General mutation databases : analysis and review

Databases of mutations causing Mendelian disease play a crucial role in research, diagnostic and genetic health care and can play a role in life and death decisions. These databases are thus heavily used, but only gene or locus specific databases have been previously reviewed for completeness, accuracy, currency and utility. We have performed a review of the various general mutation databases that derive their data from the published literature and locus specific databases. Only two&mdash;the Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM)&mdash;had useful numbers of mutations. Comparison of a number of characteristics of these databases indicated substantial inconsistencies between the two databases that included absent genes and missing mutations. This situation strengthens the case for gene specific curation of mutations and the need for an overall plan for collection, curation, storage and release of mutation data.<br /

La pobreza en Cartagena: un análisis por barrios

En el presente documento se hace un análisis descriptivo de la pobreza urbana enCartagena. El tema se aborda desde dos perspectivas. En la primera, se analiza lapobreza desagregada por los barrios que conforman la cabecera municipal deCartagena. En la segunda, se realiza una comparación de la situaciónsocioeconómica de los habitantes de Cartagena con la de las principales ciudades deColombia. Vale la pena mencionar que este trabajo es pionero no sólo en Cartagenasino en Colombia, en cuanto al nivel de división por barrios al que se analizanindicadores socioeconómicos, tales como la pobreza, el ingreso, los logroseducativos, la migración y el autorreconocimiento racial. Dentro de los principalesresultados se comprobó una focalización espacial de la pobreza en sectoresespecíficos de la ciudad, tales como las laderas del Cerro de la Popa y los barriosaledaños a la Ciénaga de la Virgen. En estas zonas de la ciudad se concentra no sólola población más pobre sino la de menores logros educativos. Otro resultadointeresante, y que está acorde con la literatura internacional, es que en los barrioscartageneros de mayor pobreza existe también una alta proporción de habitantes quese autorreconocen de raza negra.Pobreza urbana, Cartagena, economía regional y urbana

Electronic structure, charge transfer, and intrinsic luminescence of gadolinium oxide nanoparticles: Experiment and theory

The cubic (c) and monoclinic (m) polymorphs of Gd2O3 were studied using the combined analysis of several materials science techniques - X-ray diffraction (XRD), scanning electron microscopy (SEM), X-ray photoelectron spectroscopy (XPS), and photoluminescence (PL) spectroscopy. Density functional theory (DFT) based calculations for the samples under study were performed as well. The cubic phase of gadolinium oxide (c-Gd2O3) synthesized using a precipitation method exhibits spheroidal-like nanoclusters with well-defined edges assembled from primary nanoparticles with an average size of 50 nm, whereas the monoclinic phase of gadolinium oxide (m-Gd2O3) deposited using explosive pyrolysis has a denser structure compared with natural gadolinia. This phase also has a structure composed of three-dimensional complex agglomerates without clear-edged boundaries that are ~21 nm in size plus a cubic phase admixture of only 2 at. % composed of primary edge-boundary nanoparticles ~15 nm in size. These atomic features appear in the electronic structure as different defects ([Gd...O-OH] and [Gd...O-O]) and have dissimilar contributions to the charge-transfer processes among the appropriate electronic states with ambiguous contributions in the Gd 5p - O 2s core-like levels in the valence band structures. The origin of [Gd...O-OH] defects found by XPS was well-supported by PL analysis. The electronic and atomic structures of the synthesized gadolinias calculated using DFT were compared and discussed on the basis of the well-known joint OKT-van der Laan model, and good agreement was established.Comment: 27 pages, 10 figures, accepted in Appl. Surf. Sc

Metabolic regulation of the maize rhizobiome by benzoxazinoids

The rhizobiome is an important regulator of plant growth and health. Plants shape their rhizobiome communities through production and release of primary and secondary root metabolites. Benzoxazinoids (BXs) are common tryptophan-derived secondary metabolites in grasses that regulate belowground and aboveground biotic interactions. In addition to their biocidal activity, BXs can regulate plant–biotic interactions as semiochemicals or within-plant defence signals. However, the full extent and mechanisms by which BXs shape the root-associated microbiome has remained largely unexplored. Here, we have taken a global approach to examine the regulatory activity of BXs on the maize root metabolome and associated bacterial and fungal communities. Using untargeted mass spectrometry analysis in combination with prokaryotic and fungal amplicon sequencing, we compared the impacts of three genetic mutations in different steps in the BX pathway. We show that BXs regulate global root metabolism and concurrently influence the rhizobiome in a root type-dependent manner. Correlation analysis between BX-controlled root metabolites and bacterial taxa suggested a dominant role for BX-dependent metabolites, particularly flavonoids, in constraining a range of soil microbial taxa, while stimulating methylophilic bacteria. Our study supports a multilateral model by which BXs control root–microbe interactions via a global regulatory function in root secondary metabolism

Cotton in the new millennium: advances, economics, perceptions and problems

Cotton is the most significant natural fibre and has been a preferred choice of the textile industry and consumers since the industrial revolution began. The share of man-made fibres, both regenerated and synthetic fibres, has grown considerably in recent times but cotton production has also been on the rise and accounts for about half of the fibres used for apparel and textile goods. To cotton’s advantage, the premium attached to the presence of cotton fibre and the general positive consumer perception is well established, however, compared to commodity man-made fibres and high performance fibres, cotton has limitations in terms of its mechanical properties but can help to overcome moisture management issues that arise with performance apparel during active wear. This issue of Textile Progress aims to: i. Report on advances in cotton cultivation and processing as well as improvements to conventional cotton cultivation and ginning. The processing of cotton in the textile industry from fibre to finished fabric, cotton and its blends, and their applications in technical textiles are also covered. ii. Explore the economic impact of cotton in different parts of the world including an overview of global cotton trade. iii. Examine the environmental perception of cotton fibre and efforts in organic and genetically-modified (GM) cotton production. The topic of naturally-coloured cotton, post-consumer waste is covered and the environmental impacts of cotton cultivation and processing are discussed. Hazardous effects of cultivation, such as the extensive use of pesticides, insecticides and irrigation with fresh water, and consequences of the use of GM cotton and cotton fibres in general on the climate are summarised and the effects of cotton processing on workers are addressed. The potential hazards during cotton cultivation, processing and use are also included. iv. Examine how the properties of cotton textiles can be enhanced, for example, by improving wrinkle recovery and reducing the flammability of cotton fibre

AD51B in Familial Breast Cancer

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C&gt;T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11–1.19, P = 8.88 x 10−16) and among familial cases (OR: 1.24, 95% CI: 1.16–1.32, P = 6.19 x 10−11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk

The MeerKAT Galaxy Cluster Legacy Survey: I. Survey overview and highlights

Please abstract in the article.The South African Radio Astronomy Observatory (SARAO), the National Research Foundation (NRF), the National Radio Astronomy Observatory, US National Science Foundation, the South African Research Chairs Initiative of the DSI/NRF, the SARAO HCD programme, the South African Research Chairs Initiative of the Department of Science and Innovation.http://www.aanda.orghj2022Physic

The SARAO MeerKAT 1.3 GHz Galactic Plane Survey

We present the SARAO MeerKAT Galactic Plane Survey (SMGPS), a 1.3 GHz continuum survey of almost half of the Galactic Plane (251○ ≤l ≤ 358○ and 2○ ≤l ≤ 61○ at |b| ≤ 1 5). SMGPS is the largest, most sensitive and highest angular resolution 1 GHz survey of the Plane yet carried out, with an angular resolution of 8″ and a broadband RMS sensitivity of ∼10–20 μJy beam−1. Here we describe the first publicly available data release from SMGPS which comprises data cubes of frequency-resolved images over 908–1656 MHz, power law fits to the images, and broadband zeroth moment integrated intensity images. A thorough assessment of the data quality and guidance for future usage of the data products are given. Finally, we discuss the tremendous potential of SMGPS by showcasing highlights of the Galactic and extragalactic science that it permits. These highlights include the discovery of a new population of non-thermal radio filaments; identification of new candidate supernova remnants, pulsar wind nebulae and planetary nebulae; improved radio/mid-IR classification of rare Luminous Blue Variables and discovery of associated extended radio nebulae; new radio stars identified by Bayesian cross-matching techniques; the realisation that many of the largest radio-quiet WISE H II region candidates are not true H II regions; and a large sample of previously undiscovered background H I galaxies in the Zone of Avoidance