Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.

Two-thirds of all human conceptions are lost, in most cases before clinical detection. The lack of detailed understanding of the causes of pregnancy losses constrains focused counseling for future pregnancies. We have previously shown that a missense variant in synaptonemal complex central element protein 2 (SYCE2), in a key residue for the assembly of the synaptonemal complex backbone, associates with recombination traits.

Actionable Genotypes and Their Association with Life Span in Iceland.

Background: In 2021, the American College of Medical Genetics and Genomics (ACMG) recommended reporting actionable genotypes in 73 genes associated with diseases for which preventive or therapeutic measures are available. Evaluations of the association of actionable genotypes in these genes with life span are currently lacking.

Methods: We assessed the prevalence of coding and splice variants in genes on the ACMG Secondary Findings, version 3.

NCOurd: modelling length distributions of NCO events and gene conversion tracts.

Motivation: Meiotic recombination is the main driving force of human genetic diversity, along with mutations. Recombinations split into crossovers, separating large chromosomal regions originating from different homologous chromosomes, and non-crossovers (NCOs), where a small segment from one chromosome is embedded in a region originating from the homologous chromosome. NCOs are much less studied than mutations and crossovers as NCOs are short and can only be detected at markers heterozygous in the transmitting parent, leaving most of them undetectable.

Sequence variants affecting the genome-wide rate of germline microsatellite mutations.

Microsatellites are polymorphic tracts of short tandem repeats with one to six base-pair (bp) motifs and are some of the most polymorphic variants in the genome. Using 6084 Icelandic parent-offspring trios we estimate 63.7 (95% CI: 61.

The sequences of 150,119 genomes in the UK Biobank.

Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data. Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank.

Interstitial Hydrogen in Fe/V Superstructures: Lattice Site Location and Thermal Vibration.

We report real space location of hydrogen in single crystalline Fe/V superstructures. Anisotropic strain is quantified versus hydrogen concentration by using the yield of backscattered primary 2 MeV ^{4}He ions for incidence in different crystallographic directions. From a comparison of ion channeling in combination with ^{1}H(^{15}N,αγ)^{12}C nuclear reaction analysis and Monte Carlo simulations we show that hydrogen is located in octahedral z sites and quantify its vibrational amplitude of 0.

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.

Long-read sequencing (LRS) promises to improve the characterization of structural variants (SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs per individual (a median of 13,353 insertions and 9,474 deletions). We discovered a set of 133,886 reliably genotyped SV alleles and imputed them into 166,281 individuals to explore their effects on diseases and other traits.

On the interaction of softwood hemicellulose with cellulose surfaces in relation to molecular structure and physicochemical properties of hemicellulose.

The substantial part of the water-soluble hemicellulose fraction, obtained when processing cellulose to produce paper and other products, has so far been discarded. The aim of this work is to reveal the interfacial properties of softwood hemicellulose (galactoglucomannan, GGM) in relation to their molecular and solution structure. In this study the sugar composition of GGM was characterised by chemical analysis as well as 1D and 2D NMR spectroscopy.

Associations of autozygosity with a broad range of human phenotypes.

In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (F) for >1.

Nuclear Spin Incoherent Neutron Scattering from Quantum Well Resonators.

We report the detection and quantification of nuclear spin incoherent scattering from hydrogen occupying interstitial sites in a thin film of vanadium. The neutron wave field is enhanced in a quantum resonator with magnetically switchable boundaries. Our results provide a pathway for the study of dynamics at surfaces and in ultrathin films using inelastic and/or quasielastic neutron scattering methods.

Interfacial properties of lipid sponge-like nanoparticles and the role of stabilizer on particle structure and surface interactions.

The advantage of using nonlamellar lipid liquid crystalline phases has been demonstrated in many applications, such as drug delivery, protein encapsulation and crystallisation. We have recently reported that a mixture of mono- and diglycerides is able to form sponge-like nanoparticles (L3-NPs) with large enough aqueous pores to encapsulate macromolecules such as proteins. Here we use small angle neutron scattering (SANS) to reveal morphology, structural and chemical composition of these polysorbate 80 (P80) stabilized sponge phase nanoparticles, not previously known.

Characterizing mutagenic effects of recombination through a sequence-level genetic map.

Genetic diversity arises from recombination and de novo mutation (DNM). Using a combination of microarray genotype and whole-genome sequence data on parent-child pairs, we identified 4,531,535 crossover recombinations and 200,435 DNMs. The resulting genetic map has a resolution of 682 base pairs.

Electro-responsivity of ionic liquid boundary layers in a polar solvent revealed by neutron reflectance.

Using neutron reflectivity, the electro-responsive structuring of the non-halogenated ionic liquid (IL) trihexyl(tetradecyl)phosphonium-bis(mandelato)borate, [P][BMB], has been studied at a gold electrode surface in a polar solvent. For a 20% w/w IL mixture, contrast matched to the gold surface, distinct Kiessig fringes were observed for all potentials studied, indicative of a boundary layer of different composition to that of the bulk IL-solvent mixture. With applied potential, the amplitudes of the fringes from the gold-boundary layer interface varied systematically.

Depth resolved grazing incidence neutron scattering experiments from semi-infinite interfaces: a statistical analysis of the scattering contributions.

Grazing incidence neutron scattering experiments offer surface sensitivity by reflecting from an interface at momentum transfers close to total external reflection. Under these conditions the penetration depth is strongly non-linear and may change by many orders of magnitude. This fact imposes severe challenges for depth resolved experiments, since the brilliance of neutron beams is relatively low in comparison to e.

Interactions of perfluoroalkyl substances with a phospholipid bilayer studied by neutron reflectometry.

The interactions between perfluoroalkyl substances (PFASs) and a phospholipid bilayer (1,2-dimyristoyl-sn-glycero-3-phosphocholine) were investigated at the molecular level using neutron reflectometry. Representative PFASs with different chain length and functional groups were selected in this study including: perfluorobutane sulfonate (PFBS), perfluorohexanoate (PFHxA), perfluorohexane sulfonate (PFHxS), perfluorononanoate (PFNA), perfluorooctane sulfonate (PFOS), and perfluorooctane sulfonamide (FOSA). All PFASs were found to interact with the bilayer by incorporation, indicating PFAS ability to accumulate once ingested or taken up by organisms.

Neutron Reflectometry reveals the interaction between functionalized SPIONs and the surface of lipid bilayers.

The safe application of nanotechnology devices in biomedicine requires fundamental understanding on how they interact with and affect the different components of biological systems. In this respect, the cellular membrane, the cell envelope, certainly represents an important target or barrier for nanosystems. Here we report on the interaction between functionalized SuperParamagnetic Iron Oxide Nanoparticles (SPIONs), promising contrast agents for Magnetic Resonance Imaging (MRI), and lipid bilayers that mimic the plasma membrane.

Concentration dependence of hydrogen diffusion in clamped vanadium (0 0 1) films.

The chemical diffusion coefficient of hydrogen in a 50 nm thin film of vanadium (0 0 1) is measured as a function of concentration and temperature, well above the known phase boundaries. Arrhenius analysis of the tracer diffusion constants reveal large changes in the activation energy with concentration: from 0.10 at 0.

Depth profiling charge accumulation from a ferroelectric into a doped Mott insulator.

The electric field control of functional properties is a crucial goal in oxide-based electronics. Nonvolatile switching between different resistivity or magnetic states in an oxide channel can be achieved through charge accumulation or depletion from an adjacent ferroelectric. However, the way in which charge distributes near the interface between the ferroelectric and the oxide remains poorly known, which limits our understanding of such switching effects.

Finite-size effects: hydrogen in Fe/V(001) superlattices.

We investigate the effect of finite size on phase boundaries of hydride formation in ultrathin metallic films, using Fe/V(001) superlattices as a model system. The critical temperature is determined to scale linearly with the inverse thickness of the V layers. The decrease of the ordering temperature with decreasing layer thickness arises from the missing H neighbors at the interfaces, analogous to observed finite-size effects in magnetic layers and nanosized ice crystals.

Using light transmission to watch hydrogen diffuse.

Because of its light weight and small size, hydrogen exhibits one of the fastest diffusion rates in solid materials, comparable to the diffusion rate of liquid water molecules at room temperature. The diffusion rate is determined by an intricate combination of quantum effects and dynamic interplay with the displacement of host atoms that is still only partially understood. Here we present direct observations of the spatial and temporal changes in the diffusion-induced concentration profiles in a vanadium single crystal and we show that the results represent the experimental counterpart of the full time and spatial solution of Fick's diffusion equation.

Hydrogen distribution in Nb/Ta superlattices.

The distribution of hydrogen in Nb/Ta superlattices has been investigated by combined neutron reflectivity and x-ray scattering. We provide evidence to support that strain modulations determined with x-ray diffraction can be interpreted as modulations in hydrogen content. We show that the hydrogen concentration is modulated and favors Nb, in agreement with previous studies.