scholarly journals Clinical characteristics and genetic analysis of familial spontaneous pneumothorax in China

2021 ◽  
Author(s):  
Yong Feng ◽  
Yi-Shuai Li ◽  
Wei Wei ◽  
Liang Chen ◽  
Meng Li ◽  
...  
Keyword(s):  
Spontaneous Pneumothorax ◽  
Clinical Characteristics ◽  
Autosomal Dominant ◽  
Hereditary Disease ◽  
Sequencing Technology ◽  
Next Generation Sequencing Technology ◽  
Two Generations ◽  
Bhd Syndrome ◽  
Generation Sequencing ◽  
Early Surgical Intervention

Abstract Familial spontaneous pneumothorax (FSP) is a hereditary disease, and Birt-Hogg-Dubé (BHD) syndrome is its main cause. FSP is an autosomal dominant genetic disease related to folliculin (FLCN). The goal of this study was to investigate the clinical characteristics and possible causes of FSP in China compared with those of primary spontaneous pneumothorax (PSP). We reviewed the detailed clinical data of 8 FSP patients in a family and analyzed the clinical characteristics of FSP combined with literatures. The FLCN gene of these 8 FSP patients was sequenced by the next-generation sequencing technology (NGS). The results showed that the clinical features of FSP were significantly different from those of PSP: the incidence of pneumothorax in women is significantly higher, and the age of pneumothorax is later, most of them are two generations, which may be related to heredity. And the effect of surgical treatment is the best. Novel nonsense mutation was found in the 8 patients, and the 8 patients had the same mutation, thus demonstrating the diversity of mutation spots along the gene. Therefore, the FLCN gene screening and early surgical intervention is recommended for FSP patients.

scholarly journals Identification of a Novel Papillomavirus Type (MfoiPV1) Associated with Acrochordon in a Stone Marten (Martes foina)

Pathogens ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 539
Author(s):  
Urška Kuhar ◽  
Diana Žele Vengušt ◽  
Urška Jamnikar-Ciglenečki ◽  
Gorazd Vengušt
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Manifestation ◽  
Skin Tumor ◽  
Wild Animals ◽  
Stone Marten ◽  
Sequencing Technology ◽  
Martes Foina ◽  
Tumor Sample ◽  
Next Generation Sequencing Technology ◽  
Generation Sequencing

Papillomaviruses (PVs) are an extremely large group of viruses that cause skin and mucosal infections in humans and various domestic and wild animals. Nevertheless, there is limited knowledge about PVs in wildlife hosts, including mustelid species. This study describes a case in stone marten (Martes foina) with a clinical manifestation of skin tumor, which is rather atypical for infections with PVs. The result of the papillomavirus PCR performed on the skin tumor sample was positive, and the complete PV genome was determined in the studied sample using next-generation sequencing technology. The analysis of the PV genome revealed infection of the stone marten with a putative new PV type belonging to the Dyonupapillomavirus genus. The proposed new stone marten PV type was named MfoiPV1.

scholarly journals De Novo Genome Assembly of a Foxtail Millet Cultivar Huagu11 Uncovered the Genetic Difference to the Cultivar Yugu1, and the Genetic Mechanism of Imazethapyr Tolerance

2021 ◽  
Author(s):  
Jie Wang ◽  
Shiming Li ◽  
Lei Lan ◽  
Mushan Xie ◽  
Shu Cheng ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genome Sequence ◽  
Reference Genome ◽  
Foxtail Millet ◽  
Setaria Italica ◽  
Genome Comparison ◽  
Sequencing Technology ◽  
High Quality ◽  
Next Generation Sequencing Technology ◽  
Generation Sequencing

Abstract Background: Setaria italica is the second-most widely planted species of millets in the world and an important model grain crop for the research of C4 photosynthesis and abiotic stress tolerance. Through three genomes assembly and annotation efforts, all genomes were based on next generation sequencing technology, which limited the genome continuity. Results: Here we report a high-quality whole-genome of new cultivar Huagu11, using single-molecule real-time sequencing and High-throughput chromosome conformation capture (Hi-C) mapping technologies. The total assembly size of the Huagu11 genome was 408.37 Mb with a scaffold N50 size of 45.89 Mb. Compared with the other three reported millet genomes based on the next generation sequencing technology, the Huagu11 genome had the highest genomic continuity. Intraspecies comparison showed about 94.97% and 94.66% of the Yugu1 and Huagu11 genomes, respectively, were able to be aligned as one-to-one blocks with four chromosome inversion. The Huagu11 genome contained approximately 19.43 Mb Presence/absence Variation (PAV) with 627 protein-coding transcripts, while Yugu1 genomes had 20.53 Mb PAV sequences encoding 737 proteins. Overall, 969,596 Single-nucleotide polymorphism (SNPs) and 156,282 insertion-deletion (InDels) were identified between these two genomes. The genome comparison between Huagu11 and Yugu1 should reflect the genetic identity and variation between the cultivars of foxtail millet to a certain extent. The Ser-626-Aln substitution in acetohydroxy acid synthase (AHAS) was found to be relative to the imazethapyr tolerance in Huagu11. Conclusions: A new improved high-quality reference genome sequence of Setaria italica was assembled, and intraspecies genome comparison determined the genetic identity and variation between the cultivars of foxtail millet. Based on the genome sequence, it was found that the Ser-626-Aln substitution in AHAS was responsible for the imazethapyr tolerance in Huagu11. The new improved reference genome of Setaria italica will promote the genic and genomic studies of this species and be beneficial for cultivar improvement.

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