Mosaicism in clinical genetics

Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al. (Cold Spring Harb Mol Case Studies7: a006125 [2021]) is discussed.

Mosaicism and the taxonomy of human disease

Two papers in this special issue of Cold Spring Harbor Molecular Case Studies on Mosaicism throw light on an interesting conundrum in mosaic disorders. This conundrum centers on thresholds for the definition of mosaic disorders and how to reconcile the incredible inter- and intrapatient variability of mosaic disorders with the clinical imperative to have clear and distinct categorical diagnoses.

The Colonization of a Cold Spring Ecosystem by the Invasive Species Potamopyrgus Antipodarum (Gray, 1843) (Gastropoda: Tateidae) (Southern Poland)

Springs are unique aquatic environments that support specific biota, including endemic species and rare species listed in Red Lists. Due to their usually small size, springs are highly sensitive to disturbance. Many of them are threatened by aquifer depletion, contamination, surface-water diversion, livestock trampling, recreation, and invasive species. The aim of this study was to assess the colonization success of the invasive New Zealand mud snail (Potamopyrgus antipodarum) in a cold spring ecosystem in southern Poland. In Europe, this species has recently been added to the top “hundred worst” alien species due to its impact on invaded ecosystems. The study was carried out in two areas of the spring ecosystem—in the springhead and the springbrook—over a four-year period. Potamopyrus antipodarum dominated the benthic macroinvertebrate communities in both areas of the spring ecosystem. Nevertheless, its abundance in the springbrook was significantly greater, and increased noticeably during subsequent years compared to that in the springhead. The populations of P. antipodarum were exclusively composed of females. Smaller-sized New Zealand mudsnails were more abundant near the spring’s source than at the second site. The females at the springhead became fecund at sizes as small as 3.7 mm (the number of embryos was between 0 and 37), while at the springbrook, embryos were found in snails as small as 3.4 mm (the number of embryos was between 0 and 42). Our results suggest that the lower water temperature at the springhead may limit the population size of P. antipodarum, thus making its density too low to be able to affect the community structure of benthic macroinvertebrates, including the spring snail Bythinella cf. austriaca.

Open science, data sharing and solidarity: who benefits?

Research, innovation, and progress in the life sciences are increasingly contingent on access to large quantities of data. This is one of the key premises behind the “open science” movement and the global calls for fostering the sharing of personal data, datasets, and research results. This paper reports on the outcomes of discussions by the panel “Open science, data sharing and solidarity: who benefits?” held at the 2021 Biennial conference of the International Society for the History, Philosophy, and Social Studies of Biology (ISHPSSB), and hosted by Cold Spring Harbor Laboratory (CSHL).

Effect of pH on Photosynthesis of Euglena mutabilis Schmitz, an Acidophilic Benthic Flagellate

The dependence of the photosynthetic rate of Euglena mutabilis Schmitz on pH across a range of 2.0–10.0 was investigated. Populations of E. mutabilis isolated from sediments of acidic mine drainage in Sensui (pH = 3.95) and a volcanic cold spring in Bougatsuru (pH = 5.32) were cultured in a pH-adjusted growth media for 96 h, and photosynthetic rate and dark respiration rate were measured. The maximum gross photosynthetic rate of E. mutabilis cells from the Sensui drainage population did not vary significantly over the pH range of 2.0–7.0, and their dark respiration rate showed high values at pH = 7.0. The maximum gross photosynthetic rate of E. mutabilis cells from the Bougatsuru spring population did not vary significantly within the pH range of 2.0–6.0, and their dark respiration rate tended to show high values at pH = 7.0. E. mutabilis can colonize under circumneutral conditions up to and including pH = 6.0.

Vascular plants– phyto-indicators of geoactive zones in mountains and plains

The research was conducted in the Perm Region. Geo-structural analysis, phyto-indication, and biolocationwere used. Prior to this, forest ecosystems were studied by classical methods, in which it was found that the combinedinfluence of the density of microcenosis and the tree genotype determines the size of trees by only 40 %. It follows that 60%of the factors that determine the size of trees in different phytocenotic and soil conditions remain unknown. Therefore,we then began to study small geoactive zones (MGA-zones) with the hypothesis that they are related to the “small ringstructures of loose deposits of the earth’s crust” by Yu. I. Fivensky. Favorable MGA zones with a size of 1.0-3.0 m are foundwith a frequency of 220-250 pcs./ha and the pine tree is preserved 39 times better, increases the trunk volume by 46 %,forms 200-year-old forests, and its large trees are their indicators. Networks of them can be used as an energy frameworkand, for example, in a forest nursery, their energy in the conditions of cold spring increased the germination of spruceseeds by 7 times. Apparently, the forest species evolved using the energies of these zones; in any case, all the tree species westudied significantly increased their longevity and size. It shows promising sites with structures of Yu. I. Fivensky, whererings of hellebore (Verátrum lobeliánum Bernh.), fern (Dryopteris filix mas L.), and the highest trees of Siberian spruce(Picea obovate Leded) were previously discovered for the first time.) and Siberian cedar pine (Pinus sibirica Du Tour).

Love in the Laboratory

This chapter describes the marriage of two prodigies and how it represented a fruitful alliance of complementary research personalities: the brilliant theoretician and the skillful experimenter. Esther Zimmer and Joshua Lederberg were two of the youngest scientists to attend the 1946 summer symposium at Cold Spring Harbor. Edward Tatum arranged for his protégé, young Lederberg, to present his stupendous discovery of bacterial conjugation, showing that bacteria could mate and recombine their genes. Zimmer and Lederberg began a short romance and married five months later. The young couple moved near the campus of Yale University, where Joshua wrote up his thesis and Esther researched Neurospora genetics with Norman Giles. The following summer, Tatum negotiated with Yale to grant an accelerated PhD to Joshua. The University of Wisconsin offered him an assistant professorship, and Joshua and Esther moved to Madison in 1947. There they established the first research program in bacterial genetics.

Hydrogeochemical Characteristics and Formation of Low-Temperature Geothermal Waters in Mangbang-Longling Area of Western Yunnan, China

Numerous low-temperature geothermal waters are distributed extensively in Mangbang-Longling of western Yunnan in China, whose formation mechanism has not been completely investigated yet. This study focused on the hydrogeochemical evolution, reservoir temperature, and recharge origin of geothermal waters using hydrogeochemical and deuterium-oxygen (D-O) isotopic studies. The low-temperature geothermal waters were characterized by HCO3-Na type, while shallow cold spring was of the hydrochemical type of HCO3-Ca. The hydrogeochemical characteristics of low-temperature geothermal waters were mainly determined by the dissolution of silicate minerals based on the geological condition and correlations of major and minor ions. The reservoir temperatures of low-temperature geothermal waters ranged from 111°C to 126°C estimated by silica geothermometry and the silicon-enthalpy graphic method. Low-temperature geothermal waters circulated at the largest depth of 1794–2077 m where deep high-temperature geothermal waters were involved. The data points of δD and δ18O of the hot spring water samples in the study area show a linear right-up trend, indicating the δ18O reaction between the water and rock and a possible mixture of magmatic water from below. The low-temperature thermal waters were recharged by meteoric water at the elevation of 2362–3653 m calculated by δD values. Upwelling by heating energy, low-temperature geothermal waters were exposed as geothermal springs in the fault and fracture intersection and mixed by up to 72% shallow cold waters at surface. Based on acquired data, a conceptual model of the low-temperature geothermal waters in the Mangbang-Longling area was proposed for future exploitation.

Future climate risk to UK agriculture from heat and humidity changes

<p>Assessments of current and future climate risk are required for adaptation planning to increase resilience and enable society to cope with future climate hazards. Here we identify case studies of compound hazard (involving heat and humidity) events of interest to the UK agricultural sector and present a framework for comparing the frequency and duration of compound events now to those projected in 50 years’ time. We use high resolution (12 km) simulations from the UK Climate Projections to explore how the frequency and duration of instances of potato blight and thermal heat stress to dairy cattle may change locally under RCP 8.5 emissions forcing. We combine hazard (temperature and humidity data) with vulnerability (specific threshold exceedance) and exposure (regional dairy cattle numbers/potato growing area) to estimate risk. Regions where most potatoes are grown, and where the potato blight risk is greatest in both the current and future climate, include the East of England, Yorkshire and the Humber and Eastern Scotland. By 2070, potato blight occurrences may increase by 70 % in East Scotland and between 20 - 30 % across the East of England, the Midlands and Yorkshire and the Humber. Assuming dairy cattle spatial distributions remain the same, the area of greatest risk now and in the future is South West England, with notable increases in risk across Northern Ireland, Wales, the Midlands, North West England and North West Scotland. Dairy cattle heat stress (using a temperature-humidity index) is projected to increase by over 1000 % in South West England, the region with the most dairy cattle. Finally, we consider projected changes to UK seasons, using 2018 as a template, where a cold spring followed by a warm/dry summer resulted in hay/silage shortages. In addition to reduced crop yields in 2018, cattle were kept inside for longer in the cold spring and in the warm/dry summer, due to heat stress and poor grass quality. UK Climate Projections indicate that the annual probability of cold spring/warm summer conditions will decrease in future, but the annual probability of longer dry/warm summers will increase. We conclude that the agricultural sector should consider suitable climate adaptation measures to minimise the risk of dairy cattle thermal heat stress, increased potato blight, and longer dry/warm summer conditions.</p>