Eggplant(Solanum melongena L.)is a globally important vegetable crop,renowned for its nutritional value and economic significance.It is abundant in bioactive compounds such as anthocyanins and chlorogenic acid,which h...Eggplant(Solanum melongena L.)is a globally important vegetable crop,renowned for its nutritional value and economic significance.It is abundant in bioactive compounds such as anthocyanins and chlorogenic acid,which have been associated with multiple health-promoting properties(Azuma et al.,2008;Gurbuz et al.,2018).Given its significant hybrid vigor,F1 hybrid varieties are widely preferred in commercial cultivation(Mistry et al.,2018).However,traditional breeding practices predominantly rely on phenotypic selection,a process that is not only labor-intensive but also time-consuming.展开更多
Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic qu...Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population.展开更多
Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on sp...Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on specific human leukocyte antigen(HLA)alleles,including rs2856718 of HLA-DQ and rs3077 and rs9277535 of HLA-DP,which may predispose individuals to cirrhosis and liver cancer,based on multi-clustering analysis.Here,we discuss the feasibility of this approach and identify key areas for further investigation,aiming to offer insights for advancing clinical practice and research in liver disease and related cancers.展开更多
With completion of the Populus genome sequencing project and the availability of many expressed sequence tags （ESTs） databases in forest trees, attention is now rapidly shifting towards the study of individual genet...With completion of the Populus genome sequencing project and the availability of many expressed sequence tags （ESTs） databases in forest trees, attention is now rapidly shifting towards the study of individual genetic variation in natural populations. The most abundant form of genetic variation in many eukaryotic species is represented by single nucleotide polymorphisms （SNPs）, which can account for heritable inter-individual differences in complex phenotypes. Unlike humans, the linkage disequilibrium （LD） rapidly decays within candidate genes in forest trees. Thus, SNPs-based candidate gene association studies are considered to be a most effective approach to dissect the complex quantitative traits in forest trees. The present study demonstrates that LD mapping can be used to identify alleles associated with quantitative traits and suggests that this new approach could be particularly useful for performing breeding programs in forest trees. In this review, we will describe the fundamentals, patterns of SNPs distribution and frequency, summarize recent advances in SNPs discovery and LD and comment on the application of LD in the dissection of complex quantitative traits in forest tress. We also put forward the outlook for future SNPs-based association analysis of quantitative traits in forest trees.展开更多
Silent information regulator 2 （Sir2） proteins, or sirtuins, are nicotine adenine dinucleotide （NAD）-dependent deacetylases that connect metabolism with longevity in lower organisms. In mammals, there are seven Si...Silent information regulator 2 （Sir2） proteins, or sirtuins, are nicotine adenine dinucleotide （NAD）-dependent deacetylases that connect metabolism with longevity in lower organisms. In mammals, there are seven Sir2 homologs, namely, silent information regulators （SIRT1-7）. SIRT4 and SIRT7 genes play a crucial role in regulating lipid metabolism, cellular growth and metabolism. This suggests that they are potential candidate genes for affecting body size and meat quality traits in animals. Hence, this study aimed to detect genetic variations of both SIRT4 and SIRT7 bovine genes in Qinchuan cattle, and to evaluate the effect of these variations on economically important body size and meat quality traits. Expression analysis using quantitative real-time PCR （qPCR） indicated that SIRT4 and SIRT7 were broadly expressed in all thirteen studied tissues. The expression of SIRT4 was higher in liver, muscle, and in subcutaneous fat tissue. In the case of SIRT7, the expression was higher in lung, abomasum, and subcutaneous fat. Using DNAsequencing, a total of three single nucleotide polymorphisms （SNPs） were identified within SIRT4 and SIRT7 genes in 468 Qinchuan cattle. These included one novel SNP within 3＇ untranslated regions （UTR） of SIRT4 （SNP1： g. 13915A〉G） and two novel synonymous substitutions in SIRT7 （SNP2： g.3587C〉T and SNP3： g.3793T〉C）. Statistical analyses indicated that all three SNPs could significantly influence some body size and meat quality traits in Qinchuan cattle. These novel findings will provide a background for application of bovine SIRT4 and SIRT7 genes in the selection program of Chinese cattle.展开更多
The worldwide chicken gene pool encompasses a remarkable,but shrinking,number of divergently selected breeds of diverse origin.This study was a large-scale genome-wide analysis of the landscape of the complex molecula...The worldwide chicken gene pool encompasses a remarkable,but shrinking,number of divergently selected breeds of diverse origin.This study was a large-scale genome-wide analysis of the landscape of the complex molecular architecture,genetic variability,and detailed structure among 49 populations.These populations represent a significant sample of the world's chicken breeds from Europe(Russia,Czech Republic,France,Spain,UK,etc.),Asia(China),North America(USA),and Oceania(Australia).Based on the results of breed genotyping using the Illumina 60K single nucleotide polymorphism(SNP)chip,a bioinformatic analysis was carried out.This included the calculation of heterozygosity/homozygosity statistics,inbreeding coefficients,and effective population size.It also included assessment of linkage disequilibrium and construction of phylogenetic trees.Using multidimensional scaling,principal component analysis,and ADMIXTURE-assisted global ancestry analysis,we explored the genetic structure of populations and subpopulations in each breed.An overall 49-population phylogeny analysis was also performed,and a refined evolutionary model of chicken breed formation was proposed,which included egg,meat,dual-purpose types,and ambiguous breeds.Such a large-scale survey of genetic resources in poultry farming using modern genomic methods is of great interest both from the viewpoint of a general understanding of the genetics of the domestic chicken and for the further development of genomic technologies and approaches in poultry breeding.In general,whole genome SNP genotyping of promising chicken breeds from the worldwide gene pool will promote the further development of modern genomic science as applied to poultry.展开更多
Objective Findings from the previous studies have suggested a relationship between ectonucleotide pyrophosphatase /phosphodiesterase 1 （ENPP‐1） or plasma cell membrane glycoprotein 1 （PC‐1） gene single nucleotid...Objective Findings from the previous studies have suggested a relationship between ectonucleotide pyrophosphatase /phosphodiesterase 1 （ENPP‐1） or plasma cell membrane glycoprotein 1 （PC‐1） gene single nucleotide polymorphism （K121Q, rs1044498） and genetic susceptibility to obesity. However, such relationship is not reproduced by some currently available studies. In this context, the present study is aimed to quantitatively analyze the association of K121Q variant with obesity in all published case‐control studies in European adult populations. Methods Published literature from PubMed, EMBASE, and ISI web of science databases were retrieved. The studies evaluating the association of ENPP1/PC1 gene K121Q polymorphism with obesity were included, in which sufficient data were presented to calculate the odds ratio （OR） with 95% confidence intervals （CIs）. Results Ten case‐control studies meeting the inclusion criteria identified a total of 24,324 subjects including 11,372 obese and 12,952 control subjects. The meta‐analysis results showed a statistically significant association of K121Q with obesity [OR （95%CI）： 1.25 （1.04‐1.52） P=0.021] under a recessive model of inheritance （QQ vs. KK＋KQ） without heterogeneity or publication bias. Conclusions The results from the present study have indicated that ENPP1/PC1 Q121 variant may increase the risk of obesity and that more well‐designed studies based on a larger population will be required to further evaluate the role of ENPP1/PC1 gene K121Q polymorphism in obesity and other related metabolic syndromes.展开更多
AIM： To identify the contribution of CDKAL1 to the development of diabetic retinopathy（DR） in Chinese population.·METHODS： A case-control study was performed to investigate the genetic association between DR ...AIM： To identify the contribution of CDKAL1 to the development of diabetic retinopathy（DR） in Chinese population.·METHODS： A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus（T2DM）. A welldefined population with T2 DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant（rs10946398） of CDKAL1. Genotyping was performed by i PLEX technology. The association between rs10946398 and T2 DM was assessed by univariate and multivariate logistic regression（MLR） analysis.· RESULTS： There were significant differences in C allele frequencies of rs10946398（CDKAL1） between control and DR groups（45.06% versus 55.00%, P 〈0.05）.The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes.·CONCLUSION： Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.展开更多
To better understand the genetic diversity and population structure of broccoli cultivars planted in China,a total of 161 representative broccoli cultivars in the past 25 years were collected and analysed based on sin...To better understand the genetic diversity and population structure of broccoli cultivars planted in China,a total of 161 representative broccoli cultivars in the past 25 years were collected and analysed based on single nucleotide polymorphism(SNP)markers.Ten pairs of primers with good polymorphism and high resolution were screened from 315 pairs of SNP primers by 3 broccoli accessions(inbred lines)with different phenotypes and maturity.The 10 pairs of SNP primers were selected,producing 78 alleles.The diversity analysis indicated that the polymorphism information content(PIC)of SNP primer ranged from 0.64 to 0.90.The observed number of alleles(Na)was 2.00,the effective number of alleles(Ne)was 1.11–2.00,the Nei’s gene diversity(H)was 0.10–0.50,and Shannon information index(I)was 0.20–0.70 using PopGene32 software.The clustering results showed that the 161 broccoli cultivars could be divided into 4 major subgroups(A,B,C and D),foreign cultivars were all assigned to subgroup A,and domestic cultivars were assigned to 3 subgroups of B,C,and D.This study indicated that some domestic cultivars and foreign cultivars were similar in genetic background,but most domestic cultivars were still different from the Japanese cultivars.When K=2,the population structure result presented that 161 broccoli cultivars could be divided into 1 simple group(2 groups)and 1 mixed group.When Q≥0.6,143(88.82%)broccoli cultivars belonged to the simple groups.In simple groups 68(42.24%)broccoli cultivars of group 1 were derived from Japan,the United States,Switzerland,the Netherlands,China-Taiwan,and China-Mainland;75(46.58%)broccoli cultivars belonged to group 2;when Q<0.6,18(11.18%)broccoli cultivars belonged to the mixed groups.This study is helpful to understand the diversity and resolution of broccoli cultivars from worldwide,which is beneficial to plant breeding and materials innovation.And meanwhile,this result is also used for construction of broccoli fingerprint serving for cultivar identification.展开更多
Fructans are major nonstructural carbohydrates in wheat （Triticum aestivum L.）. Fructan 1-fructosyltransferase （1-FFT） is the key enzyme in fructan biosynthesis. In the present study, 96 sequence variants were det...Fructans are major nonstructural carbohydrates in wheat （Triticum aestivum L.）. Fructan 1-fructosyltransferase （1-FFT） is the key enzyme in fructan biosynthesis. In the present study, 96 sequence variants were detected in the 1-FFT-A 1 gene among 26 wheat accessions including UR208, and 15 of them result in amino acid substitutions, forming four haplotypes. Two markers M39 and M2164 were developed based on the InDe121-39 and SNP-2164 polymorphisms to distinguish the three haplotypes in the 1-FFT-AI. 1-FFT-A1 was located on chromosome 4A using marker M2164 and was flanked by markers Xcwm27 and 6-SFT-A 1. By association analysis using a natural wheat population consisted of 154 accessions, the results showed that the two markers were significantly associated with water-soluble carbohydrate （WSC） content in the lower internode stem and total stem at the early and middle grain filling stages, 1 000-grain weight （TGW） at different grain filling stages and peduncle length （PLE）. Comparison of the effects of three haplotypes on agronomic traits indicated that TGW, PLE and total number of spikelets per spike （TNSS）were significantly influenced by haplotypes. Haplll showed a significant positive effect on TGW, PLE and TNSS.展开更多
A total of 64 patients with β-lactam allergy and 30 control subjects were enrolled in a case-control study. This study is aimed to analyze the relationship between β-lactam allergy and 10 single nucleotide polymorph...A total of 64 patients with β-lactam allergy and 30 control subjects were enrolled in a case-control study. This study is aimed to analyze the relationship between β-lactam allergy and 10 single nucleotide polymorphisms（SNPs） in interleukin-10（IL-10）, IL-13, IL-4Rα, high-affinity immunoglobulin E-receptor β chain（FcεRIβ）, interferon γ receptor 2（IFNGR2）, and CYP3A4, and within the Han Chinese population of Northwest China. Genotyping for the SNPs was conducted using the Sequenom Mass ARRAY platform. SPSS 17.0 was employed to analyze the statistical data and SHEsis was used to perform the haplotype reconstruction and analyze linkage disequilibrium of SNPs of IL-10 and IL-13. The results showed that the genotype distribution of CYP3A4 rs2242480/CT differed significantly between case and control groups of males（P=0.022; odds ratio（OR）=0.167, 95% confidence interval（CI）： 0.032–0.867）. Further analysis showed that CCA, CCG, and TAA haplotypes of IL-10 had no significant correlation in patients with β-lactam allergy. The correlation between CCT and CAC haplotypes of IL-13 and β-lactam allergy needs to be further studied. The analysis did not reveal any differences in the distribution of others gene polymorphisms between cases and controls.展开更多
Pacific white shrimp has become a major aquaculture and fishery species worldwide.Although a large scale EST resource has been publicly available since 2008,the data have not yet been widely used for SNP discovery or ...Pacific white shrimp has become a major aquaculture and fishery species worldwide.Although a large scale EST resource has been publicly available since 2008,the data have not yet been widely used for SNP discovery or transcriptome-wide assessment of selective pressure.In this study,a set of 155 411 expressed sequence tags(ESTs) from the NCBI database were computationally analyzed and 17 225 single nucleotide polymorphisms(SNPs) were predicted,including 9 546 transitions,5 124 transversions and 2 481 indels.Among the 7 298 SNP substitutions located in functionally annotated contigs,58.4%(4 262) are non-synonymous SNPs capable of introducing amino acid mutations.Two hundred and fifty nonsynonymous SNPs in genes associated with economic traits have been identified as candidates for markers in selective breeding.Diversity estimates among the synonymous nucleotides were on average 3.49 times greater than those in non-synonymous,suggesting negative selection.Distribution of non-synonymous to synonymous substitutions(Ka/Ks) ratio ranges from 0 to 4.01,(average 0.42,median 0.26),suggesting that the majority of the affected genes are under purifying selection.Enrichment analysis identified multiple gene ontology categories under positive or negative selection.Categories involved in innate immune response and male gamete generation are rich in positively selected genes,which is similar to reports in Drosophila and primates.This work is the first transcriptome-wide assessment of selective pressure in a Penaeid shrimp species.The functionally annotated SNPs provide a valuable resource of potential molecular markers for selective breeding.展开更多
Lipid transfer protein （LTP） is a kind of small molecular protein, which is named for its ability to transfer lipid between cell membranes. It has been proved that the protein is involved in the responding to abioti...Lipid transfer protein （LTP） is a kind of small molecular protein, which is named for its ability to transfer lipid between cell membranes. It has been proved that the protein is involved in the responding to abiotic stresses. In this study, TaLTP-s, a genomic sequence of TaLTP was isolated from A genome of wheat （Triticum aestivum L）. Sequencing analysis exhibited that there was no diversity in the coding region of TaLTP-s, but seven single nucleotide polymorphisms （SNPs） and 1 bp insertion/deletion （InOel） were detected in the promoter regions of different wheat accessions. Nucleotide diversity （T1） in the region was 0.00033, and linkage disequilibrium （LD） extended over almost the entire TaLTP-s region in wheat. The dCAPS markers based on sequence variations in the promoter regions （SNP-207 and SNP-1696） were developed, and three haplotypes were identified based on those markers. Association analysis between the haplotypes and agronomic traits of natural population consisted of 262 accessions showed that three haplotypes of TaLTP-s were significantly associated with plant height （PH）. Among the three haplotypes, Haplll is considered as the superior haplotype for increasing plant height in the drought stress environments. The G variance at the position of 207 bp could be a superior allele that significantly increased number of spikes per plant （NSP）. The functional marker of TaLTP-s provide a tool for marker-assisted selection regarding to plant height and number of spikelet per plant in wheat.展开更多
Current methods for single nucleotide polymorphism （SNP） analysis are timeconsuming and complicated. We aimed at development of one-step real-time fluorescence mutant-allele-specific amplification （MASA） method fo...Current methods for single nucleotide polymorphism （SNP） analysis are timeconsuming and complicated. We aimed at development of one-step real-time fluorescence mutant-allele-specific amplification （MASA） method for rapid SNP analysis. The method is a marriage of two technologies： MASA primers for target DNA and a double-stranded DNA-selective fluorescent dye, SYBR Green I. Genotypes are separated according to the different threshold cycles of the wild-type and mutant primers. K-ras oncogene was used as a target to validate the feasibility of the method. The experimental results showed that the different genotypes can be clearly discriminated by the assay. The real-time fluorescence MASA method will have an enormous potential for fast and reliable SNP analysis due to its simplicity and low cost.展开更多
Stemphylium leaf spot, caused by Stemphylium botryosum f. sp. spinacia, is an important fungal disease of spinach (Spinacia oleracea L.). The aim of this study was to conduct association analysis to identify single nu...Stemphylium leaf spot, caused by Stemphylium botryosum f. sp. spinacia, is an important fungal disease of spinach (Spinacia oleracea L.). The aim of this study was to conduct association analysis to identify single nucleotide polymorphism (SNP) markers associated with Stemphylium leaf spot resistance in spinach. A total of 273 spinach genotypes, including 265 accessions from the USDA spinach germplasm collection and eight commercial cultivars, were used in this study. Phenotyping for Stemphylium leaf spot resistance was evaluated in greenhouse;genotyping was conducted using genotyping by sequencing (GBS) with 787 SNPs;and single marker regression, general linear model, and mixed linear model were used for association analysis of Stemphylium leaf spot. Spinach genotypes showed a skewed distribution for Stemphylium leaf spot resistance, with a range from 0.2% to 23.5% disease severity, suggesting that Stemphylium leaf spot resistance in spinach is a complex, quantitative trait. Association analysis indicated that eight SNP markers, AYZV02052595_115, AYZV02052595_122, AYZV02057770_10404, AYZV02129827_205, AYZV0-2152692_182, AYZV02180153_337, AYZV02225889_197, and AYZV02258563_213 were strongly associated with Stemphylium leaf spot resistance, with a Log of the Odds (LOD) of 2.5 or above. The SNP markers may provide a tool to select for Stemphylium leaf spot resistance in spinach breeding programs through marker-assisted selection (MAS).展开更多
Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseas...Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseases. We aim at identifying Single Nucleotide Polymorphism (SNP) difference of hURAT1 (rs7932775) and ABCG2 (rs3825016) on CKD patient with hyperuricemia and/or gout. Methods: All forty-two CKD patients were divided into two groups: hyperuricemia, and control group. 24 hours urine sample and serum were prepared for testing biochemistry parameters. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method is used to analyze hURAT1 and ABCG2 single nucleotide polymorphisms in different groups. Results: 17 patients have CT SNP of hURAT1 (rs7932775) and 13 patients have CT SNP of ABCG2 (rs3825016) in hyperuricemia group, while only 5 persons and 6 persons have the same mutations in control group respectively. 7 patients have CT SNP of both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group, while only 2 persons have the same mutations in control group. CT mutation rates of hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 60.7% (17/28) and 50% (13/28) respectively, higher than that of control group (35.7% (5/14) and 42.8% (6/14)). What is more, Double SNP mutations in both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 25% (7/28), higher than that of control group (14.2%, 2/14). Conclusion: There are higher mutation rates of CT SNP in hURAT1 (rs7932775) and/or ABCG2 (rs3825016) in hyperuricemia group. We can conclude that hyperuricemia is a high risk factor in progress of CKD, which is necessary to take measures of decreasing serum uric acid to delay CKD progress.展开更多
OBJECTIVE： To investigate the association of E-selectin $128R polymorphisms with ischemic stroke. DATA SOURCES： A computer-based online search was conducted in PubMed, Elsevier, Ovid Database, the China National Kno...OBJECTIVE： To investigate the association of E-selectin $128R polymorphisms with ischemic stroke. DATA SOURCES： A computer-based online search was conducted in PubMed, Elsevier, Ovid Database, the China National Knowledge Infrastructure, and Wanfang Database between January 1998 and December 2010. STUDY SELECTION： Case-controlled studies addressing the association of the E-selectin polymorphism and ischemic stroke were included in this review. The genotype distribution complied with the Hardy-Weinberg genetic equilibrium. The included reports were evaluated by two authors for strict quality screening. Meta-analysis software, REVMAN 5.1, was used to investigate heterogeneity, pooled odds ratio （OR） and 95% confidence interval （CO in individual studies. MAIN OUTCOME MEASURES： Genotype and allele distributions at the E-selectin $128R site. RESULTS： Six case-controlled studies were included after screening and application of inclusion and exclusion criteria. There was no heterogeneity in the genotype and allele frequencies, and no publication bias was found. Meta-analysis of the pooled data showed that the OR value of the （AC＋CC）/AA genotype was 1.93 （95% CI： 1.55 2.41, Z= 5.80, P 〈 0.000 01）, and the ORfor the C/A allele was 1.80 （95% CI： 1.47 2.22, Z= 5.59, P 〈 0.000 01） in the ischemic stroke group, compared with control group. Results of pooled data in Chinese subjects showed that the ORvalue of （AC＋CC）/AA was 2.36 （95% CI： 1.68 3.31, Z = 4.99, P 〈 0.000 01）, and the OR value of the C/A allele was 2.25 （95% CI： 1.63 3.12, Z= 4.89, P 〈 0.000 01）. CONCLUSION： Polymorphism of E-selectin S128R was significantly associated with susceptibility to ischemic stroke; the AC and CC genotypes as well as the C allele may be factors associated with susceptibility to ischemic stroke.展开更多
基金supported by Yuelushan Laboratory Breeding Program(Grant No.YLS-2025-ZY02013)The Project of National Key Laboratory for Tropical Crop Breeding(Grant No.NKLTCB202341)+4 种基金The New Variety Breeding Project of the Major Science and Technology Projects of Zhejiang(Grant No.2021C02065-1-3)Hunan Provincial Agricultural Science and Technology Innovation Fund Project(Grant No.2025CX115)Key R&D Projects in Hainan Province(Grant No.ZDYF2023XDNY041)Central Public-interest Scientific Institution Basal Research Fund(Grant No.1630062022003)2024 Sanya Technology Stars Program(Grant No.2024KJFX022).
文摘Eggplant(Solanum melongena L.)is a globally important vegetable crop,renowned for its nutritional value and economic significance.It is abundant in bioactive compounds such as anthocyanins and chlorogenic acid,which have been associated with multiple health-promoting properties(Azuma et al.,2008;Gurbuz et al.,2018).Given its significant hybrid vigor,F1 hybrid varieties are widely preferred in commercial cultivation(Mistry et al.,2018).However,traditional breeding practices predominantly rely on phenotypic selection,a process that is not only labor-intensive but also time-consuming.
基金National Key Research and Development Program for Young scientists,Grant/Award Number:2021YFF0703200National Natural Foundation Joint Fund for Regional Innovation and Development,Grant/Award Number:U21A20194+1 种基金National Natural Science Foundation of China,Grant/Award Number:32170540National Key Research and Development Program,Grant/Award Number:2022YFF0711005。
文摘Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population.
基金Supported by National Natural Science Foundation of China,No.32270768,No.82273970,No.32070726,and No.82370715National Key R&D Program of China,No.2023YFC2507904the Innovation Group Project of Hubei Province,No.2023AFA026.
文摘Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on specific human leukocyte antigen(HLA)alleles,including rs2856718 of HLA-DQ and rs3077 and rs9277535 of HLA-DP,which may predispose individuals to cirrhosis and liver cancer,based on multi-clustering analysis.Here,we discuss the feasibility of this approach and identify key areas for further investigation,aiming to offer insights for advancing clinical practice and research in liver disease and related cancers.
文摘With completion of the Populus genome sequencing project and the availability of many expressed sequence tags （ESTs） databases in forest trees, attention is now rapidly shifting towards the study of individual genetic variation in natural populations. The most abundant form of genetic variation in many eukaryotic species is represented by single nucleotide polymorphisms （SNPs）, which can account for heritable inter-individual differences in complex phenotypes. Unlike humans, the linkage disequilibrium （LD） rapidly decays within candidate genes in forest trees. Thus, SNPs-based candidate gene association studies are considered to be a most effective approach to dissect the complex quantitative traits in forest trees. The present study demonstrates that LD mapping can be used to identify alleles associated with quantitative traits and suggests that this new approach could be particularly useful for performing breeding programs in forest trees. In this review, we will describe the fundamentals, patterns of SNPs distribution and frequency, summarize recent advances in SNPs discovery and LD and comment on the application of LD in the dissection of complex quantitative traits in forest tress. We also put forward the outlook for future SNPs-based association analysis of quantitative traits in forest trees.
基金supported by the National 863 Program of China (2013 AA102505)the National Natural Science Foundation of China (31272411 and 31402044)+2 种基金the National Beef and Yak Industrial Technology System,China (CARS-38)the China Postdoctoral Science Foundation (2016M590976)the Key Technologies R&D Program of Henan Province,China (122102110062)
文摘Silent information regulator 2 （Sir2） proteins, or sirtuins, are nicotine adenine dinucleotide （NAD）-dependent deacetylases that connect metabolism with longevity in lower organisms. In mammals, there are seven Sir2 homologs, namely, silent information regulators （SIRT1-7）. SIRT4 and SIRT7 genes play a crucial role in regulating lipid metabolism, cellular growth and metabolism. This suggests that they are potential candidate genes for affecting body size and meat quality traits in animals. Hence, this study aimed to detect genetic variations of both SIRT4 and SIRT7 bovine genes in Qinchuan cattle, and to evaluate the effect of these variations on economically important body size and meat quality traits. Expression analysis using quantitative real-time PCR （qPCR） indicated that SIRT4 and SIRT7 were broadly expressed in all thirteen studied tissues. The expression of SIRT4 was higher in liver, muscle, and in subcutaneous fat tissue. In the case of SIRT7, the expression was higher in lung, abomasum, and subcutaneous fat. Using DNAsequencing, a total of three single nucleotide polymorphisms （SNPs） were identified within SIRT4 and SIRT7 genes in 468 Qinchuan cattle. These included one novel SNP within 3＇ untranslated regions （UTR） of SIRT4 （SNP1： g. 13915A〉G） and two novel synonymous substitutions in SIRT7 （SNP2： g.3587C〉T and SNP3： g.3793T〉C）. Statistical analyses indicated that all three SNPs could significantly influence some body size and meat quality traits in Qinchuan cattle. These novel findings will provide a background for application of bovine SIRT4 and SIRT7 genes in the selection program of Chinese cattle.
基金supported by the Ministry of Science and Higher Education of the Russian Federation(No.075-152021-1037,Internal No.15.BRK.21.0001)。
文摘The worldwide chicken gene pool encompasses a remarkable,but shrinking,number of divergently selected breeds of diverse origin.This study was a large-scale genome-wide analysis of the landscape of the complex molecular architecture,genetic variability,and detailed structure among 49 populations.These populations represent a significant sample of the world's chicken breeds from Europe(Russia,Czech Republic,France,Spain,UK,etc.),Asia(China),North America(USA),and Oceania(Australia).Based on the results of breed genotyping using the Illumina 60K single nucleotide polymorphism(SNP)chip,a bioinformatic analysis was carried out.This included the calculation of heterozygosity/homozygosity statistics,inbreeding coefficients,and effective population size.It also included assessment of linkage disequilibrium and construction of phylogenetic trees.Using multidimensional scaling,principal component analysis,and ADMIXTURE-assisted global ancestry analysis,we explored the genetic structure of populations and subpopulations in each breed.An overall 49-population phylogeny analysis was also performed,and a refined evolutionary model of chicken breed formation was proposed,which included egg,meat,dual-purpose types,and ambiguous breeds.Such a large-scale survey of genetic resources in poultry farming using modern genomic methods is of great interest both from the viewpoint of a general understanding of the genetics of the domestic chicken and for the further development of genomic technologies and approaches in poultry breeding.In general,whole genome SNP genotyping of promising chicken breeds from the worldwide gene pool will promote the further development of modern genomic science as applied to poultry.
文摘Objective Findings from the previous studies have suggested a relationship between ectonucleotide pyrophosphatase /phosphodiesterase 1 （ENPP‐1） or plasma cell membrane glycoprotein 1 （PC‐1） gene single nucleotide polymorphism （K121Q, rs1044498） and genetic susceptibility to obesity. However, such relationship is not reproduced by some currently available studies. In this context, the present study is aimed to quantitatively analyze the association of K121Q variant with obesity in all published case‐control studies in European adult populations. Methods Published literature from PubMed, EMBASE, and ISI web of science databases were retrieved. The studies evaluating the association of ENPP1/PC1 gene K121Q polymorphism with obesity were included, in which sufficient data were presented to calculate the odds ratio （OR） with 95% confidence intervals （CIs）. Results Ten case‐control studies meeting the inclusion criteria identified a total of 24,324 subjects including 11,372 obese and 12,952 control subjects. The meta‐analysis results showed a statistically significant association of K121Q with obesity [OR （95%CI）： 1.25 （1.04‐1.52） P=0.021] under a recessive model of inheritance （QQ vs. KK＋KQ） without heterogeneity or publication bias. Conclusions The results from the present study have indicated that ENPP1/PC1 Q121 variant may increase the risk of obesity and that more well‐designed studies based on a larger population will be required to further evaluate the role of ENPP1/PC1 gene K121Q polymorphism in obesity and other related metabolic syndromes.
基金Supported by National Natural Science Foundation of China(No.81270903)Science and Technology Commission of Shanghai Municipality(No.13140901600)
文摘AIM： To identify the contribution of CDKAL1 to the development of diabetic retinopathy（DR） in Chinese population.·METHODS： A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus（T2DM）. A welldefined population with T2 DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant（rs10946398） of CDKAL1. Genotyping was performed by i PLEX technology. The association between rs10946398 and T2 DM was assessed by univariate and multivariate logistic regression（MLR） analysis.· RESULTS： There were significant differences in C allele frequencies of rs10946398（CDKAL1） between control and DR groups（45.06% versus 55.00%, P 〈0.05）.The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes.·CONCLUSION： Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.
基金funded by the National Key Research and Development Plan(Grant No.2017YFD0101805)the National Science and Technology Foundation(Grant No.31501761)+2 种基金the National Modern Agricultural Industry Technology System Construction Special Fund Project(Grant No.CARS-23-A8)the Chinese Academy of Agricultural Sciences Science and Technology Innovation Project(Grant No.CAAS-ASTIP-IVF-CAAS)the State Key Laboratory of Vegetable Germplasm Innovation.
文摘To better understand the genetic diversity and population structure of broccoli cultivars planted in China,a total of 161 representative broccoli cultivars in the past 25 years were collected and analysed based on single nucleotide polymorphism(SNP)markers.Ten pairs of primers with good polymorphism and high resolution were screened from 315 pairs of SNP primers by 3 broccoli accessions(inbred lines)with different phenotypes and maturity.The 10 pairs of SNP primers were selected,producing 78 alleles.The diversity analysis indicated that the polymorphism information content(PIC)of SNP primer ranged from 0.64 to 0.90.The observed number of alleles(Na)was 2.00,the effective number of alleles(Ne)was 1.11–2.00,the Nei’s gene diversity(H)was 0.10–0.50,and Shannon information index(I)was 0.20–0.70 using PopGene32 software.The clustering results showed that the 161 broccoli cultivars could be divided into 4 major subgroups(A,B,C and D),foreign cultivars were all assigned to subgroup A,and domestic cultivars were assigned to 3 subgroups of B,C,and D.This study indicated that some domestic cultivars and foreign cultivars were similar in genetic background,but most domestic cultivars were still different from the Japanese cultivars.When K=2,the population structure result presented that 161 broccoli cultivars could be divided into 1 simple group(2 groups)and 1 mixed group.When Q≥0.6,143(88.82%)broccoli cultivars belonged to the simple groups.In simple groups 68(42.24%)broccoli cultivars of group 1 were derived from Japan,the United States,Switzerland,the Netherlands,China-Taiwan,and China-Mainland;75(46.58%)broccoli cultivars belonged to group 2;when Q<0.6,18(11.18%)broccoli cultivars belonged to the mixed groups.This study is helpful to understand the diversity and resolution of broccoli cultivars from worldwide,which is beneficial to plant breeding and materials innovation.And meanwhile,this result is also used for construction of broccoli fingerprint serving for cultivar identification.
基金supported by the National Natural Science Foundation of China(31461143024)the National Major Project for Developing New Genetically Modified(GM) Crops of China(2016ZX08010005)the Agricultural Science and Technology Innovation Program,China(ASTIP)
文摘Fructans are major nonstructural carbohydrates in wheat （Triticum aestivum L.）. Fructan 1-fructosyltransferase （1-FFT） is the key enzyme in fructan biosynthesis. In the present study, 96 sequence variants were detected in the 1-FFT-A 1 gene among 26 wheat accessions including UR208, and 15 of them result in amino acid substitutions, forming four haplotypes. Two markers M39 and M2164 were developed based on the InDe121-39 and SNP-2164 polymorphisms to distinguish the three haplotypes in the 1-FFT-AI. 1-FFT-A1 was located on chromosome 4A using marker M2164 and was flanked by markers Xcwm27 and 6-SFT-A 1. By association analysis using a natural wheat population consisted of 154 accessions, the results showed that the two markers were significantly associated with water-soluble carbohydrate （WSC） content in the lower internode stem and total stem at the early and middle grain filling stages, 1 000-grain weight （TGW） at different grain filling stages and peduncle length （PLE）. Comparison of the effects of three haplotypes on agronomic traits indicated that TGW, PLE and total number of spikelets per spike （TNSS）were significantly influenced by haplotypes. Haplll showed a significant positive effect on TGW, PLE and TNSS.
基金Project supported by the Natural Science Foundation of Gansu Province,China(Nos.3ZS061-A25-084 and 1208RJZA192)the Key Laboratory of Digestive System Tumors of Gansu Provincethe Fundamental Research Funds for the Central Universities(No.lzujbky-2011-t03-15),China
文摘A total of 64 patients with β-lactam allergy and 30 control subjects were enrolled in a case-control study. This study is aimed to analyze the relationship between β-lactam allergy and 10 single nucleotide polymorphisms（SNPs） in interleukin-10（IL-10）, IL-13, IL-4Rα, high-affinity immunoglobulin E-receptor β chain（FcεRIβ）, interferon γ receptor 2（IFNGR2）, and CYP3A4, and within the Han Chinese population of Northwest China. Genotyping for the SNPs was conducted using the Sequenom Mass ARRAY platform. SPSS 17.0 was employed to analyze the statistical data and SHEsis was used to perform the haplotype reconstruction and analyze linkage disequilibrium of SNPs of IL-10 and IL-13. The results showed that the genotype distribution of CYP3A4 rs2242480/CT differed significantly between case and control groups of males（P=0.022; odds ratio（OR）=0.167, 95% confidence interval（CI）： 0.032–0.867）. Further analysis showed that CCA, CCG, and TAA haplotypes of IL-10 had no significant correlation in patients with β-lactam allergy. The correlation between CCT and CAC haplotypes of IL-13 and β-lactam allergy needs to be further studied. The analysis did not reveal any differences in the distribution of others gene polymorphisms between cases and controls.
基金Supported by the Key Program of National Natural Science Foundation of China (No.30730071)the National High Technology R&D Program of China(863 Program)(No.2012AA10A404)the Agricultural Science and Technology Achievements Transformation Funds Project(No.2010GB24910700)
文摘Pacific white shrimp has become a major aquaculture and fishery species worldwide.Although a large scale EST resource has been publicly available since 2008,the data have not yet been widely used for SNP discovery or transcriptome-wide assessment of selective pressure.In this study,a set of 155 411 expressed sequence tags(ESTs) from the NCBI database were computationally analyzed and 17 225 single nucleotide polymorphisms(SNPs) were predicted,including 9 546 transitions,5 124 transversions and 2 481 indels.Among the 7 298 SNP substitutions located in functionally annotated contigs,58.4%(4 262) are non-synonymous SNPs capable of introducing amino acid mutations.Two hundred and fifty nonsynonymous SNPs in genes associated with economic traits have been identified as candidates for markers in selective breeding.Diversity estimates among the synonymous nucleotides were on average 3.49 times greater than those in non-synonymous,suggesting negative selection.Distribution of non-synonymous to synonymous substitutions(Ka/Ks) ratio ranges from 0 to 4.01,(average 0.42,median 0.26),suggesting that the majority of the affected genes are under purifying selection.Enrichment analysis identified multiple gene ontology categories under positive or negative selection.Categories involved in innate immune response and male gamete generation are rich in positively selected genes,which is similar to reports in Drosophila and primates.This work is the first transcriptome-wide assessment of selective pressure in a Penaeid shrimp species.The functionally annotated SNPs provide a valuable resource of potential molecular markers for selective breeding.
基金supported by the National High-Tech R&D Program of China (2011AA100501)the National Natural Science Foundation of China (31461143024)the Agricultural Science and Technology Innovation Program (ASTIP), Chinese Academy of Agricultural Sciences
文摘Lipid transfer protein （LTP） is a kind of small molecular protein, which is named for its ability to transfer lipid between cell membranes. It has been proved that the protein is involved in the responding to abiotic stresses. In this study, TaLTP-s, a genomic sequence of TaLTP was isolated from A genome of wheat （Triticum aestivum L）. Sequencing analysis exhibited that there was no diversity in the coding region of TaLTP-s, but seven single nucleotide polymorphisms （SNPs） and 1 bp insertion/deletion （InOel） were detected in the promoter regions of different wheat accessions. Nucleotide diversity （T1） in the region was 0.00033, and linkage disequilibrium （LD） extended over almost the entire TaLTP-s region in wheat. The dCAPS markers based on sequence variations in the promoter regions （SNP-207 and SNP-1696） were developed, and three haplotypes were identified based on those markers. Association analysis between the haplotypes and agronomic traits of natural population consisted of 262 accessions showed that three haplotypes of TaLTP-s were significantly associated with plant height （PH）. Among the three haplotypes, Haplll is considered as the superior haplotype for increasing plant height in the drought stress environments. The G variance at the position of 207 bp could be a superior allele that significantly increased number of spikes per plant （NSP）. The functional marker of TaLTP-s provide a tool for marker-assisted selection regarding to plant height and number of spikelet per plant in wheat.
基金This research is supported by the National Natural Science Foundation of China(60378043,30470494)the Natural Science Foundation of Guangdong Province(015012,04010394).
文摘Current methods for single nucleotide polymorphism （SNP） analysis are timeconsuming and complicated. We aimed at development of one-step real-time fluorescence mutant-allele-specific amplification （MASA） method for rapid SNP analysis. The method is a marriage of two technologies： MASA primers for target DNA and a double-stranded DNA-selective fluorescent dye, SYBR Green I. Genotypes are separated according to the different threshold cycles of the wild-type and mutant primers. K-ras oncogene was used as a target to validate the feasibility of the method. The experimental results showed that the different genotypes can be clearly discriminated by the assay. The real-time fluorescence MASA method will have an enormous potential for fast and reliable SNP analysis due to its simplicity and low cost.
文摘Stemphylium leaf spot, caused by Stemphylium botryosum f. sp. spinacia, is an important fungal disease of spinach (Spinacia oleracea L.). The aim of this study was to conduct association analysis to identify single nucleotide polymorphism (SNP) markers associated with Stemphylium leaf spot resistance in spinach. A total of 273 spinach genotypes, including 265 accessions from the USDA spinach germplasm collection and eight commercial cultivars, were used in this study. Phenotyping for Stemphylium leaf spot resistance was evaluated in greenhouse;genotyping was conducted using genotyping by sequencing (GBS) with 787 SNPs;and single marker regression, general linear model, and mixed linear model were used for association analysis of Stemphylium leaf spot. Spinach genotypes showed a skewed distribution for Stemphylium leaf spot resistance, with a range from 0.2% to 23.5% disease severity, suggesting that Stemphylium leaf spot resistance in spinach is a complex, quantitative trait. Association analysis indicated that eight SNP markers, AYZV02052595_115, AYZV02052595_122, AYZV02057770_10404, AYZV02129827_205, AYZV0-2152692_182, AYZV02180153_337, AYZV02225889_197, and AYZV02258563_213 were strongly associated with Stemphylium leaf spot resistance, with a Log of the Odds (LOD) of 2.5 or above. The SNP markers may provide a tool to select for Stemphylium leaf spot resistance in spinach breeding programs through marker-assisted selection (MAS).
文摘Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseases. We aim at identifying Single Nucleotide Polymorphism (SNP) difference of hURAT1 (rs7932775) and ABCG2 (rs3825016) on CKD patient with hyperuricemia and/or gout. Methods: All forty-two CKD patients were divided into two groups: hyperuricemia, and control group. 24 hours urine sample and serum were prepared for testing biochemistry parameters. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method is used to analyze hURAT1 and ABCG2 single nucleotide polymorphisms in different groups. Results: 17 patients have CT SNP of hURAT1 (rs7932775) and 13 patients have CT SNP of ABCG2 (rs3825016) in hyperuricemia group, while only 5 persons and 6 persons have the same mutations in control group respectively. 7 patients have CT SNP of both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group, while only 2 persons have the same mutations in control group. CT mutation rates of hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 60.7% (17/28) and 50% (13/28) respectively, higher than that of control group (35.7% (5/14) and 42.8% (6/14)). What is more, Double SNP mutations in both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 25% (7/28), higher than that of control group (14.2%, 2/14). Conclusion: There are higher mutation rates of CT SNP in hURAT1 (rs7932775) and/or ABCG2 (rs3825016) in hyperuricemia group. We can conclude that hyperuricemia is a high risk factor in progress of CKD, which is necessary to take measures of decreasing serum uric acid to delay CKD progress.
文摘OBJECTIVE： To investigate the association of E-selectin $128R polymorphisms with ischemic stroke. DATA SOURCES： A computer-based online search was conducted in PubMed, Elsevier, Ovid Database, the China National Knowledge Infrastructure, and Wanfang Database between January 1998 and December 2010. STUDY SELECTION： Case-controlled studies addressing the association of the E-selectin polymorphism and ischemic stroke were included in this review. The genotype distribution complied with the Hardy-Weinberg genetic equilibrium. The included reports were evaluated by two authors for strict quality screening. Meta-analysis software, REVMAN 5.1, was used to investigate heterogeneity, pooled odds ratio （OR） and 95% confidence interval （CO in individual studies. MAIN OUTCOME MEASURES： Genotype and allele distributions at the E-selectin $128R site. RESULTS： Six case-controlled studies were included after screening and application of inclusion and exclusion criteria. There was no heterogeneity in the genotype and allele frequencies, and no publication bias was found. Meta-analysis of the pooled data showed that the OR value of the （AC＋CC）/AA genotype was 1.93 （95% CI： 1.55 2.41, Z= 5.80, P 〈 0.000 01）, and the ORfor the C/A allele was 1.80 （95% CI： 1.47 2.22, Z= 5.59, P 〈 0.000 01） in the ischemic stroke group, compared with control group. Results of pooled data in Chinese subjects showed that the ORvalue of （AC＋CC）/AA was 2.36 （95% CI： 1.68 3.31, Z = 4.99, P 〈 0.000 01）, and the OR value of the C/A allele was 2.25 （95% CI： 1.63 3.12, Z= 4.89, P 〈 0.000 01）. CONCLUSION： Polymorphism of E-selectin S128R was significantly associated with susceptibility to ischemic stroke; the AC and CC genotypes as well as the C allele may be factors associated with susceptibility to ischemic stroke.
