scholarly journals Identification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene

2021 ◽  
Vol 9 ◽  
Author(s):  
Neha Rajput ◽  
Gagandeep Kaur Gahlay
Keyword(s):  
In Silico ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Computational Tools ◽  
Coding Regions ◽  
Wide Range ◽  
Genes Encoding ◽  
In Silico Characterization ◽  
Dbsnp Database

ZP2, an important component of the zona matrix, surrounds mammalian oocytes and facilitates fertilization. Recently, some studies have documented the association of mutations in genes encoding the zona matrix with the infertile status of human females. Single nucleotide polymorphisms are the most common type of genetic variations observed in a population and as per the dbSNP database, around 5,152 SNPs are reported to exist in the human ZP2 (hZP2) gene. Although a wide range of computational tools are publicly available, yet no computational studies have been done to date to identify and analyze structural and functional effects of deleterious SNPs on hZP2. In this study, we conducted a comprehensive in silico analysis of all the SNPs found in hZP2. Six different computational tools including SIFT and PolyPhen-2 predicted 18 common nsSNPs as deleterious of which 12 were predicted to most likely affect the structure/functional properties. These were either present in the N-term region crucial for sperm-zona interaction or in the zona domain. 31 additional SNPs in both coding and non-coding regions were also identified. Interestingly, some of these SNPs have been found to be present in infertile females in some recent studies.

scholarly journals Characterization and risk association of polymorphisms in Aurora kinases A, B and C with genetic susceptibility to gastric cancer development

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Aner Mesic ◽  
Marija Rogar ◽  
Petra Hudler ◽  
Nurija Bilalovic ◽  
Izet Eminovic ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Transcription Factors ◽  
In Silico ◽  
In Silico Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mitotic Kinases ◽  
Genes Encoding ◽  
Silico Analysis ◽  
Control Study

Abstract Background Single nucleotide polymorphisms (SNPs) in genes encoding mitotic kinases could influence development and progression of gastric cancer (GC). Methods Case-control study of nine SNPs in mitotic genes was conducted using qPCR. The study included 116 GC patients and 203 controls. In silico analysis was performed to evaluate the effects of polymorphisms on transcription factors binding sites. Results The AURKA rs1047972 genotypes (CT vs. CC: OR, 1.96; 95% CI, 1.05–3.65; p = 0.033; CC + TT vs. CT: OR, 1.94; 95% CI, 1.04–3.60; p = 0.036) and rs911160 (CC vs. GG: OR, 5.56; 95% CI, 1.24–24.81; p = 0.025; GG + CG vs. CC: OR, 5.26; 95% CI, 1.19–23.22; p = 0.028), were associated with increased GC risk, whereas certain rs8173 genotypes (CG vs. CC: OR, 0.60; 95% CI, 0.36–0.99; p = 0.049; GG vs. CC: OR, 0.38; 95% CI, 0.18–0.79; p = 0.010; CC + CG vs. GG: OR, 0.49; 95% CI, 0.25–0.98; p = 0.043) were protective. Association with increased GC risk was demonstrated for AURKB rs2241909 (GG + AG vs. AA: OR, 1.61; 95% CI, 1.01–2.56; p = 0.041) and rs2289590 (AC vs. AA: OR, 2.41; 95% CI, 1.47–3.98; p = 0.001; CC vs. AA: OR, 6.77; 95% CI, 2.24–20.47; p = 0.001; AA+AC vs. CC: OR, 4.23; 95% CI, 1.44–12.40; p = 0.009). Furthermore, AURKC rs11084490 (GG + CG vs. CC: OR, 1.71; 95% CI, 1.04–2.81; p = 0.033) was associated with increased GC risk. A combined analysis of five SNPs, associated with an increased GC risk, detected polymorphism profiles where all the combinations contribute to the higher GC risk, with an OR increased 1.51-fold for the rs1047972(CT)/rs11084490(CG + GG) to 2.29-fold for the rs1047972(CT)/rs911160(CC) combinations. In silico analysis for rs911160 and rs2289590 demonstrated that different transcription factors preferentially bind to polymorphic sites, indicating that AURKA and AURKB could be regulated differently depending on the presence of particular allele. Conclusions Our results revealed that AURKA (rs1047972 and rs911160), AURKB (rs2241909 and rs2289590) and AURKC (rs11084490) are associated with a higher risk of GC susceptibility. Our findings also showed that the combined effect of these SNPs may influence GC risk, thus indicating the significance of assessing multiple polymorphisms, jointly. The study was conducted on a less numerous but ethnically homogeneous Bosnian population, therefore further investigations in larger and multiethnic groups and the assessment of functional impact of the results are needed to strengthen the findings.

Characterization of single-nucleotide polymorphisms in coding regions of human genes

10.1038/10290 ◽  
1999 ◽  
Vol 22 (3) ◽  
pp. 231-238 ◽  
Author(s):  
Michele Cargill ◽  
David Altshuler ◽  
James Ireland ◽  
Pamela Sklar ◽  
Kristin Ardlie ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Human Genes

scholarly journals Genomic descriptors of biodiversity – A review

2018 ◽  
Vol 69 (2) ◽  
pp. 73-83 ◽  
Author(s):  
Gábor Mészáros
Keyword(s):  
Genetic Diversity ◽  
Nucleotide Polymorphisms ◽  
Negative Consequences ◽  
Effective Population ◽  
Single Nucleotide ◽  
Diversity Assessment ◽  
Wide Range ◽  
Core Concepts

Summary The characterization of livestock genetic diversity has experienced extensive changes with the availability of dense nucleotide markers. Among the various forms of markers, the single nucleotide polymorphisms (SNP) have arguably the largest influence. A wide range of indicators for the assessment of genetic diversity was developed, or the existing methods were improved, enabling us to make informed decisions on the management of livestock populations. This review discusses the selected aspects of diversity assessment, with special attention to the SNP based methods. One of the core concepts in genomics of diversity is the linkage disequilibrium (LD), as it was shaped by demographic events during the development of breeds and species. These events, either natural or artificial, left detectable signals within the livestock genomes. Further changes were induced by human activity when mating related animals, leading to fixing or improving the desired traits in the breed, but reducing their genetic variability. The assessment of relatedness is also pivotal to construct meaningful mating plans and to avoid the negative consequences of inbreeding depression that might be detrimental especially in small, endangered populations. Both LD and relatedness are of interest on their own, as well as in their follow-up applications deriving overall measures of effective population size.

scholarly journals Genotipado por secuenciación de variedades tradicionales de Theobroma cacao (Malvaceae) del Estado de Tabasco, México

2019 ◽  
Vol 97 (3) ◽  
pp. 381
Author(s):  
Jorge Ricaño-Rodríguez ◽  
Enrique Hipólito-Romero ◽  
José M. Ramos-Prado ◽  
Eliezer Cocoletzi-Vásquez
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Theobroma Cacao ◽  
Genotyping By Sequencing ◽  
Restriction Enzymes ◽  
Nucleotide Polymorphisms ◽  
Minimum Evolution ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Traditional Agroforestry

<p><strong>Background:</strong> Single nucleotide polymorphisms (SNPs) have been identified in <em>Theobroma cacao</em> through a genotyping-by-sequencing approach. Through this research it is shared for the first time a set of results related to genetic variability and nature of conserved coding regions of reduced nucleotide sequences of mexican native varieties of cocoa.</p><p><strong>Hypothesis:</strong> Obtaining reduced genomes of <em>T. cacao</em> specimens by restriction enzymes (REs) allows the characterization of single nucleotide polymorphisms (SNPs) as well as conserved coding regions (CDs).</p><p><strong>Species of study and dates:</strong> <em>Theobroma cacao </em>L. (Malvaceae)</p><p>Study site: <em>Theobroma cacao</em> twigs came from traditional agroforestry plots located in the municipalities of Cardenas, Huimanguillo, Comalcalco, Paraiso, Jalpa de Mendez and Cunduacan, Tabasco, as well as Ixtacomitan and Pichucalco, Chiapas, Mexico; and they were collected and grafted among May and June from 2018.</p><p><strong>Methods:</strong> A method of genotyping-by-sequencing for the characterization of biobanks was developed. Filtering of crude sequences, genomic assembly, identification of SNPs, taxonomic molecular characterization and characterization of coding regions as well as minimum evolution of protein transcripts were performed.</p><p><strong>Results:</strong> <em>Theobroma cacao</em> samples showed different SNPs percentages (2 – 11 %) and the molecular evolution analyzes suggested similar maximum compound probabilities respect to their phylogeny. Conserved sequences were observed in the genomes´ coding regions, which suggest heuristic ontological predictions that have been evolutionarily regrouped in five clusters related to transcription processes and secondary metabolism.</p><strong>Conclusions:</strong> The GBS method allows to identify SNPs in cocoa. The characterization of reduced genomes determined the structural and transcriptional correlation between the samples and the reference genome of cacao Criollo.

Biochemical, molecular and in silico characterization of arsenate reductase from Bacillus thuringiensis KPWP1 tolerant to salt, arsenic and a wide range of pH

2021 ◽  
Vol 204 (1) ◽  
Author(s):  
Paromita Banerjee ◽  
Ananya Chatterjee ◽  
Sushmita Jha ◽  
Nirbhay K. Bhadani ◽  
Partha P. Datta ◽  
...  
Keyword(s):  
Bacillus Thuringiensis ◽  
In Silico ◽  
Arsenate Reductase ◽  
Wide Range ◽  
In Silico Characterization

scholarly journals In silico characterization of beta-galactosidase using computational tools

2016 ◽  
Vol 8 (1) ◽  
pp. 1-11
Author(s):  
C Gouripur Gangadhar ◽  
B Kaliwal Rohit ◽  
B Kaliwal Basappa
Keyword(s):  
In Silico ◽  
Computational Tools ◽  
In Silico Characterization ◽  
Beta Galactosidase

scholarly journals Large scale in silico characterization of repeat expansion variation in human genomes

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Sarah Fazal ◽  
Matt C. Danzi ◽  
Vivian P. Cintra ◽  
Dana M. Bis-Brewer ◽  
Egor Dolzhenko ◽  
...  
Keyword(s):  
Large Scale ◽  
Tandem Repeats ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Human Genomes ◽  
Repeat Expansions ◽  
In Silico Characterization ◽  
Made In

Abstract Significant progress has been made in elucidating single nucleotide polymorphism diversity in the human population. However, the majority of the variation space in the genome is structural and remains partially elusive. One form of structural variation is tandem repeats (TRs). Expansion of TRs are responsible for over 40 diseases, but we hypothesize these represent only a fraction of the pathogenic repeat expansions that exist. Here we characterize long or expanded TR variation in 1,115 human genomes as well as a replication cohort of 2,504 genomes, identified using ExpansionHunter Denovo. We found that individual genomes typically harbor several rare, large TRs, generally in non-coding regions of the genome. We noticed that these large TRs are enriched in their proximity to Alu elements. The vast majority of these large TRs seem to be expansions of smaller TRs that are already present in the reference genome. We are providing this TR profile as a resource for comparison to undiagnosed rare disease genomes in order to detect novel disease-causing repeat expansions.

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