 m through to the bed of the Greenland Ice Sheet initiated by water-driven fracture propagation evolving into moulin flow. Drainage coincided with increased seismicity, transient acceleration, ice sheet uplift and horizontal displacement. Subsidence and deceleration occurred over the following 24 hours. The short-lived dynamic response suggests an efficient drainage system dispersed the meltwater subglacially. The integrated effect of multiple lake drainages could explain the observed net regional summer ice speedup.Support was provided jointly by NSF and NASA through ARC-0520077 (S.B.D., M.P.B., I.M.H.) and ARC- 520382 (I.J.); The WHOI OCCI and Clark Arctic Research Initiative provided additional support to S.B.D., M.D.B., and D.L.; and a NERC (UK) Research Fellowship supported M.A.K

Pathway-centric analysis of microbial metabolic potential and expression along nutrient and energy gradients in the western Atlantic Ocean

© The Author(s), 2022. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Cavaco, M. A., Bhatia, M. P., Hawley, A. K., Torres-Beltran, M., Johnson, W. M., Longnecker, K., Konwar, K., Kujawinski, E. B., & Hallam, S. J. Pathway-centric analysis of microbial metabolic potential and expression along nutrient and energy gradients in the western Atlantic Ocean. Frontiers in Marine Science, 9, (2022): 867310, https://doi.org/10.3389/fmars.2022.867310.Microbial communities play integral roles in driving nutrient and energy transformations in the ocean, collectively contributing to fundamental biogeochemical cycles. Although it is well known that these communities are stratified within the water column, there remains limited knowledge of how metabolic pathways are distributed and expressed. Here, we investigate pathway distribution and expression patterns from surface (5 m) to deep dark ocean (4000 m) at three stations along a 2765 km transect in the western South Atlantic Ocean. This study is based on new data, consisting of 43 samples for 16S rRNA gene sequencing, 20 samples for metagenomics and 19 samples for metatranscriptomics. Consistent with previous observations, we observed vertical zonation of microbial community structure largely partitioned between light and dark ocean waters. The metabolic pathways inferred from genomic sequence information and gene expression stratified with depth. For example, expression of photosynthetic pathways increased in sunlit waters. Conversely, expression of pathways related to carbon conversion processes, particularly those involving recalcitrant and organic carbon degradation pathways (i.e., oxidation of formaldehyde) increased in dark ocean waters. We also observed correlations between indicator taxa for specific depths with the selective expression of metabolic pathways. For example, SAR202, prevalent in deep waters, was strongly correlated with expression of the methanol oxidation pathway. From a biogeographic perspective, microbial communities along the transect encoded similar metabolic potential with some latitudinal stratification in gene expression. For example, at a station influenced by input from the Amazon River, expression of pathways related to oxidative stress was increased. Finally, when pairing distinct correlations between specific particulate metabolites (e.g., DMSP, AMP and MTA) and both the taxonomic microbial community and metatranscriptomic pathways across depth and space, we were able to observe how changes in the marine metabolite pool may be influenced by microbial function and vice versa. Taken together, these results indicate that marine microbial communities encode a core repertoire of widely distributed metabolic pathways that are differentially regulated along nutrient and energy gradients. Such pathway distribution patterns are consistent with robustness in microbial food webs and indicate a high degree of functional redundancy.This work was funded by the NSF Division of Ocean Sciences (Grant no. OCE-1154320 to EK and KL) and a small (“Microbial controls on marine organic carbon cycling”) and large (“Marine microbial communities from the Southern Atlantic Ocean transect to study dissolved organic matter and carbon cycling”) community sequencing grants from the Joint Genome Institute (US Department of Energy, Walnut Creek, CA) to SH and MB. MB was supported by an NSERC post-doctoral fellowship and a CIFAR Global Scholars fellowship. MC was supported by a Campus Alberta Innovates Program (CAIP) chair to MB

Metabolite composition of sinking particles differs from surface suspended particles across a latitudinal transect in the South Atlantic

© The Author(s), 2019. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in [citation], doi:[doi]. Johnson, W. M., Longnecker, K., Soule, M. C. K., Arnold, W. A., Bhatia, M. P., Hallam, S. J., Van Mooy, B. A. S., & Kujawinski, E. B. Metabolite composition of sinking particles differs from surface suspended particles across a latitudinal transect in the South Atlantic. Limnology and Oceanography, (2019), doi:10.1002/lno.11255.Marine sinking particles transport carbon from the surface and bury it in deep‐sea sediments, where it can be sequestered on geologic time scales. The combination of the surface ocean food web that produces these particles and the particle‐associated microbial community that degrades them creates a complex set of variables that control organic matter cycling. We use targeted metabolomics to characterize a suite of small biomolecules, or metabolites, in sinking particles and compare their metabolite composition to that of the suspended particles in the euphotic zone from which they are likely derived. These samples were collected in the South Atlantic subtropical gyre, as well as in the equatorial Atlantic region and the Amazon River plume. The composition of targeted metabolites in the sinking particles was relatively similar throughout the transect, despite the distinct oceanic regions in which they were generated. Metabolites possibly derived from the degradation of nucleic acids and lipids, such as xanthine and glycine betaine, were an increased mole fraction of the targeted metabolites in the sinking particles relative to surface suspended particles, while algal‐derived metabolites like the osmolyte dimethylsulfoniopropionate were a smaller fraction of the observed metabolites on the sinking particles. These compositional changes are shaped both by the removal of metabolites associated with detritus delivered from the surface ocean and by production of metabolites by the sinking particle‐associated microbial communities. Furthermore, they provide a basis for examining the types and quantities of metabolites that may be delivered to the deep sea by sinking particles.The authors would like to thank the captain and crew of the R/V Knorr and R/V Atlantic Explorer, as well as Justin Ossolinski, Catherine Carmichael, and Sean Sylva for helping to make this data set possible. Special thanks to Colleen Durkin for sharing her data and providing feedback on the manuscript. Funding for this work came from the National Science Foundation (NSF Grant OCE‐1154320 to EBK and KL) and a WHOI Ocean Ventures Fund award to WMJ. The instruments in the WHOI FT‐MS Facility were purchased with support from the Gordon & Betty Moore Foundation and NSF. Support for WMJ was provided by a National Defense Science and Engineering Fellowship. Sequencing was performed under the auspices of the US Department of Energy (DOE) JGI Community Science Program (CSP) project (CSP 1685) supported by the Office of Science of US DOE Contract DE‐AC02‐ 05CH11231. Additional work related to sample collection and processing was supported by the G. Unger Vetlesen and Ambrose Monell Foundations, the Natural Sciences and Engineering Research Council of Canada (NSERC), the Canadian Institute for Advanced Study (CIFAR), and the Canada Foundation for Innovation through grants awarded to SJH. MPB was supported by a CIFAR Global Scholarship and NSERC postdoctoral fellowship

Pediatric Cushing disease: disparities in disease severity and outcomes in the Hispanic and African-American populations.

BackgroundLittle is known about the contribution of racial and socioeconomic disparities to severity and outcomes in children with Cushing disease (CD).MethodsA total of 129 children with CD, 45 Hispanic/Latino or African-American (HI/AA) and 84 non-Hispanic White (non-HW), were included in this study. A 10-point index for rating severity (CD severity) incorporated the degree of hypercortisolemia, glucose tolerance, hypertension, anthropomorphic measurements, disease duration, and tumor characteristics. Race, ethnicity, age, gender, local obesity prevalence, estimated median income, and access to care were assessed in regression analyses of CD severity.ResultsThe mean CD severity in the HI/AA group was worse than that in the non-HW group (4.9±2.0 vs. 4.1±1.9, P=0.023); driving factors included higher cortisol levels and larger tumor size. Multiple regression models confirmed that race (P=0.027) and older age (P=0.014) were the most important predictors of worse CD severity. When followed up a median of 2.3 years after surgery, the relative risk for persistent CD combined with recurrence was 2.8 times higher in the HI/AA group compared with that in the non-HW group (95% confidence interval: 1.2-6.5).ConclusionOur data show that the driving forces for the discrepancy in severity of CD are older age and race/ethnicity. Importantly, the risk for persistent and recurrent CD was higher in minority children

Molecular characterization of dissolved organic matter associated with the Greenland ice sheet

Author Posting. © The Author(s), 2010. This is the author's version of the work. It is posted here by permission of Elsevier B.V. for personal use, not for redistribution. The definitive version was published in Geochimica et Cosmochimica Acta 74 (2010): 3768-3784, doi:10.1016/j.gca.2010.03.035.Subsurface microbial oxidation of overridden soils and vegetation beneath glaciers and ice sheets may affect global carbon budgets on glacial-interglacial timescales. The likelihood and magnitude of this process depends on the chemical nature and reactivity of the subglacial organic carbon stores. We examined the composition of carbon pools associated with different regions of the Greenland ice sheet (subglacial, supraglacial, proglacial) in order to elucidate the type of dissolved organic matter (DOM) present in the subglacial discharge over a melt season. Electrospray ionization (ESI) Fourier transform ion cyclotron resonance (FT-ICR) mass spectrometry coupled to multivariate statistics permitted unprecedented molecular level characterization of this material and revealed that carbon pools associated with discrete glacial regions are comprised of different compound classes. Specifically, a larger proportion of protein-like compounds were observed in the supraglacial samples and in the early melt season (spring) subglacial discharge. In contrast, the late melt season (summer) subglacial discharge contained a greater fraction of lignin-like and other material presumably derived from underlying vegetation and soil. These results suggest (1) that the majority of supraglacial DOM originates from autochthonous microbial processes on the ice sheet surface, (2) that the subglacial DOM contains allochthonous carbon derived from overridden soils and vegetation as well as autochthonous carbon derived from in situ microbial metabolism, and (3) that the relative contribution of allochthonous and autochthonous material in subglacial discharge varies during the melt season. These conclusions are consistent with the hypothesis that, given sufficient time (e.g., overwinter storage), resident subglacial microbial communities may oxidize terrestrial material beneath the Greenland ice sheet.This research was supported by: the National Science Foundation (CAREER-OCE- 0529101 (EBK), ARC-0520077 (SBD)), National Atmospheric and Space Administration (SBD), the WHOI Clark Arctic Research Initiative (EBK, SBD, MAC), the WHOI Ocean Ventures Fund (MPB), and the National and Science Engineering Research Council of Canada (MPB)

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.Funding for the project was provided by the Wellcome Trust for UK10K (WT091310) and DDD Study. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003] - see www.ddduk.org/access.html for full acknowledgement. This work was supported in part by the Intramural Research Program of the National Human Genome Research Institute and the Common Fund, NIH Office of the Director. This work was supported in part by the German Ministry of Research and Education (grant nos. 01GS08160 and 01GS08167; German Mental Retardation Network) as part of the National Genome Research Network to A.R. and D.W. and by the Deutsche Forschungsgemeinschaft (AB393/2-2) to A.R. Brain expression data was provided by the UK Human Brain Expression Consortium (UKBEC), which comprises John A. Hardy, Mina Ryten, Michael Weale, Daniah Trabzuni, Adaikalavan Ramasamy, Colin Smith and Robert Walker, affiliated with UCL Institute of Neurology (J.H., M.R., D.T.), King’s College London (M.R., M.W., A.R.) and the University of Edinburgh (C.S., R.W.)

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection