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SURF1 is an assembly factor of mitochondrial complex IV, and its mutations are the primary cause of Leigh syndrome in infants. To date, over 100 SURF1 mutations have been reported worldwide, but the spectrum of the SURF1 mutations in China remains unclear. Here, using next-generation sequencing targeting mitochondrial protein-coding sequences, we sequenced 178 patients suspected to have mitochondrial...
MicroRNA (miRNA) is a sort of endogenous ~20–25 nt non-coding RNAs, and it can regulate a variety of biological events. We found the miR-378 may involve in regulating the muscle development of sheep during our previous research. However, the molecular mechanism of miR-378 regulating myoblast proliferation is still unclear. In this research, we predicted that BMP2 (Bone morphogenetic protein 2) was...
Cell death is a normal phenomenon in the course of biological development, moreover, which is also a prominent feature in lung exposed to hyperoxia. Severe hypoxia occurs in ALI/ARDS patients, who generally require high concentration oxygen therapy assisted by mechanical ventilation. Nevertheless, high oxygen can cause excessive reactive oxygen species (ROS), leading to apoptosis in lung epithelial...
Currently, genetic risk score (GRS) model has been a widely used method to evaluate the genetic effect of cancer risk prediction, but seldom studies investigated their discriminatory power, especially for colorectal cancer (CRC) risk prediction. In this study, we applied both simulation and real data to comprehensively compare the discriminability of different GRS models. The GRS models were fitted...
The differential expression of microRNAs (miRNAs) in plasma of pancreatic cancer (PC) patients may act as a diagnostic biomarker. A four-stage study was performed to identify plasma miRNAs with potential in detecting PC. Exiqon panels (20 PC vs. 10 normal controls (NCs)) were applied in the screening phase to obtain miRNA profiling. The identified miRNAs were further assessed in the training (40 PC...
Abnormal regulation of gene expression is essential for tumorigenesis. Several studies indicate that regulation of oncogene expression and neoplastic transformation are controlled by subunits of eukaryotic translation initiation factors (eIFs). Eukaryotic translation initiation factor 3 (eIF3) is the largest (800 kDa) and the most complex mammalian initiation factor. It is composed of 13 non-identical...
Matrix metalloproteinases (MMPs) play important roles in tumorigenesis. The variant in MMP-9 −1562 C/T (single nucleotide polymorphisms labeled rs3918242) has been extensively evaluated as predisposing factors to digestive cancers susceptibility. However, most of these studies only contained a small number of subjects and they showed conflicting results. Therefore, to elucidate these associations,...
Krüppel-like factor 3 (KLF3), a member of the Krüppel-like factor (KLF) family, plays an important role in adipogenesis and lipid metabolism. The aim of this study was to investigate whether KLF3 could be used as a candidate gene in the breeding of cattle. The expression pattern of bovine KLF3 gene revealed that it was highly expressed in abdominal fat and perirenal fat. Using DNA sequencing, three...
Acephalic spermatozoa is an extremely rare disease associated with primary infertility. A recent study showed that genetic alterations in the SUN5 gene lead to this disease, and SUN5 mutations could explain the disease in about half of the patients. Therefore, in the present study, to re-visit the genetic contribution of SUN5 mutations to acephalic spermatozoa, we recruited 15 unrelated affected individuals...
MicroRNAs (miRNAs) are a class of ~22-nt non-coding small RNA that play an important role in various metabolic processes, mainly through suppressing the expression of protein coding genes at post-transcriptional level. Drip loss (DL) is one of the most important meat quality traits affecting the end product yield and quality of pork. To date, the underlying regulatory factors involved in DL trait...
Human papillomavirus (HPV) type 18 is predominantly associated with the development of cervical adenocarcinomas, whereas data on HPV18 genetic variability in China are limited. HPV18 genetic variants were formed phylogenetic tree, including lineages A, B, and C. We aimed to evaluate the diversity of HPV18 genetic variants by sequencing the entire E6, E7 and L1 genes. Between 2012 and 2015, a total...
MicroRNA-93-5p (miR-93-5p) dysregulation has been reported in many types of human cancer. However, the collective effect of miR-93-5p in both lung adenocarcinoma and squamous cell carcinoma and the mechanism underlying miR-93-5p involvement in non-small cell lung cancer cells (NSCLC) is unknown. Herein, our purpose was to reveal the role and explain this mechanism, with the goal of contributing to...
The nutritional value of goat milk largely depends on its fatty acid content and composition. MicroRNAs (miRNAs) are a class of RNA molecules 18–25nt in length that regulate gene expression and play crucial roles in several biological processes, including fatty acid metabolism. In this study, we analyzed the correlation between differentially expressed miRNAs in goat mammary tissue and the fatty acid...
Topping is an important agronomic practice that significantly impacts the yield of various crop plants. Topping and the regulation of axillary shoot outgrowth are common agronomic practices in tobacco. However, the effects of topping on gene expression in tobacco remain unknown. We applied the Illumina HiSeq™ 2000 platform and analyzed differentially expressed genes (DEGs) from untopped and topped...
Recent studies have highlighted important roles for long noncoding RNAs (lncRNAs) during the complex process of carcinogenesis. H19 is an example of an lncRNA that can function either as a tumor promoter or a tumor suppressor. Here, we investigated the role of H19 in papillary thyroid carcinoma (PTC). First, we assessed H19 expression levels in human PTC tissues and PTC cell lines using quantitative...
Fatty acid synthase (FASN) is an enzyme involved with fat deposition and fatty acid composition in cattle. This study was conducted to detect single nucleotide polymorphisms (SNPs) of the FASN gene and explore their relationships with ultrasound carcass traits in order to assess the potential use of the FASN gene for the breeding selection of Qinchuan cattle for desirable carcass traits. The frequencies...
Genomic rearrangements, such as intragenic deletions and duplications, are the most prevalent types of mutation in the DMD gene, and DMD mutations underlie Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Using multiplex ligation dependent probe amplification (MLPA) and DMD gene-targeted sequencing, we performed a molecular characterization of two cases of complex noncontiguous...
Ultraviolet-B (UVB) irradiation induces oxidative stress in plant cells due to the generation of excessive reactive oxygen species. Morus alba L. (M. abla) is an important medicinal plant used for the treatment of human diseases. Also, its leaves are widely used as food for silkworms. In our previous research, we found that a high level of UVB irradiation with dark incubation led to the accumulation...
Phytochelatin synthase (PCS) is an enzyme involved in the synthesis of phytochelatins, cysteine-rich peptides which play a key role in heavy metal (HM) detoxification of plants. Mulberry (Morus L.), one of the most ecologically and economically important tree genera, has the potential to remediate HM-contaminated soils. However, genes involved in HM detoxification in Morus, such as the PCS genes,...
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