Strong Association of De Novo Copy Number Mutations with Autism

We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were significantly associated with autism (P = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196 (1%) of controls. Most de novo CNVs were smaller than microscopic resolution. Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized

Provenance of zircon of the lowermost sedimentary cover, Estonia, East-European Craton

Bulk and accessory mineral composition of fresh and weathered crystalline rocks, and sedimentary deposits overlying the crystalline-sedimentary unconformity have been examined in core samples from 28 drill holes in Estonia. Before the Late Vendian to Early Cambrian regional subsidence and sedimentation, the region represented a flat plateau within the Svecofennian Domain. Palaeo-and Mesoproterozoic crystalline rocks, regardless their different initial mineral composition, subcrop under the Upper Vendian/Lower Cambrian sedimentary cover as usually intensely weathered rocks (saprolites) composed of residual quartz, altered micas and prevailing clay minerals mainly of the kaolinite group. Thus, the bulk mineral composition of any basement crystalline rocks imparts no specific inherited rock-forming minerals into the covering sedimentary rocks. From the variety of accessory and opaque minerals of crystalline rocks, only zircon populations survived in saprolites. Crystalline rocks of different origin yield different zircons. Relationships between the zircon typology of the basement rocks having specific areas of distribution and the sedimentary rocks immediately overlying those crystalline rocks were the main subject of this study. The result is that siliciclastic sedimentary rocks covering weathered crystalline rocks only in places inherited zircons with typological features characteristic of specific basement areas. In northeastern Estonia, local lenses of the Oru Member (the earliest Upper Vendian sedimentary rocks in Estonia resembling the debris of weathered crystalline rocks) yield accessory zircon which in a 1-2 m thick layer above the basement surface is similar to the zircons of the underlying weathering mantle of certain crystalline rocks. In the next unit, the Moldova Member, up to 43 m above the basement surface, a mixture of zircons resembling those of various local basement rocks has been found. Further upwards, in the Vendian and Lower Cambrian sequence, zircons resembling those of local basement sources are very rare or absent. Obviously, basal Vendian/Cambrian sedimentary rocks sealed off the basement as a source of zircon. Therefore a distant source, probably outside the Svecofennian Domain, could be supposed for the bulk clastic minerals and zircons of the upperpart of the Vendian and the lower part of the Cambrian. Probably, studies of isotopic ages of different typological varieties of zircons, both of obviously local and distant origin, could provide new information on respective source rock ages and areas, and on the general palaeogeographic pattern of the Vendian and Cambrian epicratonic sedimentary basins of the East-European Craton

Assessing the geochemical variability of oil shale in the Attarat Um Ghudran deposit, Jordan

The Cretaceous to Palaeogene oil shale (OS) of Jordan is predominantly calcareous mudstone with intervals of mostly siliceous minerals, quartz and cristobalite–tridymite. Oil shale is rich in organic sulphur and trace elements. According to preliminary micropalaeontological data, the OS succession of the studied area, the south-central part of the Attarat Um Ghudran (AUG) deposit in central Jordan, is of Maastrichtian age. A representative collection of 392 samples from 9 drill cores reliably characterizes the sequence of the OS seam, on average 70 m thick. The composition of AUG OS varies significantly. The major compounds CaO and SiO2 range within 3–70 wt% and 10–50 wt%, respectively, and also the contents of organic matter, MgO, P2O5, Al2O3 and S change. The concentrations of metals (especially Zn, V, Cr, Ni and Mo) change many dozens of times in the cross section. The aim of our statistical analysis was to determine the most significant OS types and their positions in the OS sequence. Two multivariate statistical analysis methods, principal components analysis (PCA) and hierarchical clustering of PCA groups, gave an interpretable result. Four principal components account for 88.6% of data variability. Variation in six main chemical components or groups of components is reflected in parameters of the four principal components. The component PC1 accounts for 47% of the data variance, expressing the highest correlation with organic matter, S, Cr, Cu, Ni, Zn, Mo, and PC2 accounts for 22.82% of the data variability, being strongly correlated with TiO2, Al2O3, Fe2O3, SiO2 and K2O and negatively correlated with CaO. The next two significant component groups express covariance with CaO and MgO. The applied statistical analysis proves to be a powerful tool for the interpretation of the chemically variable structure of the OS unit when using a representative enough sample collection. In the complex study of the OS unit, variation in the chemical composition is of interest, especially in the context of genetic and mining aspects

Palaeomagnetic age of remagnetizations in Silurian dolomites, Rástla quarry (Central Estonia)

Alternating field and thermal demagnetization of dolomite samples from the Silurian (Llandovery) horizontally-bedded sequence of central Estonia reveal two secondary magnetization components (A and B) both of chemical origin. A low-coercivity (demagnetized at -50 mT) component A (D = 60.7°, I = 7.7°, alfa95 = 16.6°) with high dispersion (k = 14.2), yields a palaeopole at 18.2°N and 139.5°E that points towards the Late Devonian — Mississipian segment of the Baltica APWP (Apparent Polar WanderPath). A high-coercivity component B (D = 13.5°, I = 60.7°, k = 67.0, alfa 95 = 4.7°) carries both normal and reversed polarities. Comparing the palaeopole (71.1°N and 173.3°E) with the European APWP reveals a Cretaceous age. These two remagnetizations are linked to mineral assemblages of magnetite and maghemite (A), and hematite (B) determined from mineralogical (X-ray, SEM and optical microscopy) and rock magnetic (acquisition and thermal demagnetization of a 3-component IRM; Lowrie-test) studies. The results suggest that the first (A) Palaeozoic remagnetization was caused by low-temperature hydrothermal circulation due to the influence of the Caledonian (more likely) or Hercynian Orogeny after the diagenetic dolomitization of carbon ates. Hematite, carrying the component B, and goethite, are the latest ferromagnetic minerals that have precipitated into the existing pore space (hematite) and walls of microscopic fractures (goethite) that opened to allow ac cess for oxygen-rich fluids during the Late Mesozoic