The Promoter Region of theMDR1Gene Is Largely Invariant, but Different Single Nucleotide Polymorphism Haplotypes Affect MDR1 Promoter Activity Differently in Different Cell Lines

2006 ◽  
Vol 70 (1) ◽  
pp. 267-276 ◽  
Author(s):  
Baoshuang Wang ◽  
Soomun Ngoi ◽  
Jingbo Wang ◽  
Samuel S. Chong ◽  
Caroline G. L. Lee
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Cell Lines ◽  
Promoter Region ◽  
Promoter Activity ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Mdr1 Promoter

Regulatory Single Nucleotide Polymorphism Increases TERT Promoter Activity in Thyroid Carcinoma Cells

Pathobiology ◽  
2020 ◽  
Vol 87 (6) ◽  
pp. 338-344
Author(s):  
Tatsuya Hirokawa ◽  
Yuu Arimasu ◽  
Tomohiro Chiba ◽  
Yoko Nakazato ◽  
Masachika Fujiwara ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Thyroid Carcinoma ◽  
Cell Lines ◽  
Promoter Activity ◽  
Carcinoma Cell ◽  
Carcinoma Cells ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Carcinoma Cell Lines ◽  
Thyroid Carcinoma Cell

<b><i>Background/Aim:</i></b> The telomerase reverse transcriptase (<i>TERT</i>) promoter has a regulatory single nucleotide polymorphism (rSNP), rs2853669, and occasionally shows point mutations C228T and C250T. Although C228T and C250T have been well examined to increase <i>TERT</i> promoter activity and are known as risk factors for thyroid carcinoma, the significance of rs2853669 has not been well investigated. This study aimed to clarify the influence of rs2853669 on <i>TERT</i> promoter activity in thyroid carcinoma cells. <b><i>Materials:</i></b> Seven of 8 examined thyroid cell lines had rs2853669, 5 had C228T, and 1 had C250T. <b><i>Results:</i></b> Three papillary thyroid carcinoma cell lines, harboring both rs2853669 and C228T, showed higher <i>TERT</i> mRNA expression on real-time PCR than the other cell lines. Anaplastic thyroid carcinoma cell lines, in contrast, showed variable <i>TERT</i> mRNA expression depending on the combination of rs2853669, C228T, and C250T. Luciferase assays, performed to compare the influences of rs2853669, C228T, and C250T on <i>TERT</i> promoter activity in thyroid carcinoma, showed that rs2853669, as well as C228T, increased the promoter activity, and the combination of rs2853669 and C228T increased the promoter activity even more strongly than C228T alone. <b><i>Conclusion:</i></b> We conclude that the presence of rs2853669 within the <i>TERT</i> promoter could be as significant as the C228T mutation in thyroid carcinoma.

scholarly journals miR-146a promotes the initiation and progression of melanoma by activating Notch signaling

eLife ◽  
2014 ◽  
Vol 3 ◽  
Author(s):  
Matteo Forloni ◽  
Shaillay Kumar Dogra ◽  
Yuying Dong ◽  
Darryl Conte ◽  
Jianhong Ou ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Notch Signaling ◽  
Cell Lines ◽  
Somatic Mutation ◽  
Melanoma Cell ◽  
Human Melanoma ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Oncogenic Mutations ◽  
Melanoma Cell Lines

Oncogenic mutations in BRAF and NRAS occur in 70% of melanomas. In this study, we identify a microRNA, miR-146a, that is highly upregulated by oncogenic BRAF and NRAS. Expression of miR-146a increases the ability of human melanoma cells to proliferate in culture and form tumors in mice, whereas knockdown of miR-146a has the opposite effects. We show these oncogenic activities are due to miR-146a targeting the NUMB mRNA, a repressor of Notch signaling. Previous studies have shown that pre-miR-146a contains a single nucleotide polymorphism (C>G rs2910164). We find that the ability of pre-miR-146a/G to activate Notch signaling and promote oncogenesis is substantially higher than that of pre-miR-146a/C. Analysis of melanoma cell lines and matched patient samples indicates that during melanoma progression pre-miR-146a/G is enriched relative to pre-miR-146a/C, resulting from a C-to-G somatic mutation in pre-miR-146a/C. Collectively, our results reveal a central role for miR-146a in the initiation and progression of melanoma.

​Identification of Single Nucleotide Polymorphism (SNP) C-2161G in the Promoter Region of Prolactin Gene and its Association with Egg Production in Tellicherry Native Chicken

2021 ◽  
Author(s):  
Azhaguraja Manoharan ◽  
S. Sankaralingam ◽  
P. Anitha ◽  
Binoj Chacko ◽  
T.V. Aravindakshan
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Promoter Region ◽  
Egg Production ◽  
Rflp Analysis ◽  
Genotypic Frequency ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Chicken Population ◽  
Native Chicken ◽  
Prolactin Gene

Background: Prolactin is a physiological candidate gene which has significant effects on egg production in poultry. Also, it plays a major role on incubation behaviour (broodiness) in birds. The main objective of the present study was identification of single nucleotide polymorphism (SNP) C-2161G in the promoter region of prolactin gene and its association with egg production in Tellicherry native chicken population. Methods: A total of 200 blood samples were collected from the randomly selected birds of Tellicherry native chicken in All India Co-ordinated Research Project on Poultry improvement (AICRP) farm, Mannuthy, Thrissur, Kerala. Isolation of Genomic DNA was done and the isolated samples were subjected to polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis to identify the SNP C-2161G of prolactin gene. Result: On the basis of RFLP patterns, birds were designated with three different genotypes namely CC, CG and GG. The allelic and genotypic frequency was calculated. The observed genotypic frequency at the SNP site C-2161G was CC (0.61), CG (0.160) and GG (0.23) and the frequency of allele was 0.69 for C and 0.31 for G. The egg production was shown to be statistically similar for the genotypes of SNP C-2161G.

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