rafttray1
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The feather rate phenotype in chicks, including early-feathering and late-feathering phenotypes, are widely used as a sexing system in the poultry industry. The objective of this study was to obtain candidate genes associated with the feather rate in Shouguang chickens. In the present study, we collected 56 blood samples and 12 hair follicle samples of flight feathers from female Shouguang chickens. Then we identified the chromosome region associated with the feather rate by genome-wide association analysis (GWAS). We also performed RNA sequencing and analyzed differentially expressed genes between the early-feathering and late-feathering phenotypes using HISAT2, StringTie, and DESeq2. We identified a genomic region of 10.0-13.0 Mb of chromosome Z, which is statistically associated with the feather rate of Shouguang chickens at one-day old. After RNA sequencing analysis, 342 differentially expressed known genes between the early-feathering (EF) and late-feathering (LF) phenotypes were screened out, which were involved in epithelial cell differentiation, intermediate filament organization, protein serine kinase activity, peptidyl-serine phosphorylation, retinoic acid binding, and so on. The sperm flagellar 2 gene (SPEF2) and prolactin receptor (PRLR) gene were the only two overlapping genes between the results of GWAS and differential expression analysis, which implies that SPEF2 and PRLR are possible candidate genes for the formation of the chicken feathering phenotype in the present study. Our findings help to elucidate the molecular mechanism of the feather rate in chicks.Pancreatic cancer is known as "the king of cancer," and ubiquitination/deubiquitination-related genes are key contributors to its development. Our study aimed to identify ubiquitination/deubiquitination-related genes associated with the prognosis of pancreatic cancer patients by the bioinformatics method and then construct a risk model. In this study, the gene expression profiles and clinical data of pancreatic cancer patients were downloaded from The Cancer Genome Atlas (TCGA) database and the Genotype-tissue Expression (GTEx) database. Ubiquitination/deubiquitination-related genes were obtained from the gene set enrichment analysis (GSEA). Univariate Cox regression analysis was used to identify differentially expressed ubiquitination-related genes selected from GSEA which were associated with the prognosis of pancreatic cancer patients. this website Using multivariate Cox regression analysis, we detected eight optimal ubiquitination-related genes (RNF7, NPEPPS, NCCRP1, BRCA1, TRIM37, RNF25, CDC27, and UBE2H) and then used them to construct a risk model to predict the prognosis of pancreatic cancer patients. Finally, the eight risk genes were validated by the Human Protein Atlas (HPA) database, the results showed that the protein expression level of the eight genes was generally consistent with those at the transcriptional level. Our findings suggest the risk model constructed from these eight ubiquitination-related genes can accurately and reliably predict the prognosis of pancreatic cancer patients. These eight genes have the potential to be further studied as new biomarkers or therapeutic targets for pancreatic cancer.Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances. In most cases, EXT1 and EXT2, which encode glycosyltransferases involved in the biosynthesis of heparan sulfate, are the genes responsible. Here we describe the clinical, phenotypic and genetic characterization of MO in 22 unrelated Chinese families involving a total of 60 patients. Variant detection was performed by means of a battery of different techniques including Sanger sequencing and whole-exome sequencing (WES). The pathogenicity of the missense and splicing variants was explored by means of in silico prediction algorithms. Sixteen unique pathogenic variants, including 10 in the EXT1 gene and 6 in the EXT2 gene, were identified in 18 (82%) of the 22 families. Fourteen (88%) of the 16 variants were predicted to give rise to truncated proteins whereas the remaining two were missense. Seven variants were newly described here, further expanding the spectrum of MO-causing variants in the EXT1 and EXT2 genes. More importantly, the identification of causative variants allowed us to provide genetic counseling to 8 MO patients in terms either of preimplantation genetic testing (PGT) or prenatal diagnosis, thereby preventing the reoccurrence of MO in the corresponding families. This study is the first to report the successful implementation of PGT in MO families and describes the largest number of subjects undergoing prenatal diagnosis to date.Acinetobacter baumannii is classified as a top priority pathogen by the World Health Organization (WHO) because of its widespread resistance to all classes of antibiotics. This makes the need for understanding the mechanisms of resistance and virulence critical. Therefore, tools that allow genetic manipulations are vital to unravel the mechanisms of multidrug resistance (MDR) and virulence in A. baumannii. A host of current strategies are available for genetic manipulations of A. baumannii laboratory-strains, including ATCC® 17978TM and ATCC® 19606T, but depending on susceptibility profiles, these strategies may not be sufficient when targeting strains newly obtained from clinic, primarily due to the latter's high resistance to antibiotics that are commonly used for selection during genetic manipulations. This review highlights the most recent methods for genetic manipulation of A. baumannii including CRISPR based approaches, transposon mutagenesis, homologous recombination strategies, reporter systems and complementation techniques with the spotlight on those that can be applied to MDR clinical isolates. Mutations in the teneurin transmembrane protein 4 ( ) gene, known to be involved in neuropsychiatric disorders, have been identified in three pedigree of essential tremor (ET) from Spain. ET has overlapping clinical manifestations and epidemiological symptoms with Parkinson's disease (PD), suggesting these two disorders may reflect common genetic risk factors. In this study, we investigated clinical and genetic manifestations in four unrelated pedigrees with both ET and PD in which variants were identified. We subsequently explored whether variants contributed to the risk of developing PD. The frequency of variants was evaluated from four PD pedigrees and other 407 subjects. The results revealed 12 different novel heterozygous variants, all at low frequency. A clear general enrichment of variants was detected in early onset PD patients ( < 0.001, OR = 5.264, 95% CI = 1.957-14.158). The results indicate that rare variants may be associated with an increased risk of PD.The results indicate that rare TENM4 variants may be associated with an increased risk of PD.

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