scholarly journals Discovery of High-Confidence Single Nucleotide Polymorphisms from Large-Scale De Novo Analysis of Leaf Transcripts of Aegilops tauschii, A Wild Wheat Progenitor

DNA Research ◽  
2012 ◽  
Vol 19 (6) ◽  
pp. 487-497 ◽  
Author(s):  
J. C. M. Iehisa ◽  
A. Shimizu ◽  
K. Sato ◽  
S. Nasuda ◽  
S. Takumi
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Large Scale ◽  
De Novo ◽  
Aegilops Tauschii ◽  
Nucleotide Polymorphisms ◽  
High Confidence ◽  
Single Nucleotide ◽  
Wild Wheat

scholarly journals DNA Melting Analysis for Detection of Single Nucleotide Polymorphisms

2001 ◽  
Vol 47 (4) ◽  
pp. 635-644 ◽  
Author(s):  
Robert H Lipsky ◽  
Chiara M Mazzanti ◽  
Joseph G Rudolph ◽  
Ke Xu ◽  
Gopal Vyas ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Large Scale ◽  
Denaturing Gradient Gel Electrophoresis ◽  
Dna Melting ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Efficient System ◽  
Gradient Gel Electrophoresis ◽  
Melting Analysis ◽  
Scale Detection

Abstract Background: Several methods for detection of single nucleotide polymorphisms (SNPs; e.g., denaturing gradient gel electrophoresis and denaturing HPLC) are indirectly based on the principle of differential melting of heteroduplex DNA. We present a method for detecting SNPs that is directly based on this principle. Methods: We used a double-stranded DNA-specific fluorescent dye, SYBR Green I (SYBR) in an efficient system (PE 7700 Sequence Detector) in which DNA melting was controlled and monitored in a 96-well plate format. We measured the decrease in fluorescence intensity that accompanied DNA duplex denaturation, evaluating the effects of fragment length, dye concentration, DNA concentration, and sequence context using four naturally occurring polymorphisms (three SNPs and a single-base deletion/insertion). Results: DNA melting analysis (DM) was used successfully for variant detection, and we also discovered two previously unknown SNPs by this approach. Concentrations of DNA amplicons were readily monitored by SYBR fluorescence, and DNA amplicon concentrations were highly reproducible, with a CV of 2.6%. We readily detected differences in the melting temperature between homoduplex and heteroduplex fragments 15–167 bp in length and differing by only a single nucleotide substitution. Conclusions: The efficiency and sensitivity of DMA make it highly suitable for the large-scale detection of sequence variants.

scholarly journals Association between a Variant in MicroRNA-646 and the Susceptibility to Hepatocellular Carcinoma in a Large-Scale Population

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Rui Wang ◽  
Jun Zhang ◽  
Weiru Jiang ◽  
Yanyun Ma ◽  
Wenshuai Li ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Protective Effect ◽  
Large Scale ◽  
Cancer Development ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Scale Population

Background. Single-nucleotide polymorphisms in microRNAs play important roles in oncogenesis and cancer development.Objective. We aim to explore whether miR-646 rs6513497 is associated with the risk of hepatocellular carcinoma.Methods. Total 997 HCC patients and 993 cancer-free controls were enrolled in this study. Genotyping was performed using MassARRAY method.Results. Compared with the T allele of rs6513497, the G allele was associated with a significantly decreased risk of HCC (OR = 0.788, 95% CI = 0.631–0.985,P= 0.037); moreover, a more protective effect of the G allele was shown in males (OR = 0.695, 95% CI = 0.539–0.897,P= 0.005 in HCC and OR = 0.739, 95% CI = 0.562–0.972,P= 0.030 in HBV-related HCC), basically in a dominant manner (HCC: OR = 0.681, 95% CI = 0.162–0.896,P= 0.006; HBV-related HCC: OR = 0.715, 95% CI = 0.532–0.962,P= 0.027).Conclusions. Our findings support the view that the miR-646 SNP rs6513497 may contribute to the susceptibility of HCC.

A validation of parentage-based tagging using hatchery steelhead in the Snake River basin

2013 ◽  
Vol 70 (7) ◽  
pp. 1046-1054 ◽  
Author(s):  
Craig A. Steele ◽  
Eric C. Anderson ◽  
Michael W. Ackerman ◽  
Maureen A. Hess ◽  
Nathan R. Campbell ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
River Basin ◽  
Large Scale ◽  
Snake River ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Promising Alternative

Parentage-based tagging (PBT) is a promising alternative to traditional coded-wire tag (CWT) methodologies for monitoring and evaluating hatchery stocks. This approach involves the genotyping of hatchery broodstock and uses parentage assignments to identify the origin and brood year of their progeny. In this study we empirically confirmed that fewer than 100 single nucleotide polymorphisms (SNPs) were needed to accurately conduct PBT, we demonstrated that our selected panel of SNPs was comparable in accuracy to a panel of microsatellites, and we verified that stock assignments made with this panel matched those made using CWTs. We also demonstrated that when sampling of spawners was incomplete, an estimated PBT rate for the offspring could also be predicted with fewer than 100 SNPs. This study in the Snake River basin is one of the first large-scale implementations of PBT in salmonids and lays the foundation for adopting this technology more broadly in the region, thereby allowing the unprecedented ability to mark millions of smolts and an opportunity to address a variety of parentage-based research and management questions.

scholarly journals Single Nucleotide Polymorphisms, Indels, and Simple Sequence Repeats for Onion Cultivar Identification

2005 ◽  
Vol 130 (6) ◽  
pp. 912-917 ◽  
Author(s):  
Jernej Jakse ◽  
William Martin ◽  
John McCallum ◽  
Michael J. Havey
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Simple Sequence Repeats ◽  
Large Scale ◽  
Phylogenetic Analyses ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Breeding Programs ◽  
Onion Seed ◽  
Onion Cultivar ◽  
Simple Sequence

The commercial production of onion (Allium cepa L.) inbreds, hybrids, and open-pollinated (OP) cultivars would benefit from a robust set of molecular markers that confidently distinguish among elite germplasms. Large-scale DNA sequencing has revealed that single nucleotide polymorphisms (SNPs), short insertion-deletion (indel) events, and simple sequence repeats (SSRs) are relatively abundant classes of codominant DNA markers. We identified 398 SNPs, indels, and SSRs among 35 elite onion ulations and observed that all populations could be distinguished. Phylogenetic analyses of simple-matching and Jaccard's coefficients for SSRs produced essentially identical trees and relationships were consistent with known pedigrees and previous marker evaluations. The SSRs revealed that elite germplasms from specific companies or breeding programs were often closely related. In contrast, phylogenetic analyses of SNPs and indels did not reveal clear relationships among elite onion populations and there was no agreement among trees generated using SNPs and indels vs. SSRs. This discrepancy was likely due to SNPs and indels occurring among amplicons from duplicated regions (paralogs) of the onion genome. Nevertheless, these PCR-based markers will be useful in the quality control of inbred, hybrid, and OP onion seed lots.

scholarly journals Whole-Genome Sequencing of a Year-Round Fruiting Jackfruit Variety Reveals Very High Single Nucleotide Polymorphisms in Inter-Genic Regions

2021 ◽  
Author(s):  
Tofazzal Islam ◽  
Nadia Afroz ◽  
ChuShin Koh ◽  
M. Nazmul Haque ◽  
Md. Jillur Rahman ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genome Sequence ◽  
De Novo ◽  
Agricultural Research ◽  
Gc Content ◽  
Whole Genome Sequence ◽  
Whole Genome ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Tropical Fruit

Abstract Background Jackfruit (Artocarpus heterophyllus Lam.) is a tropical and sub-tropical fruit tree distributed in Asia, Africa, and South America. It is the national fruit of Bangladesh and produces fruit in the summer season only. However, a year-round jackfruit variety, BARI Kanthal-3 developed by Bangladesh Agricultural Research Institute (BARI) provides fruits from September to June. This study aimed to evaluate the agronomic performance of BARI Kanthal-3 and to generate a draft whole genome sequence to obtain molecular insights of this important unique variety. Results Number of fruits, average each fruit weight, fruit yield per plant, edible portion in fruit and ß carotene content of BARI Kanthal-3 (n = 5) were 422/plant/year, 5.60 kg, 236.32 kg/year, 53.5% and 3614 mg/100g, respectively. During de novo assembly, 817.7 Mb of the BARI Kanthal-3 genome was scaffolded. However, in the reference-guided genome assembly, almost 843 Mb of the BARI Kanthal-3 genome was scaffolded. Through BUSCO assessment, 97.2% of the core genes were represented in the assembly with 1.3% and 1.5% either fragmented or missing, respectively. By comparing the single copy orthologues (SCOs) in three closely and one distantly related species of BARI Kanthal-3, 706 SCOs were found to be shared across the genomes of the five species. The phylogenetic analysis of the shared SCOs showed that A. heterophyllus is the closest species to BARI Kantal-3. The estimated genome size of BARI Kanthal-3 was 1.04 giga base pairs (Gbp) with a heterozygosity rate of 1.62%. The estimated GC content was 34.10%. Variant analysis revealed that BARI Kanthal-3 includes 5.7 M (35%) and 10.4 M (65%) simple and heterozygous single nucleotide polymorphisms (SNPs), and about 90% of all these polymorphisms are located in inter-genic regions. Conclusion The whole-genome sequence of A. heterophyllus cv. BARI Kanthal-3 reveals extremely high single nucleotide polymorphisms in inter-genic regions. The findings of this study will help better understanding the evolution, domestication, phylogenetic relationships, year-round fruiting and the markers development for molecular breeding of this highly nutritious fruit crop.

scholarly journals Single nucleotide polymorphisms associated with gastric cancer in Iranian patients

2021 ◽  
Vol 7 (2) ◽  
pp. e37-e37
Author(s):  
Arash Alghasi ◽  
Gholamreza Farnoosh ◽  
Ali Saeedi Boroujeni ◽  
Mohammad Bahadoram ◽  
Sima Tahmaseby Gandomkari ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Large Scale ◽  
Nucleotide Polymorphisms ◽  
Caspase 9 ◽  
Northern Iran ◽  
Single Nucleotide ◽  
C677t Mthfr ◽  
Increased Risk ◽  
Iranian Patients

Gastric cancer is one of the leading worldwide cancers formed in the lining of the stomach, and is the most prevalent cancer in northern Iran. Recent interventions for the early diagnosis of gastric cancer are based on genetic susceptibility parameters and the interactions between genes and the environment. Accordingly, this narrative review was designed to summarize the genetic markers involved in Iranian patients with gastric cancer, classified by cellular function. There was a significant relationship between single nucleotide polymorphisms (SNPs) in rs1051208 C allele (RAF1), rs531564 (pri-miR-124-1), rs1053023 (STAT3), rs8193 C allele (CD44), rs3130932G allele (OCT4), rs283821943, rs2032586 (ABCB1), codons 72,248 (p53), -137 G/C (IL-18), Pro12Ala (PPARγ), rs1053023 (STAT3), rs4647603 (caspase 3), -712C>T (caspase 9), -1263 A> (caspase 9) and gastric cancer. Increased risk was observed in C677T (MTHFR). Finally, decreased risk of gastric cancer was explored in -938 C>A (bcl2). Asp299Gly (TLR-4), rs1028181-513T/C (IL-19) Pro12Ala (PPARγ) may play a crucial role in susceptibility of Helicobacter pylori and gastric pathogenesis. According to the findings, the genetic polymorphisms in the immune-associated genes were related to the gastric cancer among the Iranian patients. Therefore, further large-scale functional investigations are needed to draw definite conclusions.

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