Glacier fluctuations in the northern Patagonian Andes (44°S) imply wind-modulated interhemispheric in-phase climate shifts during Termination 1

The Last Glacial Termination (T1) featured major changes in global circulation systems that led to a shift from glacial to interglacial climate. While polar ice cores attest to an antiphased thermal pattern at millennial timescales, recent well-dated moraine records from both hemispheres suggest in-phase fluctuations in glaciers through T1, which is inconsistent with the bipolar see-saw paradigm. Here, we present a glacier chronology based on 30 new 10Be surface exposure ages from well-preserved moraines in the Lago Palena/General Vintter basin in northern Patagonia (~ 44°S). We find that the main glacier lobe underwent profound retreat after 19.7 ± 0.7 ka. This recessional trend led to the individualization of the Cerro Riñón glacier by ~ 16.3 ka, which underwent minor readvances at 15.9 ± 0.5 ka during Heinrich Stadial 1, during the Antarctic Cold Reversal with successive maxima at 13.5 ± 0.4, 13.1 ± 0.4, and 13.1 ± 0.5 ka, and a minor culmination at 12.5 ± 0.4 ka during Younger Dryas time. We conclude that fluctuations of Patagonian glaciers during T1 were controlled primarily by climate anomalies brought by shifts in the Southern Westerly Winds (SWW) locus. We posit that the global covariation of mountain glaciers during T1 was linked to variations in atmospheric CO2 (atmCO2) promoted by the interplay of the SWW-Southern Ocean system at millennial timescales.Fil: Soteres, Rodrigo L.. Universidad Católica de Chile; Chile. Pontificia Universidad Católica de Chile; ChileFil: Sagredo, Esteban A.. Pontificia Universidad Católica de Chile; Chile. Universidad Católica de Chile; ChileFil: Kaplan, Michael R.. Columbia University; Estados UnidosFil: Martini, Mateo Antonio. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Centro de Investigaciones en Ciencias de la Tierra. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas Físicas y Naturales. Centro de Investigaciones en Ciencias de la Tierra; Argentina. Pontificia Universidad Católica de Chile; ChileFil: Moreno, Patricio I.. Universidad de Chile; ChileFil: Reynhout, Scott A.. Universidad de Chile; ChileFil: Schwartz, Roseanne. Columbia University; Estados UnidosFil: Schaefer, Joerg M.. Columbia University; Estados Unido

Beryllium-10 Terrestrial Cosmogenic Nuclide Surface Exposure Dating of Quaternary Landforms in Death Valley

Quaternary alluvial fans, and shorelines, spits and beach bars were dated using 10Be terrestrial cosmogenic nuclide (TCN) surface exposure methods in Death Valley. The 10Be TCN ages show considerable variance on individual surfaces. Samples collected in the active channels date from ~ 6 ka to ~ 93 ka, showing that there is significant 10Be TCN inheritance within cobbles and boulders. This suggests that the predominantly bedrock hillslopes erode very slowly and sediment is transferred very gradually in most regions within Death Valley. Comparisons of 10Be TCN ages on alluvial fan surfaces with chronostratigraphies based on soil development and optically stimulated luminescence dating show that minimum 10Be TCN ages within sample sets on individual surfaces most closely approximate to the age of landforms that are younger than ~ 70 ka. Alluvial fan surfaces older than ~ 70 ka have begun to undergo sufficient erosion such that the majority of 10Be TCN ages for datasets on individual surfaces probably underestimate the true age of the surface due to erosion and exhumation of fresh cobbles and boulders. The spread of 10Be TCN ages for beach bars near Beatty Junction and shorelines ~ 8 km south of Furnace Creek is large, ranging from ~ 119 ka to ~ 385 ka and ~ 109 ka to ~ 465 ka, respectively. New and previously published luminescence ages and soil development suggest that these landforms may have formed during marine isotope stage (MIS) 2 (~ 22–18 ka), but these younger ages may reflect elluviation of material into the bar deposit long after deposition, and hence the younger ages do not record the true antiquity of the landforms. This disparity between dates determined by different dating methods and the large spread of TCN ages suggests that the cobbles and boulders have considerable inherited 10Be concentrations, suggesting that the clasts have been derived from older shorelines or associated landforms. These results highlight the problems associated with using surface cobbles and boulders to date Quaternary surfaces in Death Valley and emphasizes the need to combine multiple, different dating methods to accurately date landforms in similar dryland regions elsewhere in the world. However, these results highlight the potential to use TCN methods, when used in combination with other dating techniques, to examine and quantify processes such as sediment transfer and denudation in drylands

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Type 2A protein phosphatases (PP2As) are highly expressed in the brain and regulate neuronal signaling by catalyzing phospho-Ser/Thr dephosphorylations in diverse substrates. PP2A holoenzymes comprise catalytic C-, scaffolding A-, and regulatory B-type subunits, which determine substrate specificity and physiological function. Interestingly, de novo mutations in genes encoding A- and B-type subunits have recently been implicated in intellectual disability (ID) and developmental delay (DD). We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Cα subunit. Other frequently observed features were severe language delay (71%), hypotonia (69%), epilepsy (63%), and brain abnormalities such as ventriculomegaly and a small corpus callosum (67%). Behavioral problems, including autism spectrum disorders, were reported in 47% of individuals, and three individuals had a congenital heart defect. PPP2CA de novo mutations included a partial gene deletion, a frameshift, three nonsense mutations, a single amino acid duplication, a recurrent mutation, and eight non-recurrent missense mutations. Functional studies showed complete PP2A dysfunction in four individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation. Four were suspected to have a dominant-negative mechanism, which correlated with severe ID. Two missense variants affecting the same residue largely behaved as wild-type in our functional assays. Overall, we found that pathogenic PPP2CA variants impair PP2A-B56(δ) functionality, suggesting that PP2A-related neurodevelopmental disorders constitute functionally converging ID syndromes.status: publishe

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Type 2A protein phosphatases (PP2As) are highly expressed in the brain and regulate neuronal signaling by catalyzing phospho-Ser/Thr dephosphorylations in diverse substrates. PP2A holoenzymes comprise catalytic C-, scaffolding A-, and regulatory B-type subunits, which determine substrate specificity and physiological function. Interestingly, de novo mutations in genes encoding A- and B-type subunits have recently been implicated in intellectual disability (ID) and developmental delay (DD). We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Cα subunit. Other frequently observed features were severe language delay (71%), hypotonia (69%), epilepsy (63%), and brain abnormalities such as ventriculomegaly and a small corpus callosum (67%). Behavioral problems, including autism spectrum disorders, were reported in 47% of individuals, and three individuals had a congenital heart defect. PPP2CA de novo mutations included a partial gene deletion, a frameshift, three nonsense mutations, a single amino acid duplication, a recurrent mutation, and eight non-recurrent missense mutations. Functional studies showed complete PP2A dysfunction in four individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation. Four were suspected to have a dominant-negative mechanism, which correlated with severe ID. Two missense variants affecting the same residue largely behaved as wild-type in our functional assays. Overall, we found that pathogenic PPP2CA variants impair PP2A-B56(δ) functionality, suggesting that PP2A-related neurodevelopmental disorders constitute functionally converging ID syndromes

Erratum : De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (The American Journal of Human Genetics (2019) 104(1) (139–156), (S0002929718304531) (10.1016/j.ajhg.2018.12.002))

(The American Journal of Human Genetics 104, 139–156; January 3, 2019) In the original version of this article published on December 27, 2018, Maura R.Z. Ruzhnikov's surname was unfortunately misspelled. It appears correctly here and online. The authors apologize for the error