Vegetation phenology gradients along the west and east coasts of Greenland from 2001 to 2015

The objective of this paper is to characterize the spatiotemporal variations of vegetation phenology along latitudinal and altitudinal gradients in Greenland, and to examine local and regional climatic drivers. Time-series from the Moderate Resolution Imaging Spectroradiometer (MODIS) were analyzed to obtain various phenological metrics for the period 2001–2015. MODIS-derived land surface temperatures were corrected for the sampling biases caused by cloud cover. Results indicate significant differences between West and East Greenland, in terms of both observed phenology during the study period, as well as the climatic response. The date of the start of season (SOS) was significantly earlier (24 days), length of season longer (25 days), and time-integrated NDVI higher in West Greenland. The sea ice concentration during May was found to have a significant effect on the date of the SOS only in West Greenland, with the strongest linkage detected in mid-western parts of Greenland

Northern Hemisphere permafrost map based on TTOP modelling for 2000-2016 at 1 km²scale

Permafrost is a key element of the cryosphere and an essential climate variable in the Global Climate Observing System. There is no remote-sensing method available to reliably monitor the permafrost thermal state. To estimate permafrost distribution at a hemispheric scale, we employ an equilibrium state model for the temperature at the top of the permafrost (TTOP model) for the 2000–2016 period, driven by remotely-sensed land surface temperatures, down-scaled ERA-Interim climate reanalysis data, tundra wetness classes and landcover map from the ESA Landcover Climate Change Initiative (CCI) project. Subgrid variability of ground temperatures due to snow and landcover variability is represented in the model using subpixel statistics. The results are validated against borehole measurements and reviewed regionally. The accuracy of the modelled mean annual ground temperature (MAGT) at the top of the permafrost is ±2 °C when compared to permafrost borehole data. The modelled permafrost area (MAGT 0) is around 21 × 106 km2 (22% of exposed land area), which is approximately 2 × 106 km2 less than estimated previously. Detailed comparisons at a regional scale show that the model performs well in sparsely vegetated tundra regions and mountains, but is less accurate in densely vegetated boreal spruce and larch forests

The Mating-Type Chromosome in the Filamentous Ascomycete Neurospora tetrasperma Represents a Model for Early Evolution of Sex Chromosomes

We combined gene divergence data, classical genetics, and phylogenetics to study the evolution of the mating-type chromosome in the filamentous ascomycete Neurospora tetrasperma. In this species, a large non-recombining region of the mating-type chromosome is associated with a unique fungal life cycle where self-fertility is enforced by maintenance of a constant state of heterokaryosis. Sequence divergence between alleles of 35 genes from the two single mating-type component strains (i.e. the homokaryotic mat A or mat a-strains), derived from one N. tetrasperma heterokaryon (mat A+mat a), was analyzed. By this approach we were able to identify the boundaries and size of the non-recombining region, and reveal insight into the history of recombination cessation. The non-recombining region covers almost 7 Mbp, over 75% of the chromosome, and we hypothesize that the evolution of the mating-type chromosome in this lineage involved two successive events. The first event was contemporaneous with the split of N. tetrasperma from a common ancestor with its outcrossing relative N. crassa and suppressed recombination over at least 6.6 Mbp, and the second was confined to a smaller region in which recombination ceased more recently. In spite of the early origin of the first “evolutionary stratum”, genealogies of five genes from strains belonging to an additional N. tetrasperma lineage indicate independent initiations of suppressed recombination in different phylogenetic lineages. This study highlights the shared features between the sex chromosomes found in the animal and plant kingdoms and the fungal mating-type chromosome, despite fungi having no separate sexes. As is often found in sex chromosomes of plants and animals, recombination suppression of the mating-type chromosome of N. tetrasperma involved more than one evolutionary event, covers the majority of the mating-type chromosome and is flanked by distal regions with obligate crossovers

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

Febrile seizures represent the most common type of pathological brain activity in young children and are influenced by genetic, environmental and developmental factors. In a minority of cases, febrile seizures precede later development of epilepsy. We conducted a genome-wide association study of febrile seizures in 7635 cases and 83 966 controls identifying and replicating seven new loci, all with P < 5 x 10(-10). Variants at two loci were functionally related to altered expression of the fever response genes PTGER3 and IL10, and four other loci harboured genes (BSN, ERC2, GABRG2, HERC1) influencing neuronal excitability by regulating neurotransmitter release and binding, vesicular transport or membrane trafficking at the synapse. Four previously reported loci (SCN1A, SCN2A, ANO3 and 12q21.33) were all confirmed. Collectively, the seven novel and four previously reported loci explained 2.8% of the variance in liability to febrile seizures, and the single nucleotide polymorphism heritability based on all common autosomal single nucleotide polymorphisms was 10.8%. GABRG2, SCN1A and SCN2A are well-established epilepsy genes and, overall, we found positive genetic correlations with epilepsies (r(g) = 0.39, P = 1.68 x 10(-4)). Further, we found that higher polygenic risk scores for febrile seizures were associated with epilepsy and with history of hospital admission for febrile seizures. Finally, we found that polygenic risk of febrile seizures was lower in febrile seizure patients with neuropsychiatric disease compared to febrile seizure patients in a general population sample. In conclusion, this largest genetic investigation of febrile seizures to date implicates central fever response genes as well as genes affecting neuronal excitability, including several known epilepsy genes. Further functional and genetic studies based on these findings will provide important insights into the complex pathophysiological processes of seizures with and without fever.Peer reviewe

Northern Hemisphere permafrost map based on TTOP modelling for 2000–2016 at 1 km2 scale

Permafrost is a key element of the cryosphere and an essential climate variable in the Global Climate Observing System. There is no remote-sensing method available to reliably monitor the permafrost thermal state. To estimate permafrost distribution at a hemispheric scale, we employ an equilibrium state model for the temperature at the top of the permafrost (TTOP model) for the 2000–2016 period, driven by remotely- sensed land surface temperatures, down-scaled ERA-Interim climate reanalysis data, tundra wetness classes and landcover map from the ESA Landcover Climate Change Initiative (CCI) project. Subgrid variability of ground temperatures due to snow and landcover variability is represented in the model using subpixel statistics. The results are validated against borehole measurements and reviewed regionally. The accuracy of the modelled mean annual ground temperature (MAGT) at the top of the permafrost is ±2 °C when compared to permafrost borehole data. The modelled permafrost area (MAGT 0) is around 21 × 106 km2 (22% of exposed land area), which is approximately 2 × 106 km2 less than estimated previously. Detailed comparisons at a regional scale show that the model performs well in sparsely vegetated tundra regions and mountains, but is less accurate in densely vegetated boreal spruce and larch forests

Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth

A well-functioning placenta is essential for fetal and maternal health throughout pregnancy. Using placental weight as a proxy for placental growth, we report genome-wide association analyses in the fetal (n = 65,405), maternal (n = 61,228) and paternal (n = 52,392) genomes, yielding 40 independent association signals. Twenty-six signals are classified as fetal, four maternal and three fetal and maternal. A maternal parent-of-origin effect is seen near KCNQ1. Genetic correlation and colocalization analyses reveal overlap with birth weight genetics, but 12 loci are classified as predominantly or only affecting placental weight, with connections to placental development and morphology, and transport of antibodies and amino acids. Mendelian randomization analyses indicate that fetal genetically mediated higher placental weight is causally associated with preeclampsia risk and shorter gestational duration. Moreover, these analyses support the role of fetal insulin in regulating placental weight, providing a key link between fetal and placental growth

Genome-wide association study of placental weight in 65,405 newborns and 113,620 parents reveals distinct and shared genetic influences between placental and fetal growth

A well-functioning placenta is essential for fetal and maternal health throughout pregnancy. Using placental weight as a proxy for placental growth, we report genome-wide association analyses in the fetal (n = 65,405), maternal (n = 61,228) and paternal (n = 52,392) genomes, yielding 40 independent association signals. Twenty-six signals are classified as fetal, four maternal and three fetal and maternal. A maternal parent-of-origin effect is seen near KCNQ1. Genetic correlation and colocalization analyses reveal overlap with birth weight genetics, but 12 loci are classified as predominantly or only affecting placental weight, with connections to placental development and morphology, and transport of antibodies and amino acids. Mendelian randomization analyses indicate that fetal genetically mediated higher placental weight is causally associated with preeclampsia risk and shorter gestational duration. Moreover, these analyses support the role of fetal insulin in regulating placental weight, providing a key link between fetal and placental growth