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Background: Dense consensus genetic maps based on high-throughput genotyping platforms are valuable for making genetic gains in Brassica napus through quantitative trait locus identification, efficient predictive molecular breeding, and map-based gene cloning. This report describes the construction of the first B. napus consensus map consisting of a 1,359 anchored array based genotyping platform; Diversity Arrays Technology (DArT), and non-DArT markers from six populations originating from Australia, Canada, China and Europe. We aligned the B. napus DArT sequences with genomic scaffolds from Brassica rapa and Brassica oleracea, and identified DArT loci that showed linkage with qualitative and quantitative loci associated with agronomic traits.Results: The integrated consensus map covered a total of 1,987.2 cM and represented all 19 chromosomes of the A and C genomes, with an average map density of one marker per 1.46 cM, corresponding to approximately 0.88 Mbp of the haploid genome. Through in silico physical mapping 2,457 out of 3,072 (80%) DArT clones were assigned to the genomic scaffolds of B. rapa (A genome) and B. oleracea (C genome). These were used to orientate the genetic consensus map with the chromosomal sequences. The DArT markers showed linkage with previously identified non-DArT markers associated with qualitative and quantitative trait loci for plant architecture, phenological components, seed and oil quality attributes, boron efficiency, sucrose transport, male sterility, and race-specific resistance to blackleg disease.Conclusions: The DArT markers provide increased marker density across the B. napus genome. Most of the DArT markers represented on the current array were sequenced and aligned with the B. rapa and B. oleracea genomes, providing insight into the Brassica A and C genomes. This information can be utilised for comparative genomics and genomic evolution studies. In summary, this consensus map can be used to (i) integrate new generation markers such as SNP arrays and next generation sequencing data; (ii) anchor physical maps to facilitate assembly of B. napus genome sequences; and (iii) identify candidate genes underlying natural genetic variation for traits of interest. © 2013 Raman et al.; licensee BioMed Central Ltd.

Aptasensors have a great potential for environmental monitoring, particularly for real-time on-site detection of aquatic toxins produced by marine and freshwater microorganisms (cyanobacteria, dinoflagellates, and diatoms), with several advantages over other biosensors that are worth considering. Freshwater monitoring is of vital importance for public health, in numerous human activities, and animal welfare, since these toxins may cause fatal intoxications. Similarly, in marine waters, very effective monitoring programs have been put in place in many countries to detect when toxins exceed established regulatory levels and accordingly enforce shellfish harvesting closures. Recent advances in the fields of aptamer selection, nanomaterials and communication technologies, offer a vast array of possibilities to develop new imaginative strategies to create improved, ultrasensitive, reliable and real-time devices, featuring unique characteristics to produce and amplify the signal. So far, not many strategies have been used to detect aquatic toxins, mostly limited to the optic and electrochemical sensors, the majority applied to detect microcystin-LR using a target-induced switching mode. The limits of detection of these aptasensors have been decreasing from the nM to the fM order of magnitude in the past 20 years. Aspects related to sensor components, performance, aptamers sequences, matrices analyzed and future perspectives, are considered and discussed.

Kinesin-binding protein (KBP; KIF1BP; KIAA1279) functions as a regulator for a subset of kinesins, many of which play important roles in neural development. Previous studies have shown that KBP is expressed in nearly all tissue with cytoplasmic localization. Autosomal recessive mutations in KIAA1279 cause a rare neurological disorder, Goldberg-Shprintzen syndrome (GOSHS), characterized by microcephaly, polymicrogyria, intellectual disability, axonal neuropathy, thin corpus callosum and peripheral neuropathy. Most KIAA1279 mutations found in GOSHS patients are homozygous nonsense mutations that result in KBP loss-of-function. However, it is not fully understood how KBP dysfunction causes these defects. Here, we used in utero electroporation (IUE) to express KBP shRNA with green fluorescent protein (GFP) in neural progenitor cells of embryonic day (E) 14 mice, and collected brain slices at different developmental stages. By immunostaining of neuronal lineage markers, we found that KBP knockdown does not affect the neural differentiation process. However, at 4 days post IUE, many cells were located in the intermediate zone (IZ). Moreover, at postnatal day (P) 6, about one third of the cells, which have become mature neurons, remained ectopically in the white matter (WM), while cells that have reached Layer II/III of the cortex showed impaired dendritic outgrowth and axonal projection. We also found that KBP knockdown induces apoptosis during the postnatal period. Our findings indicate that loss of KBP function leads to defects in neuronal migration, morphogenesis, maturation and survival, which may be responsible for brain phenotypes observed in GOSHS.

We aimed to understand the decision-making process related to the willingness to undergo BRCA1/2 genetic testing, risk-reducing salpingo-oophorectomy (RRSO), or risk-reducing mastectomy (RRM) among the general public, cancer patients, and healthcare professionals in South Korea. In total, 3444 individuals (1496 from the general public, 1500 cancer patients, 108 clinicians, and 340 researchers) completed a survey addressing genetic testing and related risk management options in a hypothetical scenario. Differences in intent and associated factors for undergoing the above procedures or sharing test results were analyzed. Overall, 67% of participants were willing to undergo BRCA1/2 testing, with proportions of the general public (58%), cancer patients (70%), clinicians (88%), and researchers (90%). The willingness to undergo RRSO was highest among clinicians (58%), followed by among patients (38%), the general public (33%), and researchers (32%) (p < 0.001). Gender, age, education level, and household income were associated with willingness to undergo genetic testing, RRM, and RRSO (p < 0.05). The intent for undergo genetic testing, RRM, and RRSO were affected by many factors. Finally, 69% of the general public intended to share information with family, while this percentage was 92%, 91%, and 94% for patients, clinicians, and researchers, respectively (p < 0.05). These results highlight the requirement for developing targeted educational materials and counseling strategies for facilitating informed decision making.

This study describes subgingival bacterial profiles associated with clinical periodontal status in Ghanaian adolescents with or without progression of attachment loss. Among 500 adolescents included in a cohort study, 397 returned 2 years later for a periodontal re-examination, including full-mouth CAL measurements. At follow-up, a subgroup of 98 adolescents was also subjected to bacterial sampling with paper points at four periodontal sites (mesial aspect of 11, 26, 31, and 46) and analyzed with the checkerboard DNA-DNA hybridization technique against DNA-probes from nine periodontitis-associated bacterial species. The 98 Ghanaian adolescents examined in the present study were similar to the entire group examined at the 2-year follow-up with respect to age, gender, and CAL ≥3 mm. A high detection frequency of Fusobacterium nucleatum and Prevotella intermedia (>99%) using checkerboard analysis was found, while for Aggregatibacter actinomycetemcomitans the detection frequency was <50%. A strong correlation was found at the individual level between the presence of P. intermedia and the total CAL change, and P. intermedia and Porphyromonas gingivalis were strongly correlated with a change in CAL and probing pocket depth (PPD) at the sampled sites. In a linear regression model, a significant discriminating factor for the total CAL change in the dentition during the 2-year follow-up period was obtained for P. intermedia and public school. This study indicates that subgingival bacterial species other than A. actinomycetemcomitans, for example, P. intermedia, have a significant association with periodontal breakdown (change in CAL) in Ghanaian adolescents with progression of periodontal attachment loss.

Zusammenfassung Die Häufigkeit angeborener Fehlbildungen wird laut der aktuellen EUROCAT(European Registration of Congenital Anomalies and Twins)-Statistik mit 2–3 % angegeben. Fehlbildungen können dank besserer Ultraschallgeräte und geschulten Untersuchern immer häufiger und auch früher in der Schwangerschaft erkannt werden und einer weiteren Abklärung mittels genetischer Untersuchungen zugeführt werden. Vorgeburtliche genetische Untersuchungen wiederum wurden in den letzten Jahren schneller und kostengünstiger verfügbar. Eine genetische Diagnose kann den Verlauf von Schwangerschaft und Geburt, von postnatalen Therapien und den weiteren Kinderwunsch maßgeblich beeinflussen. Adäquate und zielführende Pränataldiagnostik beruht immer mehr auf einem Zusammenspiel von Geburtshilfe und Humangenetik. Deshalb ist eine enge Kommunikation zwischen den Fachdisziplinen enorm wichtig. Der Beitrag soll als Leitfaden für die Beratung Schwangerer vor und nach einer Pränataldiagnostik dienen und einen Überblick über gängige Untersuchungsmethoden der Humangenetik geben.

The relative contribution of in situ reproduction versus immigration to the recruitment process is important to ecologists. Here we consider a robust design superpopulation capture-recapture model for a population with two age classes augmented with population assignment data. We first use age information to estimate the entry probabilities of new animals originating via in situ reproduction and immigration separately for all except the first period. Then we combine age and population assignment information with the capture-recapture model, which enables us to estimate the entry probability of in situ births and the entry probability of immigrants separately for all sampling periods. Further, this augmentation of age specific capture-recapture data with population assignment data greatly improves the estimators’ precision. We apply our new model to a capture-recapture data set with genetic information for banner-tailed kangaroo rats in Southern Arizona. We find that many more individuals are born in situ than are immigrants for all time periods. Young animals have lower survival probabilities than adults born in situ. Adult animals born in situ have higher survival probabilities than adults that were immigrants.

Along with the increasing availability of electronic medical record (EMR) data, phenome-wide association studies (PheWAS) and phenome-disease association studies (PheDAS) have become a prominent, first-line method of analysis for uncovering the secrets of EMR .  Despite this recent growth, there is a lack of approachable software tools for conducting these analyses on large-scale EMR cohorts. In this article, we introduce pyPheWAS , an open-source python package for conducting PheDAS and related analyses. This toolkit includes 1) data preparation, such as cohort censoring and age-matching; 2) traditional PheDAS analysis of ICD-9 and ICD-10 billing codes; 3) PheDAS analysis applied to a novel EMR phenotype mapping: current procedural terminology (CPT) codes; and 4) novelty analysis of significant disease-phenotype associations found through PheDAS. The pyPheWAS toolkit is approachable and comprehensive, encapsulating data prep through result visualization all within a simple command-line interface. The toolkit is designed for the ever-growing scale of available EMR data, with the ability to analyze cohorts of 100,000 + patients in less than 2 h. Through a case study of Down Syndrome and other intellectual developmental disabilities, we demonstrate the ability of pyPheWAS to discover both known and potentially novel disease-phenotype associations across different experiment designs and disease groups. The software and user documentation are available in open source at https://github.com/MASILab/pyPheWAS .

The simplicity of programming the CRISPR (clustered regularly interspaced short palindromic repeats)–associated nuclease Cas9 to modify specific genomic loci suggests a new way to interrogate gene function on a genome-wide scale. We show that lentiviral delivery of a genome-scale CRISPR-Cas9 knockout (GeCKO) library targeting 18,080 genes with 64,751 unique guide sequences enables both negative and positive selection screening in human cells. First, we used the GeCKO library to identify genes essential for cell viability in cancer and pluripotent stem cells. Next, in a melanoma model, we screened for genes whose loss is involved in resistance to vemurafenib, a therapeutic RAF inhibitor. Our highest-ranking candidates include previously validated genes NF1 and MED12, as well as novel hits NF2, CUL3, TADA2B, and TADA1. We observe a high level of consistency between independent guide RNAs targeting the same gene and a high rate of hit confirmation, demonstrating the promise of genome-scale screening with Cas9.