Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China

Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. Itis reported that some cases of familial HIES are relative to autosomal dominant or recessive inheritance, but most cases are sporadic, and result from mutations in the human signal transducer and activator of transcription 3 (STAT3) gene. In this paper, we firstly report a young man diagnosed of Hyper-IgE syndrome with STAT3 mutation in Mainland China, and investigate the autosomal dominant trait of his family members

Polygenic Basis and Variable Genetic Architectures Contribute to the Complex Nature of Body Weight —A Genome-Wide Study in Four Chinese Indigenous Chicken Breeds

Body weight (BW) is one of the most important economic traits for animal production and breeding, and it has been studied extensively for its phenotype–genotype associations. While mapping studies have mostly aimed at finding as many loci as possible that contributed to the variation in BW, the role of other factors in its genetic architecture, including their frequencies in the population and their interactions, have been largely overlooked. To comprehensively characterized the genetic architecture of BW, we performed a genome-wide association study (GWAS) both at the single-marker and haplotype level on birds from four indigenous Chinese chicken breeds (Chahua, Silkie, Langshan, and Beard), rather than studying crosses between two founder lines. Additionally, samples from two more breeds (Red Junglefowl and Recessive White) were included to better reflect variable genetic characteristics across populations. Six loci were mapped in this study, revealing the polygenic basis underlying BW. Moreover, by further examining the frequencies of the significantly associated haplotypes in each subpopulation and their effect sizes, most of the loci were found to affect BW in the Beard chicken breed alone. Two loci in GGA9 and GGA27, however, had a common effect on BW across subpopulations, showing that different underlying genetic mechanisms contribute to the phenotypic variability. These findings, particularly the variable genetic architectures found in different loci, improve our understanding of the overall genetic contributions to the large variability in BW among Chinese indigenous chicken breeds. These findings thus will have important implications for future chicken breeding

Copy number variants in locally raised Chinese chicken genomes determined using array comparative genomic hybridization

BACKGROUND: Copy number variants contribute to genetic variation in birds. Analyses of copy number variants in chicken breeds had focused primarily on those from commercial varieties with nothing known about the occurrence and diversity of copy number variants in locally raised Chinese chicken breeds. To address this deficiency, we characterized copy number variants in 11 chicken breeds and compared the variation among these breeds. RESULTS: We presented a detailed analysis of the copy number variants in locally raised Chinese chicken breeds identified using a customized comparative genomic hybridization array. We identified 833 copy number variants contained within 308 copy number variant regions. The median and mean sizes of the copy number variant regions were 14.6 kb and 35.1 kb, respectively. Of the copy number variant regions, 138 (45%) involved gain of DNA, 159 (52%) involved loss of DNA, and 11 (3%) involved both gain and loss of DNA. Principal component analysis and agglomerative hierarchical clustering revealed the close relatedness of the four locally raised chicken breeds, Shek-Ki, Langshan, Qingyuan partridge, and Wenchang. Biological process enrichment analysis of the copy number variant regions confirmed the greater variation among the four aforementioned varieties than among the seven other breeds studied. CONCLUSION: Our description of the distribution of the copy number variants and comparison of the differences among the copy number variant regions of the 11 chicken breeds supplemented the information available concerning the copy number variants of other Chinese chicken breeds. In addition to its relevance for functional analysis, our results provided the first insight into how chicken breeds can be clustered on the basis of their genomic copy number variation

Cloning of a gene encoding glycosyltransferase from Pueraria lobata (Wild.) Ohwi and its expression in Pichia pastoris

The key enzyme of puerarin biosynthesis in Pueraria lobata (Willd.) Ohwi was unclear but may involve glycosylation. To investigate the regulation of puerarin biosynthesis, a putative UDP-dependent glycosyltransferase (UGT) gene, PlUGT1 was isolated from P. lobata root, which contained abundant puerarin. PlUGT1 encoded 480 deduced amino acid residues with a conserved UDP-glucose-binding domain, which has 61 to 84% similarity to homologues from other plant species. SDS polyacrylamide gel electrophoresis and western blotting results showed that, fusion protein migrated as a single protein band with a molecular weight of 55 kDa. A yeast expression vector pPICZA-PlUGT1 was constructed and was transformed into Pichia pastoris strain GS115. Several recombinants containing multi-copy expression cassettes were obtained on the zeocin-YPD plate and confirmed by southern dot blotting. The yield of PlUGT1 attained 0.05 g/l when recombinant cells were cultured at pH 5.5, 30°C and induced with 0.5% methanol for 72 h. The expression of PlUGT1 protein correlates positively with the copy numbers of PlUGT1 in transformed yeast cells. These results suggest that, the PlUGT1 protein can be expressed efficiently in the P. pastoris expression system and may supply a new economic and convenient way for the production of PlUGT1 protein.Keywords: Pueraria lobata (Willd.) Ohwi, glycosyltransferase, cloning, expression, Pichia pastori

EDMAE: An Efficient Decoupled Masked Autoencoder for Standard View Identification in Pediatric Echocardiography

This paper introduces the Efficient Decoupled Masked Autoencoder (EDMAE), a novel self-supervised method for recognizing standard views in pediatric echocardiography. EDMAE introduces a new proxy task based on the encoder-decoder structure. The EDMAE encoder is composed of a teacher and a student encoder. The teacher encoder extracts the potential representation of the masked image blocks, while the student encoder extracts the potential representation of the visible image blocks. The loss is calculated between the feature maps output by the two encoders to ensure consistency in the latent representations they extract. EDMAE uses pure convolution operations instead of the ViT structure in the MAE encoder. This improves training efficiency and convergence speed. EDMAE is pre-trained on a large-scale private dataset of pediatric echocardiography using self-supervised learning, and then fine-tuned for standard view recognition. The proposed method achieves high classification accuracy in 27 standard views of pediatric echocardiography. To further verify the effectiveness of the proposed method, the authors perform another downstream task of cardiac ultrasound segmentation on the public dataset CAMUS. The experimental results demonstrate that the proposed method outperforms some popular supervised and recent self-supervised methods, and is more competitive on different downstream tasks.Comment: 15 pages, 5 figures, 8 tables, Published in Biomedical Signal Processing and Contro