scholarly journals Single nucleotide polymorphism and expression of genes for immune competent cell proliferation and differentiation in radiation-exposed individuals

2020 ◽  
Vol 24 (4) ◽  
pp. 399-406
Author(s):  
E. A. Blinova ◽  
V. S. Nikiforov ◽  
M. A. Yanishevskaya ◽  
A. A. Akleyev
Keyword(s):  
Cell Proliferation ◽  
Single Nucleotide Polymorphism ◽  
Competent Cell ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Expression Of Genes ◽  
Cell Proliferation And Differentiation ◽  
Proliferation And Differentiation

scholarly journals Nrf2 gene mutation and single nucleotide polymorphism rs6721961 of the Nrf2 promoter region in renal cell cancer

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Yoshiyuki Yamaguchi ◽  
Takao Kamai ◽  
Satoru Higashi ◽  
Satoshi Murakami ◽  
Kyoko Arai ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Single Nucleotide Polymorphism ◽  
Protein Expression ◽  
Gene Mutation ◽  
Promoter Region ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing ◽  
Nrf2 Protein

Abstract Background Nuclear factor erythroid 2–related factor 2 (Nrf2) is involved in cell proliferation by promotion of metabolic activity. It is also the major regulator of antioxidants and has a pivotal role in tumor cell proliferation and resistance to chemotherapy. Accordingly, we investigated the role of Nrf2 in renal cell carcinoma (RCC). Methods In 50 patients who had metastatic RCC and received cytoreductive nephrectomy, we performed Nrf2 gene mutation analysis using targeted next-generation sequencing, as well as investigating a specific single nucleotide polymorphism (SNP; rs6721961) in the Nrf2 promoter region and Nrf2 protein expression. Results Targeted next-generation sequencing revealed that five tumors had SNPs of Nrf2 associated with amino acid sequence variation, while 11 tumors had SNPs of Kelch-like ECH-associated protein 1 gene, 35 had SNPs of von Hippel-Lindau gene, and none had SNPs of fumarate hydratase gene. The three genotypes of rs6721961 showed the following frequencies: 60% for C/C, 34% for C/A, and 6% for A/A. Nrf2 mutation and the C/A or A/A genotypes were significantly associated with increased Nrf2 protein expression (p = 0.0184 and p = 0.0005, respectively). When the primary tumor showed Nrf2 gene mutation, the C/A or A/A genotype, or elevated Nrf2 protein expression, the response of metastases to vascular endothelial growth factor-targeting therapy was significantly worse (p = 0.0142, p = 0.0018, and p <  0.0001, respectively), and overall survival was significantly reduced (p = 0.0343, p = 0.0421, and p <  0.0001, respectively). Elevated Nrf2 protein expression was also associated with shorter survival according to multivariate Cox proportional analysis. Conclusion These findings suggest an associated between progression of RCC and Nrf2 signaling.

Single nucleotide polymorphism, genetic mapping, and expression of genes coding for the DOF wheat prolamin-box binding factor

2006 ◽  
Vol 6 (4) ◽  
pp. 310-321 ◽  
Author(s):  
Catherine Ravel ◽  
Ila J. Nagy ◽  
Pierre Martre ◽  
Pierre Sourdille ◽  
Mireille Dardevet ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Genetic Mapping ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Expression Of Genes ◽  
Binding Factor

UTILIZATION OF DNA MARKERS FOR EVALUATING AMYLOSE CONTENT OF GRAIN IN RICE

2013 ◽  
Vol 83 (5) ◽  
Author(s):  
Dương Thanh Thủy ◽  
Taiichiro Ookawa
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Amylose Content ◽  
Waxy Gene ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Branching Enzymes ◽  
Wx Gene ◽  
High Amylose ◽  
Suitable Marker ◽  
Granule Bound Starch Synthase

The sensory and functional properties of rice are predominantly associated with its amylose content. Granule-bound starch synthase (GBSS) encoded by the Waxy (Wx) gene determines the synthesis of amylose, while starch branching enzymes encoded by Sbe genes are involved in the formation of amylopectin. Some studies have demonstrated that Wx gene is the major controller of amylose content but there are one or more modifying genes affecting the amylose content. Three markers,  microsatellite, Single – nucleotide – polymorphism (G/T SNP) in Wx gene and Single – nucleotide – polymorphism (T/C SNP) in Sbe1 gene, were tested for their association with amylose content using sixty-nine  rice accessions from twenty countries. Of the three markers, two markers in Wx gene are significantly associated with amylose content. The combination of two markers in Wx gene (haplotypes) explained 83.8% of the variation in amylose content and discriminated the three market classes of glutinous, low, intermediate and high amylose content of rice from each other. And T/C SNP in Sbe1 locus was not a suitable marker for amylose content. Keywords: marker, amylose content, Waxy gene.

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