Lassenladefoged4365
ironments. Copyright © 2020 Thapa, Tabien, Thomson and Septiningsih.Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias. NT5C2 gene (OMIM 600417) encode a hydrolase enzyme 5'-nucleotidase, cytosolic II play an important role in maintaining the balance of purine nucleotides and free nucleobases in the spinal cord and brain. In this study we have identified a large consanguineous Saudi family segregating a novel homozygous splice site donor alteration in NT5C2 gene leading to spastic diplegia cerebral palsy, developmental delay and microcephaly. Whole exome sequencing (WES) was performed for the affected members of the family to study the novel mutation. WES data analysis, confirmed by Sanger sequencing analysis, identifies a homozygous splice site donor alteration of possible interest in NT5C2 (ENST00000343289 c.539+1G > T) at the sixth exon/intron boundaries. The mutation was further ruled out in 100 healthy control from normal population. The novel homozygous mutation observed in this study has not been reported in the literature or variant databases. The identified splicing alteration broadens the mutation spectrum of NT5C2 gene in neurodevelopmental disorders. To the best of our knowledge this is the first report from Saudi Arabia. Copyright © 2020 Naseer, Abdulkareem, Pushparaj, Bibi and Chaudhary.High-throughput DNA sequencing techniques enable time- and cost-effective sequencing of large portions of the genome. Instead of sequencing and annotating whole genomes, many phylogenetic studies focus sequencing effort on large sets of pre-selected loci, which further reduces costs and bioinformatic challenges while increasing coverage. One common approach that enriches loci before sequencing is often referred to as target sequence capture. This technique has been shown to be applicable to phylogenetic studies of greatly varying evolutionary depth. this website Moreover, it has proven to produce powerful, large multi-locus DNA sequence datasets suitable for phylogenetic analyses. However, target capture requires careful considerations, which may greatly affect the success of experiments. Here we provide a simple flowchart for designing phylogenomic target capture experiments. We discuss necessary decisions from the identification of target loci to the final bioinformatic processing of sequence data. We outline challenges and solutions related to the taxonomic scope, sample quality, and available genomic resources of target capture projects. We hope this review will serve as a useful roadmap for designing and carrying out successful phylogenetic target capture studies. Copyright © 2020 Andermann, Torres Jiménez, Matos-Maraví, Batista, Blanco-Pastor, Gustafsson, Kistler, Liberal, Oxelman, Bacon and Antonelli.Maize is a major source of food security and economic development in sub-Saharan Africa (SSA), Latin America, and the Caribbean, and is among the top three cereal crops in Asia. Yet, maize is deficient in certain essential amino acids, vitamins, and minerals. Biofortified maize cultivars enriched with essential minerals and vitamins could be particularly impactful in rural areas with limited access to diversified diet, dietary supplements, and fortified foods. Significant progress has been made in developing, testing, and deploying maize cultivars biofortified with quality protein maize (QPM), provitamin A, and kernel zinc. In this review, we outline the status and prospects of developing nutritionally enriched maize by successfully harnessing conventional and molecular marker-assisted breeding, highlighting the need for intensification of efforts to create greater impacts on malnutrition in maize-consuming populations, especially in the low- and middle-income countries. Molecular marker-assisted selection methods are particularly useful for improving nutritional traits since conventional breeding methods are relatively constrained by the cost and throughput of nutritional trait phenotyping. Copyright © 2020 Prasanna, Palacios-Rojas, Hossain, Muthusamy, Menkir, Dhliwayo, Ndhlela, San Vicente, Nair, Vivek, Zhang, Olsen and Fan.Glioblastoma (GBM) is the most common malignant tumor of the central nervous system. GBM causes poor clinical outcome and high mortality rate, mainly due to the lack of effective targeted therapy and prognostic biomarkers. Here, we developed a user-friendly Online Survival analysis web server for GlioBlastoMa, abbreviated OSgbm, to assess the prognostic value of candidate genes. Currently, OSgbm contains 684 samples with transcriptome profiles and clinical information from The Cancer Genome Atlas (TCGA), Gene Expression Omnibus (GEO) and Chinese Glioma Genome Atlas (CGGA). The survival analysis results can be graphically presented by Kaplan-Meier (KM) plot with Hazard ratio (HR) and log-rank p value. As demonstration, the prognostic value of 51 previously reported survival associated biomarkers, such as PROM1 (HR = 2.4120, p = 0.0071) and CXCR4 (HR = 1.5578, p less then 0.001), were confirmed in OSgbm. In summary, OSgbm allows users to evaluate and develop prognostic biomarkers of GBM. The web server of OSgbm is available at http//bioinfo.henu.edu.cn/GBM/GBMList.jsp. Copyright © 2020 Dong, Wang, Li, Lv, Ge, Yang, Zhang, An, Wang, Xie, Li, Zhu, Zhang, Zhang and Guo.Long noncoding RNAs (lncRNAs) play important roles in the regulation of gene expression by acting as competing endogenous RNAs (ceRNAs). However, the roles of lncRNA-associated ceRNAs in oncogenesis are not fully understood. The present study aims to determine whether a ceRNA network can serve as a prognostic marker in human prostate cancer (PCa). In order to identify a ceRNA network and the key lncRNAs in PCa, we constructed a differentially expressed lncRNAs (DELs)-differentially expressed miRNAs (DEMis)-differentially expressed mRNAs (DEMs) regulatory network based on the ceRNA theory using data from the Cancer Genome Atlas (TCGA). We found that the DELs-DEMis-DEMs network was composed of 27 DELs nodes, seven DEMis nodes, and three DEMs nodes. The 27 DELs were further analyzed with several public databases to provide meaningful information for understanding the functional roles of lncRNAs in regulatory networks in PCa. We selected ADAMTS9-AS1 to determine its role in PCa and found that ADAMTS9-AS1 significantly influences tumor cell growth and proliferation, suggesting that it plays a tumor suppressive role.