Recent Transposition of an LTR-Retrotransposon in the Gene Coding for S Receptor Kinase is Responsible for a Novel Self-Compatible Phenotype of Radish (Raphanus Sativus L.)

Abstract Self-incompatibility (SI) responses of radish (Raphanus sativus L.) are determined by two tightly linked genes encoding an S receptor kinase (SRK) and an S-locus cysteine-rich protein/S locus protein 11 (SCR/SP11), respectively. A radish showing an almost self-compatible (SC) phenotype was identified in this study. Inheritance patterns showed that this SC phenotype was dominant over an SI phenotype. In addition, this SC phenotype co-segregated with an S haplotype in an F2 population. This SC radish contained an RsS-26 haplotype in which duplicate SRK-like genes were previously identified. Full-length sequences of two SRK-like genes of 18,133-bp and 6,200-bp in length were obtained from radish with the RsS-26 haplotype (designated as RsSRK-26-1 and RsSRK-26-2, respectively). Duplicate SCR/SP11-like genes were also identified in the radish with the RsS-26 haplotype. Phylogenetic analyses indicated that both duplicate SRK-like and SCR/SP11-like genes were closely related to other known SRK and SCR/SP11 genes, respectively. No critical mutation was found in the coding region of SRK-like or SCR/SP11-like gene. However, a 4,146-bp intact LTR-retrotransposon was identified in the third intron of RsSRK-26-1 of the SC radish. Interestingly, this LTR-retrotransposon was not detected in three other breeding lines containing the same RsS-26 haplotype. Except for this LTR-retrotransposon, only two single nucleotide polymorphisms (SNPs) were identified in intronic regions between normal and mutant RsSRK-26-1 alleles. While normal transcription was observed for radish showing RsSRK-26-1 and SI phenotypes in these three breeding lines, no transcript of RsSRK-26-1 was detected in the SC radish, suggesting that recent transposition of an LTR-retrotransposon in the RsSRK-26-1 gene might be responsible for the SC phenotype of radish.

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Single Nucleotide Polymorphisms (SNPs) Detected in the gbpC Gene Coding Region of Streptococcus mutans

Journal of Oral Biosciences ◽

10.1016/s1349-0079(05)80025-8 ◽

2005 ◽

Vol 47 (2) ◽

pp. 171-174 ◽

Cited By ~ 1

Author(s):

Yutaka Sato ◽

Kazuko Okamoto-Shibayamal ◽

Akiyoshi Kagami ◽

Yasuhito Yamamoto ◽

Harutoshi Kizaki

Keyword(s):

Single Nucleotide Polymorphisms ◽

Streptococcus Mutans ◽

Nucleotide Polymorphisms ◽

Coding Region ◽

Single Nucleotide ◽

Gene Coding

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In Silico Analysis of Coding/Noncoding SNPs of Human RETN Gene and Characterization of Their Impact on Resistin Stability and Structure

Journal of Diabetes Research ◽

10.1155/2019/4951627 ◽

2019 ◽

Vol 2019 ◽

pp. 1-9 ◽

Cited By ~ 4

Author(s):

Lamiae Elkhattabi ◽

Imane Morjane ◽

Hicham Charoute ◽

Soumaya Amghar ◽

Hind Bouafi ◽

...

Keyword(s):

3D Structure ◽

In Silico Analysis ◽

Metabolic Phenotype ◽

Nucleotide Polymorphisms ◽

Coding Region ◽

Single Nucleotide ◽

Functional Studies ◽

Gene Coding ◽

Human Resistin

Resistin (RETN) is a gene coding for proinflammatory adipokine called resistin secreted by macrophages in humans. Single nucleotide polymorphisms (SNPs) in RETN are linked to obesity and insulin resistance in various populations. Using dbSNP, 78 nonsynonymous SNPs (nsSNPs) were retrieved and tested on a PredictSNP 1.0 megaserver. Among these, 15 nsSNPs were predicted as highly deleterious and thus subjected to further analyses, such as conservation, posttranscriptional modifications, and stability. The 3D structure of human resistin was generated by homology modeling using Swiss model. Root-mean-square deviation (RMSD), hydrogen bonds (h-bonds), and interactions were estimated. Furthermore, UTRscan served to identify UTR functional SNPs. Among the 15 most deleterious nsSNPs, 13 were predicted to be highly conserved including variants in posttranslational modification sites. Stability analysis predicted 9 nsSNPs (I32S, C51Y, G58E, G58R, C78S, G79C, W98C, C103G, and C104Y) which can decrease protein stability with at least three out of the four algorithms used in this study. These nsSNPs were chosen for structural analysis. Both variants C51Y and C104Y showed the highest RMS deviations (1.137 Å and 1.308 Å, respectively) which were confirmed by the important decrease in total h-bonds. The analysis of hydrophobic and hydrophilic interactions showed important differences between the native protein and the 9 mutants, particularly I32S, G79C, and C104Y. Six SNPs in the 3′UTR (rs920569876, rs74176247, rs1447199134, rs943234785, rs76346269, and rs78048640) were predicted to be implicated in polyadenylation signal. This study revealed 9 highly deleterious SNPs located in the human RETN gene coding region and 6 SNPs within the 3′UTR that may alter the protein structure. Interestingly, these SNPs are worth to be analyzed in functional studies to further elucidate their effect on metabolic phenotype occurrence.

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Development of Molecular Markers for Predicting Radish (Raphanus sativus) Flesh Color Based on Polymorphisms in the RsTT8 Gene

Plants ◽

10.3390/plants10071386 ◽

2021 ◽

Vol 10 (7) ◽

pp. 1386

Author(s):

Soyun Kim ◽

Keunho Yun ◽

Han Yong Park ◽

Ju Young Ahn ◽

Ju Yeon Yang ◽

...

Keyword(s):

Molecular Markers ◽

Raphanus Sativus ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Cosmetic Industry ◽

Natural Colorants ◽

Health Promoting ◽

Primer Sets ◽

Red Radish ◽

Simple Sequence

Red radish (Raphanus sativus L.) cultivars are a rich source of health-promoting anthocyanins and are considered a potential source of natural colorants used in the cosmetic industry. However, the development of red radish cultivars via conventional breeding is very difficult, given the unusual inheritance of the anthocyanin accumulation trait in radishes. Therefore, molecular markers linked with radish color are needed to facilitate radish breeding. Here, we characterized the RsTT8 gene isolated from four radish genotypes with different skin and flesh colors. Sequence analysis of RsTT8 revealed a large number of polymorphisms, including insertion/deletions (InDels), single nucleotide polymorphisms (SNPs), and simple sequence repeats (SSRs), between the red-fleshed and white-fleshed radish cultivars. To develop molecular markers on the basis of these polymorphisms for discriminating between radish genotypes with different colored flesh tissues, we designed four primer sets specific to the RsTT8 promoter, InDel, SSR, and WD40/acidic domain (WD/AD), and tested these primers on a diverse collection of radish lines. Except for the SSR-specific primer set, all primer sets successfully discriminated between red-fleshed and white-fleshed radish lines. Thus, we developed three molecular markers that can be efficiently used for breeding red-fleshed radish cultivars.

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Genetic Variants in Smoking-Related Genes in Two Smoking Cessation Programs: A Cross-Sectional Study

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18126597 ◽

2021 ◽

Vol 18 (12) ◽

pp. 6597

Author(s):

Gloria Pérez-Rubio ◽

Luis Alberto López-Flores ◽

Ana Paula Cupertino ◽

Francisco Cartujano-Barrera ◽

Luz Myriam Reynales-Shigematsu ◽

...

Keyword(s):

Smoking Cessation ◽

Cross Sectional Study ◽

Nucleotide Polymorphisms ◽

Sectional Study ◽

Cross Sectional ◽

Single Nucleotide ◽

Genotype Frequencies ◽

Quitting Smoking ◽

Genes Encoding ◽

Genomic Regions

Previous studies have identified variants in genes encoding proteins associated with the degree of addiction, smoking onset, and cessation. We aimed to describe thirty-one single nucleotide polymorphisms (SNPs) in seven candidate genomic regions spanning six genes associated with tobacco-smoking in a cross-sectional study from two different interventions for quitting smoking: (1) thirty-eight smokers were recruited via multimedia to participate in e-Decídete! program (e-Dec) and (2) ninety-four attended an institutional smoking cessation program on-site. SNPs genotyping was done by real-time PCR using TaqMan probes. The analysis of alleles and genotypes was carried out using the EpiInfo v7. on-site subjects had more years smoking and tobacco index than e-Dec smokers (p < 0.05, both); in CYP2A6 we found differences in the rs28399433 (p < 0.01), the e-Dec group had a higher frequency of TT genotype (0.78 vs. 0.35), and TG genotype frequency was higher in the on-site group (0.63 vs. 0.18), same as GG genotype (0.03 vs. 0.02). Moreover, three SNPs in NRXN1, two in CHRNA3, and two in CHRNA5 had differences in genotype frequencies (p < 0.01). Cigarettes per day were different (p < 0.05) in the metabolizer classification by CYP2A6 alleles. In conclusion, subjects attending a mobile smoking cessation intervention smoked fewer cigarettes per day, by fewer years, and by fewer cumulative pack-years. There were differences in the genotype frequencies of SNPs in genes related to nicotine metabolism and nicotine dependence. Slow metabolizers smoked more cigarettes per day than intermediate and normal metabolizers.

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Genotyping-by-Sequencing of Gossypium hirsutum Races and Cultivars Uncovers Novel Patterns of Genetic Relationships and Domestication Footprints

Evolutionary Bioinformatics ◽

10.1177/1176934319889948 ◽

2019 ◽

Vol 15 ◽

pp. 117693431988994

Author(s):

Shulin Zhang ◽

Yaling Cai ◽

Jinggong Guo ◽

Kun Li ◽

Renhai Peng ◽

...

Keyword(s):

Gossypium Hirsutum ◽

Genetic Relationships ◽

Phylogenetic Analyses ◽

Genotyping By Sequencing ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Breeding Programs ◽

Association Analyses ◽

Genome Wide ◽

Candidate Gene Locus

Determining the genetic rearrangement and domestication footprints in Gossypium hirsutum cultivars and primitive race genotypes are essential for effective gene conservation efforts and the development of advanced breeding molecular markers for marker-assisted breeding. In this study, 94 accessions representing the 7 primitive races of G hirsutum, along with 9 G hirsutum and 12 Gossypium barbadense cultivated accessions were evaluated. The genotyping-by-sequencing (GBS) approach was employed and 146 558 single nucleotide polymorphisms (SNP) were generated. Distinct SNP signatures were identified through the combination of selection scans and association analyses. Phylogenetic analyses were also conducted, and we concluded that the Latifolium, Richmondi, and Marie-Galante race accessions were more genetically related to the G hirsutum cultivars and tend to cluster together. Fifty-four outlier SNP loci were identified by selection-scan analysis, and 3 SNPs were located in genes related to the processes of plant responding to stress conditions and confirmed through further genome-wide signals of marker-phenotype association analysis, which indicate a clear selection signature for such trait. These results identified useful candidate gene locus for cotton breeding programs.

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Single nucleotide polymorphisms of CBF4 locus region of Arabidopsis thaliana correspond to drought tolerance

Chinese Journal of Agricultural Biotechnology ◽

10.1079/cjb200440 ◽

2004 ◽

Vol 1 (3) ◽

pp. 181-190 ◽

Cited By ~ 1

Author(s):

Hao Gang-Ping ◽

Wu Zhong-Yi ◽

Chen Mao-Sheng ◽

Cao Ming-Qing ◽

Dominique Brunel ◽

...

Keyword(s):

Arabidopsis Thaliana ◽

Drought Tolerance ◽

World Wide ◽

Nucleotide Variation ◽

Nucleotide Polymorphisms ◽

Water Deficiency ◽

Coding Region ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Adaptation To Drought

AbstractThe levels of drought tolerance and nucleotide polymorphism at the CBF4 locus were examined in a world-wide sample of 17 core accessions of Arabidopsis thaliana. The results showed that different accessions exhibited considerable differences in adaptation to drought stress. Compared with Columbia accession, the frequency of nucleotide polymorphism at the CBF4 locus of 25av, 203av and 244av accessions, including single nucleotide polymorphism (SNP) and insertion/deletion (Indel), was high, on average 1 SNP per 35.8 bp and 1 Indel per 143 bp. No significance in all regions of Tajima's D test indicated that the neutral mutation hypothesis could explain the nucleotide polymorphism in this CBF4 gene region. The higher polymorphism was the result of purification selection. Nucleotide polymorphism in the non-coding region was three times higher than in the coding region. This might indicate a recent relaxation of selection pressures on the non-coding region of CBF4 gene. In the coding region of CBF4, SNP frequency was 1 SNP per 96.4 bp and one non-synonymous mutation was detected from 25av, 203av and 244av accessions: the amino acid variation gly↔val at position 205, caused by the nucleotide variation G↔T at position 1034 (corresponding to the nucleotide at position 19 696 of GenBank accession no. AB015478 as 1). Furthermore, four differential SNPs were discovered in haplotype 6 constituted by 203av, one of them located in the 3′ non-coding region (A↔C at position 1106) and the others in the 5′ non-coding region (A↔G, A↔C and G↔A at positions 27, 129 and 171, respectively). The drought tolerance assay indicated that accession 203av was the best at tolerating water deficiency. We propose that haplotype 6 is consistent with its drought tolerance.

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

BMC Cancer ◽

10.1186/s12885-019-6133-z ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 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.

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Screening of Three Different Alleles of mtDNA (G709A, G3496T, A3537G) in Subpopulation of UKM Students

Malaysian Journal of Medical and Biological Research ◽

10.18034/mjmbr.v5i1.447 ◽

2018 ◽

Vol 5 (1) ◽

pp. 37-40

Author(s):

Seri Mirianti Ishar ◽

Jeyaganesan Pillay a/l Balaraman ◽

Muhammad Jefri Mohd Yusof ◽

Khairul Osman ◽

Lee Loong Chuen

Keyword(s):

Uv Light ◽

Forensic Genetics ◽

Nucleotide Polymorphisms ◽

Coding Region ◽

Documentation System ◽

Single Nucleotide ◽

National University ◽

Pcr Products ◽

Malay Population ◽

Mutation Allele

Human DNA consists of nucleus DNA (nDNA) and mitochondrial DNA (mtDNA). Both are valuable in medicine and forensic genetics but in this project, single nucleotide polymorphisms (SNPs) in mtDNA are used to trace the mutation occurred. Mutations in the sequence of alleles can lead to haplogroup variation and also certain diseases. The purpose of this study is to screen of mutations on alleles G709A, G3496T, and A3537G in Malay population of The National University of Malaysia (UKM) students. These SNPs lie in the ND1 (nitrogen dehydrogenase subunit 1) coding region, and the reports state that these three alleles are prone to mutate. From MitoMap Web site, the mutations of these alleles are reported to have potential in causing several diseases with the collaboration of other SNPs mutation. Allele G709A is reported to have an association with hearing loss and Leber Hereditary Optic Neuropathy (LHON) while allele G3496T is associated to LHON only. Allele A3537G is related to diabetes. A total of 100 DNA samples were collected from Malay students of UKM and preserved on FTA card to be purified later. The concentration of the DNA on the purified FTA card was between 10μM to 20μM. An attempt was made by amplifying those three loci from the genomic DNA. The amplified product was detected and separated using 1% gel electrophoresis. Before sequencing, the PCR products were visualized under UV light using gel documentation system. All PCR products were sequenced to detect the mutation on every single position chosen. From the alignment of sequencing results, allele G709A and allele G3496T showed no mutation. Meanwhile four samples from alleles A3537G has the mutation. From the results obtained, it seems that mutations are rare in all selected alleles. It is recommended to increase the sample size and alleles selected in the future to increase the strength of the study. This study also should be applied to other populations in Malaysia such as Chinese and Indian.

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