scholarly journals Unique Mitochondrial Single Nucleotide Polymorphisms Demonstrate Resolution Potential to Discriminate Theileria parva Vaccine and Buffalo-Derived Strains

Life ◽  
2020 ◽  
Vol 10 (12) ◽  
pp. 334
Author(s):  
Micky M. Mwamuye ◽  
Isaiah Obara ◽  
Khawla Elati ◽  
David Odongo ◽  
Mohammed A. Bakheit ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Phylogenetic Analyses ◽  
Clinical Manifestations ◽  
Current Control ◽  
Theileria Parva ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Treatment And Prevention ◽  
Mitochondrial Haplotypes

Distinct pathogenic and epidemiological features underlie different Theileria parva strains resulting in different clinical manifestations of East Coast Fever and Corridor Disease in susceptible cattle. Unclear delineation of these strains limits the control of these diseases in endemic areas. Hence, an accurate characterization of strains can improve the treatment and prevention approaches as well as investigate their origin. Here, we describe a set of single nucleotide polymorphisms (SNPs) based on 13 near-complete mitogenomes of T. parva strains originating from East and Southern Africa, including the live vaccine stock strains. We identified 11 SNPs that are non-preferentially distributed within the coding and non-coding regions, all of which are synonymous except for two within the cytochrome b gene of buffalo-derived strains. Our analysis ascertains haplotype-specific mutations that segregate the different vaccine and the buffalo-derived strains except T. parva-Muguga and Serengeti-transformed strains suggesting a shared lineage between the latter two vaccine strains. Phylogenetic analyses including the mitogenomes of other Theileria species: T. annulata, T. taurotragi, and T. lestoquardi, with the latter two sequenced in this study for the first time, were congruent with nuclear-encoded genes. Importantly, we describe seven T. parva haplotypes characterized by synonymous SNPs and parsimony-informative characters with the other three transforming species mitogenomes. We anticipate that tracking T. parva mitochondrial haplotypes from this study will provide insight into the parasite’s epidemiological dynamics and underpin current control efforts.

Association of single-nucleotide polymorphisms in non-coding regions of the TLR4 gene with primary open angle glaucoma in a Mexican population

2016 ◽  
Vol 38 (4) ◽  
pp. 325-329 ◽  
Author(s):  
Jose Navarro-Partida ◽  
Beatriz Alvarado Castillo ◽  
Abril Bernardette Martinez-Rizo ◽  
Ramses Rosales-Diaz ◽  
Jesus Bernardino Velazquez-Fernandez ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Mexican Population ◽  
Nucleotide Polymorphisms ◽  
Open Angle ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Tlr4 Gene

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 Fidelity varies in the symbiosis between a gutless marine worm and its microbial consortium

2021 ◽  
Author(s):  
Yui Sato ◽  
Juliane Wippler ◽  
Cecilia Wentrup ◽  
Rebecca Ansorge ◽  
Miriam Sadowski ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Digestive Tract ◽  
Microbial Consortium ◽  
Phylogenetic Analyses ◽  
Genetic Exchange ◽  
High Fidelity ◽  
Bacterial Symbionts ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
The Stability

AbstractIn obligate symbioses, partner fidelity plays a central role in maintaining the stability of the association across multiple host generations. Fidelity has been well studied in hosts with a very restricted diversity of symbionts, but little is known about how fidelity is maintained in hosts with multiple co-occurring symbionts. The marine annelid Olavius algarvensis lives in an obligate association with at least five co-occurring bacterial symbionts that are inherited vertically. The symbionts so efficiently supply their hosts with nutrition that these worms have completely reduced their mouth and digestive tract. Here, we investigated partner fidelity in the O. algarvensis symbiosis by sequencing the metagenomes of 80 host individuals from two mitochondrial lineages and two locations in the Mediterranean. Comparative phylogenetic analyses of mitochondrial and symbiont genotypes based on single nucleotide polymorphisms revealed high fidelity for the primary symbiont that dominated the microbial consortium of all 80 O. algarvensis individuals. In contrast, the secondary symbionts of O. algarvensis, which occurred in lower abundance and were not always present in all host individuals, showed only intermediate to low fidelity. We hypothesize that harbouring symbionts with variable levels of fidelity ensures faithful transmission of the most abundant and nutritionally important symbiont, while flexibility in the acquisition of secondary symbionts enhances genetic exchange and retains ecological and evolutionary adaptability.

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.

Association of MALAT-1 gene single nucleotide polymorphisms with genetic susceptibility to systemic lupus erythematosus

Lupus ◽  
2021 ◽  
pp. 096120332110403
Author(s):  
Yan-Mei Mao ◽  
Yi-Sheng He ◽  
Guo-Cui Wu ◽  
Yu-Qian Hu ◽  
Kun Xiang ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Single Nucleotide Polymorphisms ◽  
Lupus Erythematosus ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Additive Models ◽  
Nucleotide Polymorphisms ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
And Function

Background: Abnormal expression and function of long non-coding RNAs (lncRNAs) are closely related to the pathogenesis of systemic lupus erythematosus (SLE). In this study, we aimed to investigate the association of lncRNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT-1) gene single-nucleotide polymorphisms (SNPs) with susceptibility and clinical characteristics of SLE patients. Methods: A case-control study including 489 SLE patients and 492 healthy controls was conducted. Four MALAT-1 SNPs (rs4102217, rs591291, rs11227209, and rs619586) were genotyped in all subjects, their correlation with SLE susceptibility and clinical characteristics were also analyzed. Results: Results showed that the rs4102217 locus was associated with the risk of SLE. In recessive models, the GG+CG genotype of rs4102217 was associated with the decreased risk of SLE compared to CC ( p = 0.036, OR = 0.348, 95% CI: 0.124–0.975). In additive models, the GG genotype of rs4102217 was associated with the decreased risk of SLE compared to CC ( p = 0.040, OR = 0.355, 95% CI: 0.127–0.996). However, no association was found between MALAT-1 gene polymorphism and clinical manifestations of SLE (all p > 0.05). Conclusion: In summary, MALAT-1 rs4102217 is associated with susceptibility to SLE, suggesting that MALAT-1 may play a role in SLE.

scholarly journals Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes

2002 ◽  
Vol 2 (4) ◽  
pp. 236-242 ◽  
Author(s):  
G Hu ◽  
B Modreck ◽  
H M F Riise Stensland ◽  
J Saarela ◽  
P Pajukanta ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Human Genes

scholarly journals Single Nucleotide Polymorphisms in SAR1A Codon Regions Associated with Hydroxyurea Response in Sickle Cell Disease and Potentially Influenced in Mirnas Binding

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 987-987
Author(s):  
Chutima Kumkhaek ◽  
Christine Kim ◽  
James G. Taylor ◽  
Jianqiong Zhu ◽  
Wulin Aerbajinai ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Single Nucleotide Polymorphisms ◽  
Sickle Cell ◽  
Genetic Variants ◽  
Clinical Heterogeneity ◽  
Nucleotide Polymorphisms ◽  
Cell Disease ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Hbf Induction

Therapeutic induction of fetal hemoglobin (HbF) is one of the most promising approaches to ameliorate the severity of hemoglobinopathies such as β-thalassemia and sickle cell disease (SCD). Among HbF induction agents, hydroxyurea (HU) was approved by FDA to use for the treatment of SCD. However, there is variability in HU response among SCD patients. Individual genetic variants are mostly influenced in differences in pharmacological responsiveness to drug. We previously reported that the small guanosine triphosphate (GTP)-binding protein, secretion-associated and RAS-related (SAR1A) protein was a specific HU-inducible gene. The single nucleotide polymorphisms (SNPs) in SAR1A promoter also contributed to inter-individual differences in regulation of HbF expression and SCD patient responses to HU. Additionally, microRNAs (miRNAs) have been identified as potential key genes that regulate HbF induction and related with the clinical heterogeneity of SCD. Here, we demonstrate that SNPs within SAR1A coding regions are associated with differences in individual responses to HU therapy and potentially influenced in miRNAs binding. In order to determine SNPs in SAR1A coding regions, we sequenced all 8 exons of SAR1A gene in 32 SCD patients. Three (rs56090714, rs3812693, rs56381518)and twenty-four (rs78341510, rs114346554, rs72807054, rs1370644731, rs1491135303, rs1412150420, rs1423653432, rs1480964347, rs1479076497, rs1180306451, rs1482823291, rs1275470720, rs201493587, rs1470556171, rs2394643, rs80028936, rs7919647, rs115340990, rs15801, rs1046747, rs79535872, rs7653, rs1280408553, and rs10586) variants were identified in codon 1 and 8, respectively. Interestingly, codon 2 was found a novel mutation at position 119, C>A. No mutation was detected in codon 3, 4, 5, 6 and 7. Among these SNPs, rs7919647 at codon 8 was highest frequency (96.9%) in SCD patients. Next, we analyzed the association of SNPs and clinical and laboratory profiles using multiple regression. The rs56381518, rs1479076497, rs1180306451, rs1482823291, rs2394643 and rs115340990 showed significant association with total Hb levels after HU treatment in SCD patients. Only rs1180306451 was associated with absolute HbF levels (P= 0.0161). While no SNPs were observed significant association with HbF, F-cell or F-reticulocyte levels. In addition, the potential miRNAs binding to SNPs at 3'UTR regions were determined by using MicroSNiPer. We found miRNAs that may bind to SNPs as shown in Table 1. miR-625-5p, miR-5003-3p, miR-1236-5p, miR4271, miR-345-3p, miR4725-3p, miR-378a-3p, miR-548q and miR-135a-3p were previously identified only in mild-SCD patients. Furthermore, it has been reported that miR-1200 and miR-19b-1-5p were differentially expressed in high HbF levels condition. Our findings highlight the importance of genetic variants in SAR1A codon region that may predict the hydroxyurea response in SCD patients and miRNAs role in clinical heterogeneity of SCD. Disclosures No relevant conflicts of interest to declare.

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.

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