11 research outputs found
Climate‐driven spatial and temporal patterns in peatland pool biogeochemistry
Peatland pools are freshwater bodies that are highly dynamic aquatic ecosystems because of their small size and their development in organic-rich sediments. However, our ability to understand and predict their contribution to both local and global biogeochemical cycles under rapidly occurring environmental change is limited because the spatiotemporal drivers of their biogeochemical patterns and processes are poorly understood. We used (1) pool biogeochemical data from 20 peatlands in eastern Canada, the United Kingdom, and southern Patagonia and (2) multi-year data from an undisturbed peatland of eastern Canada, to determine how climate and terrain features drive the production, delivering and processing of carbon (C), nitrogen (N), and phosphorus (P) in peatland pools. Across sites, climate (24%) and terrain (13%) explained distinct portions of the variation in pool biogeochemistry, with climate driving spatial differences in pool dissolved organic C (DOC) concentration and aromaticity. Within the multi-year dataset, DOC, carbon dioxide (CO2), total N concentrations, and DOC aromaticity were highest in the shallowest pools and at the end of the growing seasons, and increased gradually from 2016 to 2021 in relation to a combination of increases in summer precipitation, mean air temperature for the previous fall, and number of extreme summer heat days. Given the contrasting effects of terrain and climate, broad-scale terrain characteristics may offer a baseline for the prediction of small-scale pool biogeochemistry, while broad-scale climate gradients and relatively small year-to-year variations in local climate induce a noticeable response in pool biogeochemistry. These findings emphasize the reactivity of peatland pools to both local and global environmental change and highlight their potential to act as widely distributed climate sentinels within historically relatively stable peatland ecosystems
A de novo paradigm for male infertility
Genetics of Male Infertility Initiative (GEMINI) consortium: Donald F. Conrad, Liina Nagirnaja, Kenneth I. Aston, Douglas T. Carrell, James M. Hotaling, Timothy G. Jenkins, Rob McLachlan, Moira K. O’Bryan, Peter N. Schlegel, Michael L. Eisenberg, Jay I. Sandlow, Emily S. Jungheim, Kenan R. Omurtag, Alexandra M. Lopes, Susana Seixas, Filipa Carvalho, Susana Fernandes, Alberto Barros, João Gonçalves, Iris Caetano, Graça Pinto, Sónia Correia, Maris Laan, Margus Punab, Ewa Rajpert-De Meyts, Niels Jørgensen, Kristian Almstrup, Csilla G. Krausz & Keith A. Jarvi.De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness.
We hypothesize that de novo mutations play an important role in severe male infertility and
explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we
utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents.
Following a systematic analysis, 29 of 145 rare (MAF < 0.1%) protein-altering de novo mutations
are classified as possibly causative of the male infertility phenotype. We observed a significant
enrichment of loss-of-function de novo mutations in loss-of-function-intolerant genes (p-value =
1.00 × 10−5) in infertile men compared to controls. Additionally, we detected a significant
increase in predicted pathogenic de novo missense mutations affecting missense-intolerant genes
(p-value = 5.01 × 10−4) in contrast to predicted benign de novo mutations. One gene we identify,
RBM5, is an essential regulator of male germ cell pre-mRNA splicing and has been previously
implicated in male infertility in mice. In a follow-up study, 6 rare pathogenic missense mutations
affecting this gene are observed in a cohort of 2,506 infertile patients, whilst we find no such
mutations in a cohort of 5,784 fertile men (p-value = 0.03). Our results provide evidence for the
role of de novo mutations in severe male infertility and point to new candidate genes affecting
fertility.This project was funded by The Netherlands Organization for Scientific Research (918-15-667) to J.A.V. as well as an Investigator Award in Science from the Wellcome Trust (209451) to J.A.V. a grant from the Catherine van Tussenbroek Foundation to M.S.O. a grant from MERCK to R.S. a UUKi Rutherford Fund Fellowship awarded to B.J.H. and the German Research Foundation Clinical Research Unit “Male Germ Cells” (DFG, CRU326) to C.F. and F.T. This project was also supported in part by funding from the Australian National Health and Medical Research Council (APP1120356) to M.K.O.B., by grants from the National Institutes of Health of the United States of America (R01HD078641 to D.F.C. and K.I.A., P50HD096723 to D.F.C.) and from the Biotechnology and Biological Sciences Research Council (BB/S008039/1) to D.J.E.info:eu-repo/semantics/publishedVersio
Investigating late holocene climate variability in central mexico using carbon isotope ratios in organic materials and oxygen isotope ratios from diatom silica within lacustrine sediments
Previous studies have shown that moisture availability in the central highlands of Mexico during the last 3000 years has been highly variable, but evidence remains ambiguous since the climatic signal is partially masked by that of human activity. Here we use two isotope systems to provide evidence for environmental change in Laguna Zacapu, Michoacán covering this time period. Carbon isotope ratios of organic material suggest that there have been fluctuations in the carbon pool related to plant productivity, possibly as a result of changes in the abundance of aquatic plants around the lake margins. The drainage basin and lake have been managed intensively during the 20th century. Lake level apparently fell during the early part of the century, but has been artificially controlled since the 1950s. The oxygen isotope ratios from diatom silica should provide the more unambiguous climate signal, although we show that the interpretation of the diatom oxygen isotope record is far from straight forward. Zacapu is a spring-fed, non-evaporating system and changes in δ18Odiatom are likely to be a function of changes in δ18O of precipitation, due to either temperature and salinity variation in the Gulf of Mexico (associated with changes in the Bond cycles from the North Atlantic or the Loop current from the Carribean) and/or changing moisture contributions from different air masses (Gulf of Mexico vs. Pacific). Changes in the Gulf of Mexico are possibly at a resolution comparable to the periodicity we see in the δ18Odiatom record, although without better dating the comparison is speculative