Testing the chondrule-rich accretion model for planetary embryos using calcium isotopes

Understanding the composition of raw materials that formed the Earth is a crucial step towards understanding the formation of terrestrial planets and their bulk composition. Calcium is the fifth most abundant element in terrestrial planets and, therefore, is a key element with which to trace planetary composition. However, in order to use Ca isotopes as a tracer of Earth's accretion history, it is first necessary to understand the isotopic behavior of Ca during the earliest stages of planetary formation. Chondrites are some of the oldest materials of the Solar System, and the study of their isotopic composition enables understanding of how and in what conditions the Solar System formed. Here we present Ca isotope data for a suite of bulk chondrites as well as Allende (CV) chondrules. We show that most groups of carbonaceous chondrites (CV, CI, CR and CM) are significantly enriched in the lighter Ca isotopes ($\delta^{44/40}Ca$ = +0.1 to +0.93 permill) compared with bulk silicate Earth ($\delta^{44/40}Ca$ = +1.05 $\pm$ 0.04 permill, Huang et al., 2010) or Mars, while enstatite chondrites are indistinguishable from Earth in Ca isotope composition ($\delta^{44/40}Ca$ = +0.91 to +1.06 permill). Chondrules from Allende are enriched in the heavier isotopes of Ca compared to the bulk and the matrix of the meteorite ($\delta^{44/40}Ca$ = +1.00 to +1.21 permill). This implies that Earth and Mars have Ca isotope compositions that are distinct from most carbonaceous chondrites but that may be like chondrules. This Ca isotopic similarity between Earth, Mars, and chondrules is permissive of recent dynamical models of planetary formation that propose a chondrule-rich accretion model for planetary embryos.Comment: 39 pages, 5 figures, 2 tables 1 supplementary material (1 table

Phylogeography of an endangered disjunct herb: long-distance dispersal, refugia and colonization routes

Quaternary glacial cycles appear to have had a consistent role in shaping the genetic diversity and structure of plant species. Despite the unusual combination of the characteristics of the western Mediterranean– Macaronesian area, there are no studies that have specifically examined the effects of palaeoclimatic and palaeogeographic factors on the genetic composition and structure of annual herbs. Astragalus edulis is a disjunct endemic found in the easternmost Canary Islands and the semi-arid areas of north-eastern Africa and south-eastern Iberian Peninsula. This endangered species shows no evident adaptations to long-distance dispersal. Amplified fragment length polymorphism (AFLP) data and plastid DNA sequences were analysed from a total of 360 individuals distributed throughout the range of this species. The modelled potential distribution of A. edulis under current conditions was projected over the climatic conditions of the Last Interglacial (130 ka BP) and Last Glacial Maximum (21 ka BP) to analyse changes in habitat suitability and to look for associations between the modelling and genetic results. Amplified fragment length polymorphism analysis showed clear phylogeographic structure with four distinct genetic clusters. Approximate Bayesian computation (ABC) models based on plastid DNA sequences indicated a Middle Pleistocene long-distance dispersal event as the origin of the populations of the Canary Islands. The models also suggested south-western Morocco as the ancestral area for the species, as well as subsequent colonization of north-eastern Morocco and the Iberian Peninsula. The data compiled indicated the possibility of the presence of refuge areas at favourable locations around the High Atlas and Anti-Atlas mountain ranges. Moreover, palaeodistribution models strongly support the events inferred by ABC modelling and show the potential distribution of the species in the past, suggesting a putative colonization route.This work has been financed by the Spanish Ministerio de Ciencia e Innovación through the projects CGL2012- 32574 and REN2003-09427, as well as by the Andalusian Consejería de Innovación, Ciencia y Tecnología through the project RNM1067. The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript

Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects

BACKGROUND: Familial Hypercholesterolemia is a common autosomal dominantly inherited disease that is most frequently caused by mutations in the gene encoding the receptor for low density lipoproteins (LDLR). Deletions and other major structural rearrangements of the LDLR gene account for approximately 5% of the mutations in many populations. METHODS: Five genomic deletions in the LDLR gene were characterized by amplification of mutated alleles and sequencing to identify genomic breakpoints. A diagnostic assay based on duplex PCR for the exon 7 – 8 deletion was developed to discriminate between heterozygotes and normals, and bioinformatic analyses were used to identify interspersed repeats flanking the deletions. RESULTS: In one case 15 bp had been inserted at the site of the deleted DNA, and, in all five cases, Alu elements flanked the sites where deletions had occurred. An assay developed to discriminate the wildtype and the deletion allele in a simple duplex PCR detected three FH patients as heterozygotes, and two individuals with normal lipid values were detected as normal homozygotes. CONCLUSION: The identification of the breakpoints should make it possible to develop specific tests for these mutations, and the data provide further evidence for the role of Alu repeats in intragenic deletions

No Evolutionary Shift in the Mating System of North American Ambrosia artemisiifolia (Asteraceae) Following Its Introduction to China

The mating system plays a key role during the process of plant invasion. Contemporary evolution of uniparental reproduction (selfing or asexuality) can relieve the challenges of mate limitation in colonizing populations by providing reproductive assurance. Here we examined aspects of the genetics of colonization in Ambrosia artemisiifolia, a North American native that is invasive in China. This species has been found to possess a strong self-incompatibility system and have high outcrossing rates in North America and we examined whether there has been an evolutionary shift towards the dependence on selfing in the introduced range. Specifically, we estimated outcrossing rates in one native and five invasive populations and compared levels of genetic diversity between North America and China. Based on six microsatellite loci we found that, like the native North American population, all five Chinese populations possessed a completely outcrossing mating system. The estimates of paternity correlations were low, ranging from 0.028–0.122, which suggests that populations possessed ∼8–36 pollen donor parents contributing to each maternal plant in the invasive populations. High levels of genetic diversity for both native and invasive populations were found with the unbiased estimate of gene diversity ranging from 0.262–0.289 for both geographic ranges based on AFLP markers. Our results demonstrate that there has been no evolutionary shift from outcrossing to selfing during A. artemisiifolia's invasion of China. Furthermore, high levels of genetic variation in North America and China indicate that there has been no erosion of genetic variance due to a bottleneck during the introduction process. We suggest that the successful invasion of A. artemisiifolia into Asia was facilitated by repeated introductions from multiple source populations in the native range creating a diverse gene pool within Chinese populations

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P=0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P=0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6W923X was transmitted by a mother to her two sons with ASD and one variant CNTN6P770L was found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD

The mass and galaxy distribution around SZ-selected clusters

We present measurements of the radial profiles of the mass and galaxy number density around Sunyaev–Zel’dovich (SZ)-selected clusters using both weak lensing and galaxy counts. The clusters are selected from the Atacama Cosmology Telescope Data Release 5 and the galaxies from the Dark Energy Survey Year 3 data set. With signal-to-noise ratio of 62 (45) for galaxy (weak lensing) profiles over scales of about 0.2–20 h-1 Mpc, these are the highest precision measurements for SZ-selected clusters to date. Because SZ selection closely approximates mass selection, these measurements enable several tests of theoretical models of the mass and light distribution around clusters. Our main findings are: (1) The splashback feature is detected at a consistent location in both the mass and galaxy profiles and its location is consistent with predictions of cold dark matter N-body simulations. (2) The full mass profile is also consistent with the simulations. (3) The shapes of the galaxy and lensing profiles are remarkably similar for our sample over the entire range of scales, from well inside the cluster halo to the quasilinear regime. We measure the dependence of the profile shapes on the galaxy sample, redshift, and cluster mass. We extend the Diemer & Kravtsov model for the cluster profiles to the linear regime using perturbation theory and show that it provides a good match to the measured profiles. We also compare the measured profiles to predictions of the standard halo model and simulations that include hydrodynamics. Applications of these results to cluster mass estimation, cosmology, and astrophysics are discussed

On the origin of the invasive olives (Olea europaea L., Oleaceae).

The olive tree (Olea europaea) has successfully invaded several regions in Australia and Pacific islands. Two olive subspecies (subspp. europaea and cuspidata) were first introduced in these areas during the nineteenth century. In the present study, we determine the origin of invasive olives and investigate the importance of historical effects on the genetic diversity of populations. Four invasive populations from Australia and Hawaii were characterized using eight nuclear DNA microsatellites, plastid DNA markers as well as ITS-1 sequences. Based on these data, their genetic similarity with native populations was investigated, and it was determined that East Australian and Hawaiian populations (subsp. cuspidata) have originated from southern Africa while South Australian populations (subsp. europaea) have mostly derived from western or central Mediterranean cultivars. Invasive populations of subsp. cuspidata showed significant loss of genetic diversity in comparison to a putative source population, and a recent bottleneck was evidenced in Hawaii. Conversely, invasive populations of subsp. europaea did not display significant loss of genetic diversity in comparison to a native Mediterranean population. Different histories of invasion were inferred for these two taxa with multiple cultivars introduced restoring gene diversity for europaea and a single successful founder event and sequential introductions to East Australia and then Hawaii for cuspidata. Furthermore, one hybrid (cuspidata x europaea) was identified in East Australia. The importance of hybridizations in the future evolution of the olive invasiveness remains to be investigated

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

<p>Abstract</p> <p>Background</p> <p>Mutations in the <it>LDLR </it>gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large genomic rearrangements account for approximately 10% of mutations in the <it>LDLR </it>gene.</p> <p>Methods</p> <p>DNA diagnostics of large genomic rearrangements was based on Multiple Ligation dependent Probe Amplification (MLPA). Subsequent analyses of deletion and duplication breakpoints were performed using long-range PCR, PCR, and DNA sequencing.</p> <p>Results</p> <p>In set of 1441 unrelated FH patients, large genomic rearrangements were found in 37 probands. Eight different types of rearrangements were detected, from them 6 types were novel, not described so far. In all rearrangements, we characterized their exact extent and breakpoint sequences.</p> <p>Conclusions</p> <p>Sequence analysis of deletion and duplication breakpoints indicates that intrachromatid non-allelic homologous recombination (NAHR) between <it>Alu </it>elements is involved in 6 events, while a non-homologous end joining (NHEJ) is implicated in 2 rearrangements. Our study thus describes for the first time NHEJ as a mechanism involved in genomic rearrangements in the <it>LDLR </it>gene.</p

Stable interference of EWS–FLI1 in an Ewing sarcoma cell line impairs IGF-1/IGF-1R signalling and reveals TOPK as a new target

BACKGROUND: Ewing sarcoma is a paradigm of solid tumour -bearing chromosomal translocations resulting in fusion proteins that act as deregulated transcription factors. Ewing sarcoma translocations fuse the EWS gene with an ETS transcription factor, mainly FLI1. Most of the EWS–FLI1 target genes still remain unknown and many have been identified in heterologous model systems