Molecular diagnostic tests for thrombophilia in patients referred to genetic counseling clinic because due to recurrent pregnancy failure. One center’s experience.

The loss of three or more subsequent pregnancies before the end of the 22nd week is observed in 0.4–1% of women. Despite great advances in medicine, the causes of pregnancy failure (miscarriages, missed abortions and stillbirths), and the birth of a child or children with congenital abnormalities, are still not determined precisely. The aim: The purpose of the research was to determine the association of polymorphisms and mutations of coagulation factors II and V genes, as well as methylenetethrahydrofolate reductase (MTHFR) gene polymorphism, with the course of pregnancy and the type of reproductive failure. Methods: The research was performed in a group of 116 women referred to the Genetic Outpatient Clinic of the NCU SM in Bydgoszcz between 2009–2010 due to reproductive failures. The molecular tests for thrombophilia, i.e. mutation of the factor V Leiden, prothrombin gene mutation 20210G>A, and MTHFR polymorphism 677C>T were done in all patients. Results: The Leiden mutation was found in 8 women (homozygotic in 2 of them) and prothrombin gene mutation in 3. 85 women had the heterozygotic MTHFR polymorphism, while 24 the homozygotic one. Coexistence of the Leiden mutation and the MTHFR polymorphism was found in 3 patients with history of miscarriages. Conclusions: 1. The presence of the mutations that promote thrombophilia in the genes responsible for the foliate metabolism and for the plasma coagulation is often associated with pregnancy failures and may be their basic cause in some cases. 2. The percentage of women with pregnancy failures being heterozygotes (73.3%), homozygotes (20.7%) or both (94%) of the MTHFR gene 677C>T polymorphism is statistically significantly higher than the highest prevalence of these changes in the general population (55, 13%, and 68%, respectively). 3. The factor V gene Leiden mutation is associated mainly with recurrent spontaneous abortions. In the present study it was found only in the group of women with both early and late miscarriages

Identification of the barrier to gene flow between phylogeographic lineages of the common hamster Cricetus cricetus

In anthropogenically disturbed habitats, natural barriers still exist and have to be recognized, as they are important for conservation measures. Areas of phylogeographic breaks within a species are often stabilized in inhospitable regions which act as natural barriers. An area of contact between phylogeographic lineages of the common hamster (Cricetus cricetus) was found in the Małopolska Upland in Poland. A total of 142 common hamsters were captured between 2005 and 2009. All hamsters were genotyped at 17 microsatellite loci and partial sequences of the mitochondrial (mtDNA) control region were obtained. No mixed populations with mtDNA haplotypes of both lineages were found. The distance between marginal populations was about 20 km; no hamsters were found in the area between. A principal components analysis (PCA) was performed on microsatellite data and the greatest change in PC1 scores was found between marginal samples. To define the habitat components responsible for the phylogeographic break, we compared the habitat composition of sites occupied by hamsters with those from which hamsters were absent. We found that hamsters avoided forested areas and sandy soils. The area of the potential barrier was characterized by a high proportion of woodland and unfavorable soils in comparison with neighboring areas inhabited by hamsters. They cannot settle in this area due to their high winter mortality in shallow burrows and high predation in the fields adjacent to forests

Ice-related seasonality in zooplankton community composition in a high Arctic fjord

Seasonal mesozooplankton community composition was studied monthly from March to October 2007 in the high Arctic, Rijpfjorden (Svalbard), and related to abiotic (hydrography, sea ice) and biotic (ice algae and phytoplankton biomass) environmental conditions. The community was numerically dominated by the cosmopolitan Oithona similis, whereas Arctic Calanus glacialis was the dominant taxon in terms of biomass. Seasonal mesozooplankton community development was largely influenced by the sea ice and hydrographic conditions, which impacted the primary production regime in the fjord. Three distinct periods could be identified based on species and life stages composition: (i) winter–spring transition (March–June), with high ice algal biomass in April–June, characterized by peak abundances of Pseudocalanus minutus, Calanus glacialis females and Clione limacina; (ii) sea ice break-up and phytoplankton bloom (July), with high numbers of Calanus nauplii and young copepodids, as well as larvae of benthic crustaceans such as Cirripedia and Decapoda; and (iii) ice-free post-bloom period (August–October), when the pulse of warm waters into the fjord resulted in development of a community with Atlantic characteristics and peak abundances of Oithona similis, Oithona atlantica, Limacina helicina and Echinodermata larvae within the upper 50 m. At the same time, older copepodids of Calanus glacialis and Calanus finmarchicus had already descended to overwintering depths (.100 m). Despite the 2–3 months delay in the phytoplankton bloom compared with ice-free Svalbard fjords, the Rijpfjorden mesozooplankton managed to fulfill their life cycles in a similar time, likely due to the utilization of the ice algal bloom, and warmer water enhancing species growth and development in late summer

Structural basis for recognition and remodeling of the TBP:DNA:NC2 complex by Mot1

Swi2/Snf2 ATPases remodel substrates such as nucleosomes and transcription complexes to control a wide range of DNA-associated processes, but detailed structural information on the ATP-dependent remodeling reactions is largely absent. The single subunit remodeler Mot1 (modifier of transcription 1) dissociates TATA box-binding protein (TBP):DNA complexes, offering a useful system to address the structural mechanisms of Swi2/Snf2 ATPases. Here, we report the crystal structure of the N-terminal domain of Mot1 in complex with TBP, DNA, and the transcription regulator negative cofactor 2 (NC2). Our data show that Mot1 reduces DNA:NC2 interactions and unbends DNA as compared to the TBP:DNA:NC2 state, suggesting that Mot1 primes TBP:NC2 displacement in an ATP-independent manner. Electron microscopy and cross-linking data suggest that the Swi2/Snf2 domain of Mot1 associates with the upstream DNA and the histone fold of NC2, thereby revealing parallels to some nucleosome remodelers. This study provides a structural framework for how a Swi2/Snf2 ATPase interacts with its substrate DNA:protein complex

Remote Sensing approaches for assessing vegetation carbon stocks and fluxes in the Lena River Delta (Northern Yakutia, Russia)

Uncertainty in carbon cycling in terrestrial ecosystems contributes to overall uncertainty in Earth System Models. In particular, polar terrestrial ecosystems are understudied. Here, we focus on optical and radar remote sensing approaches to understand above-ground carbon dynamics related to vegetation as primary producers in tundra permafrost landscapes. In the ongoing Russian-German research cooperation and joint field expeditions we evaluate the applicability of remote sensing for assessing vegetation stocks and short-term fluxes in the Lena River Delta in the Siberian Arctic. New spaceborne satellite missions such as Sentinel-1, Sentinel-2 and ESA Data User Element DUE Permafrost provide useful services and data for this investigation. i) We evaluated and ground-truthed circumarctic-harmonized geospatial products of land cover and vegetation height from the ESA GlobPermafrost program for the Lena Delta region. The remote sensing products were derived from radar Sentinel-1 and optical Sentinel-2 satellite data. They are findable in the Arctic Permafrost Spatial Center (APGC) (apgc.awi.de) and are published under 10.1594/PANGAEA.897916, [Titel anhand dieser DOI in Citavi-Projekt übernehmen] and 10.1594/PANGAEA.897045 [Titel anhand dieser DOI in Citavi-Projekt übernehmen] . ii) We classified land cover using Sentinel-2 data based on in-situ vegetation data and optimized on biomass and wetness regimes. iii) We investigated the applicability of different land cover products for upscaling in-situ field-based biomass estimates to landscape-scale above-ground vegetation carbon stocks. iv) We investigated how disturbances enhance above-ground vegetation carbon cycling using in-situ data on vegetation community, biomass, and stand age and including remote sensing observations. Our research suggests that subarctic land cover needs to show biomass and moisture regimes to be applicable. Sentinel-1 and Sentinel-2 satellite missions provide adequate spatial high resolution to upscale vegetation communities and biomass in permafrost tundra landscapes. Biomass is providing the magnitude of the carbon flux, whereas stand age is irreplaceable to provide the cycle rate. High disturbance regimes such as floodplains, valleys, and other areas of thermo-erosion are linked to high and rapid carbon fluxes compared to low disturbance on Yedoma upland tundra and holocene terraces with polygonal tundra

Above Ground biomass stocks, pool ages and fluxes in the largest arctic delta, the Lena Delta in Siberia

Vegetation biomass is a globally important climate-relevant terrestrial carbon pool. Landsat, Sentinel-2 and Sentinel-1 satellite missions provide a landscape-level opportunity to upscale tundra vegetation communities and biomass in high latitude terrestrial environments. We assessed the applicability of landscape-level remote sensing for the low Arctic Lena Delta region in Northern Yakutia, Siberia, Russia. The Lena Delta is the largest delta in the Arctic and is located North of the treeline and the 10 °C July isotherm at 72° Northern Latitude in the Laptev Sea region. During the LENA2018 expedition, we set up plots for plant projective cover and Above Ground Biomass (AGB) and sampled shrubs for shrub-ring analyses. AGB is providing the magnitude of the carbon flux, whereas stand age is irreplaceable to provide the cycle rate. AGB data and shrub age data clearly show a separation between i) low disturbance landscape types with dominant AGB moss contribution, but always low vascular plant AGB ( 0.5 kg m-2) with only young shrubs in high disturbance regimes. The low disturbance regimes are represented on the Holocene and Pleistocene delta terraces in form of azonal polygonal tundra complexes and softly dissected valleys with zonal tussock tundra. In contrast, the high disturbance regimes are sites of thermo-erosion such as along thermo-erosional valleys and on floodplains. We upscaled AGB and above ground carbon pool ages using a Sentinel-2 satellite acquisition from early August 2018. We classified via classification training using Elementary Sampling Units that are the 30 m x 30 m vegetation field plots. We then used the land cover classes and grouped them according to their settings either in high disturbance or low disturbance regimes with each associated AGB value ranges and shrub age regimes. We also evaluated circum-Arctic harmonized ESA GlobPermafrost land cover and vegetation height remote sensing products covering subarctic to Arctic land cover types for the central Lena Delta. The products are freely available and published in the PANGAEA data repository under https://doi.org/10.1594/PANGAEA.897916 and https://doi.org/10.1594/PANGAEA.897045. ESA GlobPermafrost land cover and vegetation height remote sensing products and our Sentinel-2 derived AGB product for the central Lena Delta shows realistic spatial patterns of landcover classes and biomass distribution at landscape level. However, in all products, the high biomass patches of high shrubs in the tundra landscape could not spatially be resolved as they are confined to patchy and linear distribution, not representing large enough areas suitable for upscaling. We found that high disturbance regimes with linked high and rapid AGB fluxes are distributed mainly on the floodplains and as patches along thermoerosioal features, e.g. valleys. Whereas the low disturbance landscapes on Yedoma upland tundra and Holocene terraces occur with larger area coverage representing decades slower and in magnitude smaller AGB fluxes

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies

The aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the diagnostic report. We present the results of the aCGH in a cohort of 7400 prenatal cases, indicated for invasive testing due to ultrasound abnormalities, high-risk for serum screening, thickened nuchal translucency, family history of genetic abnormalities or congenital abnormalities, and advanced maternal age (AMA). The overall chromosomal aberration detection rate was 27.2% (2010/7400), including 71.2% (1431/2010) of numerical aberrations and 28.8% (579/2010) of structural aberrations. Additionally, the detection rate of clinically significant copy number variants (CNVs) was 6.8% (505/7400) and 0.7% (57/7400) for variants of unknown clinical significance. The detection rate of clinically significant submicroscopic CNVs was 7.9% (334/4204) for fetuses with structural anomalies, 5.4% (18/336) in AMA, 3.1% (22/713) in the group of abnormal serum screening and 6.1% (131/2147) in other indications. Using the aCGH method, it was possible to assess the frequency of pathogenic chromosomal aberrations, of likely pathogenic and of uncertain clinical significance, in the groups of cases with different indications for an invasive test