scholarly journals Understanding the Function of a Locus Using the Knowledge Available at Single-Nucleotide Polymorphisms

2021 ◽  
Vol 11 (4) ◽  
pp. 255-262
Author(s):  
Majid Nikpay ◽  
Sepehr Ravati ◽  
Robert Dent ◽  
Ruth McPherson
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Molecular Biology ◽  
Single Nucleotide Polymorphisms ◽  
Information Overload ◽  
Molecular Data ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
New Applications ◽  
Biological Entities

Understanding the function of a locus is an issue in molecular biology. Although numerous molecular data have been generated in the last decades, it remains difficult to grasp how these data are related at a locus. In this study, we describe an analytical workflow that can solve this problem using the knowledge available at the single-nucleotide polymorphism (SNP) level. The underlying algorithm uses SNPs as connectors to link biological entities and identify correlations between them through a joint bioinformatics/statistics approach. We demonstrate its application in finding the mechanism whereby a mutation causes a phenotype and in revealing the path whereby a gene is regulated and impacts a phenotype. We translate our workflow into publicly available shell scripts. Our approach provides a basic framework to solve the information overload problem in biology surrounding the annotation of a locus and is a step toward repurposing GWAS data for new applications.

scholarly journals Understanding the Function of a Locus Using the Knowledge Available at Single-Nucleotide Polymorphisms

2021 ◽  
Author(s):  
Majid Nikpay ◽  
Sepehr Ravati ◽  
Robert Dent ◽  
Ruth McPherson
Keyword(s):  
Molecular Biology ◽  
Single Nucleotide Polymorphisms ◽  
Statistical Approach ◽  
Information Overload ◽  
Molecular Data ◽  
Omics Data ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Basic Framework

Understanding the function of a locus is a challenge in molecular biology. Although numerous molecular data have been generated in the last decades, it remains difficult to grasp, how these data are related at a locus? In this study, we describe an analytical workflow that can solve this problem using the knowledge available at single-nucleotide polymorphisms (SNPs) level. The underlying algorithm uses SNPs as connectors to link omics data and identify correlation between them through a joint bioinformatical/statistical approach. We describe its application in finding the mechanism whereby a mutation causes a phenotype and in revealing the path whereby a gene is being regulated and impacts the phenotypes. We translated our workflow into freely available shell scripts that carry out the analyses. Our approach provides a basic framework to solve the information overload problem in biology.

scholarly journals Quantitative Analysis of Single-Nucleotide Polymorphism for Rapid Detection of TR34/L98H- and TR46/Y121F/T289A-Positive Aspergillus fumigatus Isolates Obtained from Patients in Iran from 2010 to 2014

2015 ◽  
Vol 60 (1) ◽  
pp. 387-392 ◽  
Author(s):  
Faezeh Mohammadi ◽  
Seyed Jamal Hashemi ◽  
Jan Zoll ◽  
Willem J. G. Melchers ◽  
Haleh Rafati ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Quantitative Analysis ◽  
Single Nucleotide Polymorphisms ◽  
Aspergillus Fumigatus ◽  
Tandem Repeat ◽  
Promoter Region ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Content Type

ABSTRACTWe employed an endpoint genotyping method to update the prevalence rate of positivity for the TR34/L98H mutation (a 34-bp tandem repeat mutation in the promoter region of thecyp51Agene in combination with a substitution at codon L98) and the TR46/Y121F/T289A mutation (a 46-bp tandem repeat mutation in the promoter region of thecyp51Agene in combination with substitutions at codons Y121 and T289) among clinicalAspergillus fumigatusisolates obtained from different regions of Iran over a recent 5-year period (2010 to 2014). The antifungal activities of itraconazole, voriconazole, and posaconazole against 172 clinicalA. fumigatusisolates were investigated using the European Committee on Antimicrobial Susceptibility Testing (EUCAST) broth microdilution method. For the isolates with an azole resistance phenotype, thecyp51Agene and its promoter were amplified and sequenced. In addition, using a LightCycler 480 real-time PCR system, a novel endpoint genotyping analysis method targeting single-nucleotide polymorphisms was evaluated to detect the L98H and Y121F mutations in thecyp51Agene of all isolates. Of the 172A. fumigatusisolates tested, the MIC values of itraconazole (≥16 mg/liter) and voriconazole (>4 mg/liter) were high for 6 (3.5%). Quantitative analysis of single-nucleotide polymorphisms showed the TR34/L98H mutation in thecyp51Agenes of six isolates. No isolates harboring the TR46/Y121F/T289A mutation were detected. DNA sequencing of thecyp51Agene confirmed the results of the novel endpoint genotyping method. By microsatellite typing, all of the azole-resistant isolates had genotypes different from those previously recovered from Iran and from the Dutch TR34/L98H controls. In conclusion, there was not a significant increase in the prevalence of azole-resistantA. fumigatusisolates harboring the TR34/L98H resistance mechanism among isolates recovered over a recent 5-year period (2010 to 2014) in Iran. A quantitative assay detecting a single-nucleotide polymorphism in thecyp51Agene ofA. fumigatusis a reliable tool for the rapid screening and monitoring of TR34/L98H- and TR46/Y121F/T289A-positive isolates and can easily be incorporated into clinical mycology algorithms.

NIASGBsnp: integration of single nucleotide polymorphism data of rice (Oryzasativa L.) genetic resources

2013 ◽  
Vol 11 (3) ◽  
pp. 221-224
Author(s):  
Masaru Takeya ◽  
Fukuhiro Yamasaki ◽  
Sachiko Hattori ◽  
Kaworu Ebana
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Plant Pathology ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Resources ◽  
Snp Markers ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Snp Data ◽  
Polymorphism Data

The NIASGBsnp system manages data on single nucleotide polymorphisms (SNPs) of rice (Oryzasativa L.) genetic resources in the National Institute of Agrobiological Science (NIAS) Genebank. NIASGBsnp currently holds data on 768 SNP markers for 301 rice accessions and plans to add the SNP data of active rice accessions in the NIAS Genebank. It can show differences between accessions by graphical genotyping. Passport, characteristics and evaluation data of accessions can be retrieved to allow phenotype to be associated with genotype. NIASGBsnp will support various research purposes such as genomic selection and plant pathology research.

scholarly journals The Fibroblast of the Relationship Between FGFR2 Gene Rs2981582 Polymorphism and Breast Cancer Risk

2021 ◽  
Vol 24 (1) ◽  
pp. 122-135
Author(s):  
Ahmad Hamta‌ ◽  
◽  
Sahar Adl ◽  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphism ◽  
Single Nucleotide Polymorphisms ◽  
Growth Factor Receptor ◽  
Tyrosine Kinase Receptor ◽  
Cancer Type ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Fgfr2 Gene

Background and Aim: Breast cancer is the most common cancer type and the leading cause of cancer-induced deaths in women, worldwide. The Fibroblast Growth Factor Receptor 2 (FGFR2) is a tyrosine kinase receptor that plays an essential role in the growth, invasion, movement, and angiogenesis of tumor cells. Several single nucleotide polymorphisms have been found in the intron 2 of the FGFR2 gene, i.e., associated with a high risk of breast cancer. Genetic variation in this receptor is a new risk factor for breast cancer. The current study aimed to evaluate the association of single-nucleotide polymorphism rs2981582C/T in women with breast cancer. Methods & Materials: In total, 80 women with breast cancer and 80 healthy women (controls) were selected from Markazi Province, Iran to participate in this research. Polymorphism rs2981582 was analyzed to investigate its association with breast cancer. DNA extraction from blood samples was performed using a kit. The presence of these single-nucleotide polymorphisms was determined by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR - RFLP). Statistical analyses were performed by SPSS using Chi-squared test at P≤0.05. Ethical Considerations: This study was approved by the Ethics Committee of the Arak University (Code: IR.ARAKMU.REC.1395.28). Results: Significant differences were observed in the frequency of rs2981582 polymorphism in the FGFR2 gene between the control and patient groups (P=0.000). In the patient group, the TT genotype was significantly associated with the risk of breast cancer (P=0.001; OR=3.566). On the other hand, allele C indicated a protective role against the disease (P=0.000). Conclusion: The obtained data revealed a significant relationship between rs2981582 C/T polymorphism and the risk of breast cancer; thus, this single-nucleotide polymorphism could be used as a biomarker to predict breast cancer.

scholarly journals Novel Multiplex Single Nucleotide Polymorphism-Based Method for Identifying Epidemic Clones of Listeria monocytogenes

2011 ◽  
Vol 77 (17) ◽  
pp. 6290-6294 ◽  
Author(s):  
Sara Lomonaco ◽  
Stephen J. Knabel ◽  
Alessandra Dalmasso ◽  
Tiziana Civera ◽  
Maria Teresa Bottero
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Listeria Monocytogenes ◽  
Single Nucleotide Polymorphisms ◽  
High Throughput ◽  
High Throughput Screening ◽  
Virulence Genes ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Content Type

ABSTRACTA novel primer extension-based, multiplex minisequencing assay targeting six highly informative single nucleotide polymorphisms (SNPs) in four virulence genes correctly identified and differentiated all four epidemic clones (ECs) ofListeria monocytogenesand 9 other strains initially misclassified as non-ECs. This assay allows rapid, accurate, and high-throughput screening for all known ECs ofL. monocytogenes.

scholarly journals Single nucleotide polymorphism in the rpoB gene Mycobacterium tuberculosis from Papua-Indonesia and its impact on rifampicin resistance: A whole genome sequencing analysis

2021 ◽  
Vol 15 (2) ◽  
pp. 1
Author(s):  
Yustinus Maladan ◽  
Tri Wahyuni ◽  
Hana Krismawati
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Mycobacterium Tuberculosis ◽  
Single Nucleotide Polymorphisms ◽  
Rna Polymerase ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

In the antibiotic era, Tuberculosis (TB) drugs resistance especially Rifampicin (RIF) is highly reported around the world. Resistance of RIF is caused by the mutation of genes that associated with RIF receptor. The aims of this study are detecting the Single Nucleotide Polymorphism of Rifampicin resistant genes using Whole Genome Sequencing (WGS) and analysing the profile of protein changing caused by SNP. Twenty Mycobacterium tuberculosis culture samples were passed on WGS procedure and 19 samples were adequate to further bioinformatics analysis. Single Nucleotide Polymorphisms Analysis was done using TBprofiler. Based on TBProfiler, seventeen samples were resistant to rifampicin. The mutations that cause the resistance are S450L, D435Y, H445Y, 430P, Q432K. Other Single Nucleotide Polymorphisms H835R, V534M and R224C were also found. The H835R mutants are present together with the S450L, V534M with S450L mutants, and R224C with Q432K mutants. Native protein for RNA Polymerase Subunit β used was the result of separation from the crystal structure of Mycobacterium tuberculosis H37Rv RNA polymerase (PDB: 5UHB). Binding affinity RIF to RNA Polymerase Subunit β calculated using AutoDock vina. Construction of mutant 3D structures using FoldX5. From the analysis, it was found that seventeen samples were resistant to rifampicin and two samples did not contain SNP which could cause resistance to rifampicin.

scholarly journals Single Nucleotide Polymorphism (SNP) IL-10 (RS 1800896) pada Infeksi Bakteri Gram negatif dan TLR-2 (RS 3804099) Infeksi Bakteri Gram positif Pada Sepsis Neonatorum

Sari Pediatri ◽  
2016 ◽  
Vol 17 (6) ◽  
pp. 423
Author(s):  
Lia Kamelia ◽  
Sjarif Hidajat Effendi
Keyword(s):  
Polymerase Chain Reaction ◽  
Single Nucleotide Polymorphism ◽  
Single Nucleotide Polymorphisms ◽  
Dna Polymerase ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Polymerase Chain

Latar belakang. Sepsis neonatorum merupakan masalah kesehatan dengan tingkat morbiditas dan mortalitas yang tinggi. Kulturdarah sebagai gold standar diagnostic hanya memberikan hasil positif sekitar 40%. Latar belakang genetik saat ini diakui berkontribusiterhadap respons imunologis inangTujuan. Menentukan hubungan SNP IL-10 (rs 1800896) dengan infeksi bakteri Gram negatif dan TLR-2 (rs 3804099)dengan infeksi bakteri Gram positif pada sepsis neonatorum.Metode. Penelitian rancangan cross sectional pada sepsis neonatorum. Subjek dengan hasil kultur darah positif dilakukan analisisgenetik single nucleotide polymorphisms IL-10 (rs1800896) dan TLR-2 (rs3804099), dengan tahapan isolasi deoxyribonucleat acid(DNA), polymerase chain reaction (PCR), dan sekuensing DNA.Hasil. Tidak didapatkan hasil yang bermakna (p>0,05) SNP IL-10 (rs1800896) dengan infeksi bakteri Gram negatifdan SNP TLR-2(rs3804099) dengan infeksi bakteri Gram positifKesimpulan. Tidak terdapat hubungan single nucleotide polymorphism (snp) IL-10 (rs 1800896) dengan infeksi bakteri Gramnegatifdan TLR-2 (rs 3804099) dengan infeksi bakteri Gram positif pada sepsis neonatorm.

scholarly journals Association of single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529 with sudden cardiac death

2019 ◽  
pp. 35-41
Author(s):  
A. A. Ivanova ◽  
V. N. Maksimov ◽  
S. K. Malutina ◽  
V. P. Novoselov ◽  
M. I. Voevoda
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Sudden Cardiac Death ◽  
Single Nucleotide Polymorphisms ◽  
Cardiac Death ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Aim. To confirm the association between sudden cardiac death (SCD) and single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529, identified in own genome-wide associative study as new molecular genetic markers of SCD.Material and methods. As design we used case-control study. The SCD group was formed using the SCD criteria of the European Society of Cardiology (n=438, average age 53,2±9,1 years, male — 72,7%, women — 28,3%). The control group (n=435, average age 53,2±8,9 years, men — 70,0%, women — 30,0%) was selected by gender and age for the SCD group from the DNA bank of the international projects MONICA and HAPIEE. DNA was isolated by phenol-chloroform extraction from myocardial tissue in the SCD group and venous blood in the control group. Genotyping was performed by polymerase chain reaction followed by analysis of estriction fragment length polymorphism. The results are statistically processed using the SPSS 16.0 software package.Results. No carriers of the rare allele A of the single nucleotide polymorphism rs74765750 were found in the SCD group and the control group. No statistically significant differences were found between the SCD group and the control group relating to frequencies of genotypes and alleles of single nucleotide polymorphisms rs7164665 and rs71461059. In the age group older than 50 years, the proportion of carriers of the heterozygous CT genotype of the single nucleotide polymorphism rs6762529 in the SCD group is statistically significantly lower compared to the control group (CT vs CC+TT: OR=0,686, 95% CI 0,483-0,967 p=0,035).Conclusion. The CT genotype of the single nucleotide polymorphism rs6762529 is associated with a protective effect on SCD for people over 50 years of age. The association with single nucleotide polymorphisms rs7164665, rs71461059, rs74765750 with SCD has not been confirmed.

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