Ulva prolifera is the causative species of the annually occurring large-scale green tides in China since 2007.Its specific biological features on reproductivity strategies,as well as intra-species genetic diversity,ar...Ulva prolifera is the causative species of the annually occurring large-scale green tides in China since 2007.Its specific biological features on reproductivity strategies,as well as intra-species genetic diversity,are still largely unknown,especially at the genome level,despite their importance in understanding the formation and outbreak of massive green tides.In the present study,the restriction site-associated DNA genotyping approach(2b-RAD)was adopted to identify the genome-wide single-nucleotide polymorphisms(SNPs)of 54 individual thalli including samples collected from Subei Shoal in 2019 and Qingdao coast from 2019 to 2021.SNPs genotype results revealed that most of the thalli in 2019 and 2020 were haploid gametophytes,while only half of the thalli were gametophytes in 2021,indicating flexibility in the reproductive strategies for the formation of the green tides among different years and the dominance of asexual and vegetative reproductive mode for the floating period.Besides,population analysis was conducted,and it revealed a very low genetic diversity among samples from Subei Shoal and the Qingdao coast in the same year and a higher divergence among samples in different years.The results showed the efficiency of 2b-RAD in the exploration of SNPs in U.prolifera and provided the first genome-wide scale evidence for the origin of the large-scale green tides on the Qingdao coast.This study improved our understanding of the reproductive strategy and genetic diversity of the green tide causative species and will help further reveal the biological causes of the green tide in China.展开更多
Background and aim:A genome-wide association study has indicated the association of numerous genes in the 6p21.3 region with chronic hepatitis B virus(HBV)infection.In this study,we screened 12 representative single-n...Background and aim:A genome-wide association study has indicated the association of numerous genes in the 6p21.3 region with chronic hepatitis B virus(HBV)infection.In this study,we screened 12 representative single-nucleotide polymorphisms(SNPs)from the 6p21.3 region and investigated their association with the risk of chronic hepatitis B(CHB)to better understand the molecular etiology un-derlying CHB risk in the Han Chinese population.Methods:Between March 2021 and November 2022,we included 183 patients with CHB(case group)and 196 with natural HBV clearance(control group).Allele typing of the selected SNPs was performed using snapshot technology.The correlation between the 12 chosen SNPs and the risk of chronic HBV infection was examined using binary logistic regression analysis.Interacting genes of the variants were identified,and expression quantitative trait loci(eQTL)were analyzed using the 3DSNP database.Results:We validated 12 previously reported CHB susceptibility sites,including rs1419881 of tran-scription factor 19(TCF19),rs3130542 and rs2853953 of human leukocyte antigen(HLA)-C,rs652888 of euchromatic histone-lysine-methyltransferase 2(EHMT2),rs2856718,rs9276370,rs7756516,and rs7453920 of HLA-DQ,rs378352 of HLA-DOA,and rs3077,rs9277535,and rs9366816 of HLA-DP.Logistic regression analyses revealed that polymorphisms such as rs9276370,rs7756516,rs7453920,rs3077,rs9277535,and rs9366816 were positively correlated with natural HBV clearance in the dominant model.Conversely,rs3130542 and rs378352 were identified as risk factors for CHB.Haplotype analysis revealed that rs9276370,rs7756516,and rs7453920 in HLA-DQ were TTG and GCA haplotypes.Although the TTG haplotype was positively correlated with a higher risk of CHB,the GCA haplotype significantly influenced the natural clearance of HBV.Bioinformatics analysis demonstrated that rs378352,rs3077,and rs9366816 were located within enhancer states;rs3077 and rs9366816 overlapped with nine tran-scription factor-binding sites,whereas rs378352 altered five sequence 展开更多
Background:Chronic diseases are becoming a critical challenge to the aging Chinese population.Biobanks with extensive genomic and environmental data offer opportunities to elucidate the complex gene-environment intera...Background:Chronic diseases are becoming a critical challenge to the aging Chinese population.Biobanks with extensive genomic and environmental data offer opportunities to elucidate the complex gene-environment interactions underlying their aetiology.Genome-wide genotyping array remains an efficient approach for large-scale genomic data collection.However,most commercial arrays have reduced performance for biobanking in the Chinese population.Materials and methods:Deep whole-genome sequencing data from 2641 Chinese individuals were used as a reference to develop the CAS array,a custom-designed genotyping array for precision medicine.Evaluation of the array was performed by comparing data from 384 individuals assayed both by the array and whole-genome sequencing.Validation of its mitochondrial copy number estimating capacity was conducted by examining its association with established covariates among 10162 Chinese elderly.Results:The CAS Array adopts the proven Axiom technology and is restricted to 652429 single-nucleotide polymorphism(SNP)markers.Its call rate of 99.79% and concordance rate of 99.89% are both higher than for commercial arrays.Its imputation-based genome coverage reached 98.3% for common SNPs and 63.0% for low-frequency SNPs,both comparable to commercial arrays with larger SNP capacity.After validating its mitochondrial copy number estimates,we developed a publicly available software tool to facilitate the array utility.Conclusion:Based on recent advances in genomic science,we designed and implemented a high-throughput and low-cost genotyping array.It is more cost-effective than commercial arrays for large-scale Chinese biobanking.展开更多
To overcome the obstacle of the fascinating relation in predicting animal phenotype value, we have developed a neural network model to detect the complex non-linear relationships between the genotypes and phenotypes a...To overcome the obstacle of the fascinating relation in predicting animal phenotype value, we have developed a neural network model to detect the complex non-linear relationships between the genotypes and phenotypes and the possible interactions that cannot be expressed with equations. In this paper, back-propagation neural network is used to discuss the influences of different allele frequencies on estimating the polygenic phenotype value. To ensure the precision of prediction, normalization was needed to train the prediction model. The results show that back-propagation artificial neural networks can be used to predict the phenotype value and perform very well in allele frequency from 0.2 to 0.8, when the allele frequency is very small （less than 0.2） or big （more than 0.8）; however, the prediction model was not reliable and the predicted value should be carefully tested.展开更多
根据已报道的禾本科Poaceae植物PPO基因的保守序列(CuA和CuB区)设计1对引物,分别从紫竹Phyl-lostachys nigra 9个不同栽培变型中克隆到PPO基因片段。序列分析显示:9个序列彼此间核苷酸水平上一致性达到92.35%,氨基酸水平上的一致性达到8...根据已报道的禾本科Poaceae植物PPO基因的保守序列(CuA和CuB区)设计1对引物,分别从紫竹Phyl-lostachys nigra 9个不同栽培变型中克隆到PPO基因片段。序列分析显示:9个序列彼此间核苷酸水平上一致性达到92.35%,氨基酸水平上的一致性达到81.83%。在某些栽培类型,一年紫和沟槽紫,该基因存在提前终止的现象。所获得的9条序列间存在明显的单核苷酸多态性(SNP)位点,多数位点引起非同义突变。根据所测得的序列对紫竹不同栽培类型的亲缘关系进行了遗传多样性分析。展开更多
The genus Chenopodium comprises about 150 species, of which Chenopodium quinoa and C. album are important for their nutritional value. Evaluation of variation in qualitative morphological traits of plants and SNPs in ...The genus Chenopodium comprises about 150 species, of which Chenopodium quinoa and C. album are important for their nutritional value. Evaluation of variation in qualitative morphological traits of plants and SNPs in chloroplast rbc L and mat K gene sequences in 19 accessions representing C. quinoa and C. album indicated that the accessions IC-411824 and IC-411825,which have white seeds, belong to C. quinoa rather than C. album. This observation was also supported by a time tree that indicated IC-411824 and IC-411825 to be a sister clade to accessions of C. quinoa with an estimated age of 1.2 Mya. Whereas multiple alignments of rbc L gene sequences from the 19 accessions revealed 1.26% parsimony-informative sites with 0.68%interspecific sequence diversity, alignment of nucleotide sequences of amplicons representing the mat K gene revealed 4.97% parsimony-informative sites and 2.81% interspecific sequence diversity. Validation of SNPs in the cp rbc L and mat K regions of 36 accessions belonging to C. quinoa and C. album was performed by allele-specific PCR with primers carrying a single base change at the 3′ end. We report the first C. quinoa-specific SNP-based primer, R1RQ-AFR,designed from rbc L sequences, that could differentiate quinoa from 64 genera including13 species of the genus Chenopodium. With an estimated age of 10.5–4.1 million years(Myr), the Himalayan chenopods are evolutionarily younger than the Andean chenopods. The results establish the paraphyletic origin of the genus Chenopodium.展开更多
Genetic variation developed in plant breeding programs is fundamental to creating new combinations that result in cultivars with enhanced characteristics. Over the years, tomato (Solanum lycopersicum) breeding program...Genetic variation developed in plant breeding programs is fundamental to creating new combinations that result in cultivars with enhanced characteristics. Over the years, tomato (Solanum lycopersicum) breeding programs associated with the Texas A&M University system have developed morphologically diverse lines of tomatoes selected for heat tolerance, fruit quality, and disease resistance to adapt them to Texas growing conditions. Here we explored the intraspecific genetic variations of 322 cultivated tomato genotypes, including 300 breeding lines developed by three Texas A&M breeding programs, as an initial step toward implementing molecular breeding approaches. Genotyping by sequencing using low coverage whole-genome sequencing (SkimGBS) identified 10,236 high-quality single-nucleotide polymorphisms (SNPs) that were used to assess genetic diversity, population structure, and phylogenetic relationship between genotypes and breeding programs. Model-based population structure analysis, phylogenetic tree construction, and principal component analysis indicated that the genotypes were grouped into two main clusters. Genetic distance analysis revealed greater genetic diversity? among the products of the three breeding programs. The germplasm developed at Texas A&M programs at Weslaco, College Station, and by Dr. Paul Leeper exhibited genetic diversity ranges of 0.175 - 0.434, 0.099 - 0.392, and 0.183 - 0.347, respectively, suggesting that there is enough variation within and between the lines from the three programs to perform selection for cultivar development. The SNPs identified here could be used to develop molecular tools for selecting various traits of interest and to select parents for future tomato breeding.展开更多
We identified the FOXO gene and five single-nucleotide polymorphisms(SNPs)in its coding region in the Sanmen breeding population of the razor clam Sinonovacula constricta.The ScFOXO gene encodes a protein of 625 amino...We identified the FOXO gene and five single-nucleotide polymorphisms(SNPs)in its coding region in the Sanmen breeding population of the razor clam Sinonovacula constricta.The ScFOXO gene encodes a protein of 625 amino acids in length that contains a conserved DNA-binding domain.Real-time polymerase chain reaction analysis showed that ScFOXO mRNA is widely expressed in adult tissues,with higher expression in the siphons and gills.Of the SNPs,c.879G>C(Val293Val)and c.1725A>G(Ser575Ser)are synonymous mutations,and c.543C>T(Phe181Leu),c.848A>G(Tyr283Cys),and c.1625G>C(Gly542Phe)are non-synonymous mutations.The SNPs all show significant associations with total body weight,shell length,shell width,and shell height(SH)in this population.Polymorphic parameter analysis showed that all SNPs except c.848A>G(Tyr283Cys)exhibit complete linkage.The SNP c.1625G>C(Gly542Phe)was used for genetic linkage mapping and demonstrates the strongest linkage(logarithm of the odds[LOD]value:41.46)with the marker 96616(37.02 cM)in the linkage group 9.The LOD value of this marker in relation to growth traits ranges from 1.04 to 1.53;only markers with a LOD value3 were considered to be linked with growth traits in the razor clam linkage map.In summary,ScFOXO may be a growth trait-related gene and may represent a marker for Sanmen breeding group selection.展开更多
基金Supported by the Laoshan Laboratory (No.LSKJ202204005)the Mount Tai Scholar Climbing Plan to Song SUNthe Open Fund of CAS Key Laboratory of Marine Ecology and Environmental Sciences,Institute of Oceanology,Chinese Academy of Sciences (No.KLMEES201801)
文摘Ulva prolifera is the causative species of the annually occurring large-scale green tides in China since 2007.Its specific biological features on reproductivity strategies,as well as intra-species genetic diversity,are still largely unknown,especially at the genome level,despite their importance in understanding the formation and outbreak of massive green tides.In the present study,the restriction site-associated DNA genotyping approach(2b-RAD)was adopted to identify the genome-wide single-nucleotide polymorphisms(SNPs)of 54 individual thalli including samples collected from Subei Shoal in 2019 and Qingdao coast from 2019 to 2021.SNPs genotype results revealed that most of the thalli in 2019 and 2020 were haploid gametophytes,while only half of the thalli were gametophytes in 2021,indicating flexibility in the reproductive strategies for the formation of the green tides among different years and the dominance of asexual and vegetative reproductive mode for the floating period.Besides,population analysis was conducted,and it revealed a very low genetic diversity among samples from Subei Shoal and the Qingdao coast in the same year and a higher divergence among samples in different years.The results showed the efficiency of 2b-RAD in the exploration of SNPs in U.prolifera and provided the first genome-wide scale evidence for the origin of the large-scale green tides on the Qingdao coast.This study improved our understanding of the reproductive strategy and genetic diversity of the green tide causative species and will help further reveal the biological causes of the green tide in China.
基金funded by The Ningde Science and Technology Plan Project of China(Grant No.20170013).
文摘Background and aim:A genome-wide association study has indicated the association of numerous genes in the 6p21.3 region with chronic hepatitis B virus(HBV)infection.In this study,we screened 12 representative single-nucleotide polymorphisms(SNPs)from the 6p21.3 region and investigated their association with the risk of chronic hepatitis B(CHB)to better understand the molecular etiology un-derlying CHB risk in the Han Chinese population.Methods:Between March 2021 and November 2022,we included 183 patients with CHB(case group)and 196 with natural HBV clearance(control group).Allele typing of the selected SNPs was performed using snapshot technology.The correlation between the 12 chosen SNPs and the risk of chronic HBV infection was examined using binary logistic regression analysis.Interacting genes of the variants were identified,and expression quantitative trait loci(eQTL)were analyzed using the 3DSNP database.Results:We validated 12 previously reported CHB susceptibility sites,including rs1419881 of tran-scription factor 19(TCF19),rs3130542 and rs2853953 of human leukocyte antigen(HLA)-C,rs652888 of euchromatic histone-lysine-methyltransferase 2(EHMT2),rs2856718,rs9276370,rs7756516,and rs7453920 of HLA-DQ,rs378352 of HLA-DOA,and rs3077,rs9277535,and rs9366816 of HLA-DP.Logistic regression analyses revealed that polymorphisms such as rs9276370,rs7756516,rs7453920,rs3077,rs9277535,and rs9366816 were positively correlated with natural HBV clearance in the dominant model.Conversely,rs3130542 and rs378352 were identified as risk factors for CHB.Haplotype analysis revealed that rs9276370,rs7756516,and rs7453920 in HLA-DQ were TTG and GCA haplotypes.Although the TTG haplotype was positively correlated with a higher risk of CHB,the GCA haplotype significantly influenced the natural clearance of HBV.Bioinformatics analysis demonstrated that rs378352,rs3077,and rs9366816 were located within enhancer states;rs3077 and rs9366816 overlapped with nine tran-scription factor-binding sites,whereas rs378352 altered five sequence
基金supported by the National Key R&D Program of China(Grant No.2018YFC2001003)the Strategic Priority Research Program of the Chinese Academy of Sciences(category B,Grant No.XDB38020100).
文摘Background:Chronic diseases are becoming a critical challenge to the aging Chinese population.Biobanks with extensive genomic and environmental data offer opportunities to elucidate the complex gene-environment interactions underlying their aetiology.Genome-wide genotyping array remains an efficient approach for large-scale genomic data collection.However,most commercial arrays have reduced performance for biobanking in the Chinese population.Materials and methods:Deep whole-genome sequencing data from 2641 Chinese individuals were used as a reference to develop the CAS array,a custom-designed genotyping array for precision medicine.Evaluation of the array was performed by comparing data from 384 individuals assayed both by the array and whole-genome sequencing.Validation of its mitochondrial copy number estimating capacity was conducted by examining its association with established covariates among 10162 Chinese elderly.Results:The CAS Array adopts the proven Axiom technology and is restricted to 652429 single-nucleotide polymorphism(SNP)markers.Its call rate of 99.79% and concordance rate of 99.89% are both higher than for commercial arrays.Its imputation-based genome coverage reached 98.3% for common SNPs and 63.0% for low-frequency SNPs,both comparable to commercial arrays with larger SNP capacity.After validating its mitochondrial copy number estimates,we developed a publicly available software tool to facilitate the array utility.Conclusion:Based on recent advances in genomic science,we designed and implemented a high-throughput and low-cost genotyping array.It is more cost-effective than commercial arrays for large-scale Chinese biobanking.
文摘【目的】挖掘与华山松球果数量相关的基因。【方法】以华山松球果数量性状表型数据筛选华山松高、低球果数量单株,利用前期已开发的单核苷酸多态性(single-nucleotide polymorphism,SNP)标记结合表型数据进行全基因组关联分析(genome-wide association study,GWAS),构建华山松样品的系统发育树,发掘与华山松球果数量性状相关的SNP标记与候选基因,并进一步分析筛选出的基因在华山松针叶、木质部、韧皮部、树皮、幼嫩球果和树根的qPCR基因组织特异性表达。【结果】系统发育树显示:同一种源的单株基本处于相近的位置,而来自巍山的单株广泛分布于各个群体中,与主成分分析结果基本一致。全基因组关联分析共检测到12个与球果数量显著关联的SNP位点,其中,Marker193307的序列与纤维素合成相关基因Korrigan (KOR1,编码跨膜内切β-1,4-D葡聚糖酶)的序列相似度较高(74.74%)。qPCR基因组织特异性表达分析结果显示:该基因在华山松枝条韧皮部的表达量最高,幼嫩球果中次之,在根系的表达量最少,初步判断该基因与球果数量相关。【结论】华山松种源地相近的单株基本处于相近的位置。巍山种源的材料较其他种源拥有较为广泛的遗传变异。GWAS分析仅检索到1个与植物纤维素合成相关的基因(KOR1),该基因可能参与球果数量性状的表达。
基金Supported by the Scientific Research Starting Foundation for Doctors, Henan Institute of Science and Technology of China
文摘To overcome the obstacle of the fascinating relation in predicting animal phenotype value, we have developed a neural network model to detect the complex non-linear relationships between the genotypes and phenotypes and the possible interactions that cannot be expressed with equations. In this paper, back-propagation neural network is used to discuss the influences of different allele frequencies on estimating the polygenic phenotype value. To ensure the precision of prediction, normalization was needed to train the prediction model. The results show that back-propagation artificial neural networks can be used to predict the phenotype value and perform very well in allele frequency from 0.2 to 0.8, when the allele frequency is very small （less than 0.2） or big （more than 0.8）; however, the prediction model was not reliable and the predicted value should be carefully tested.
文摘根据已报道的禾本科Poaceae植物PPO基因的保守序列(CuA和CuB区)设计1对引物,分别从紫竹Phyl-lostachys nigra 9个不同栽培变型中克隆到PPO基因片段。序列分析显示:9个序列彼此间核苷酸水平上一致性达到92.35%,氨基酸水平上的一致性达到81.83%。在某些栽培类型,一年紫和沟槽紫,该基因存在提前终止的现象。所获得的9条序列间存在明显的单核苷酸多态性(SNP)位点,多数位点引起非同义突变。根据所测得的序列对紫竹不同栽培类型的亲缘关系进行了遗传多样性分析。
基金Financial support received from Department of Biotechnology,Government of India vide grant No.BT/PR-8953/BCE/08/533/2007project sanctioned against grant No.BT/04/NE/2009financial support from Department of Science&Technology,Government of India in the form of a research fellowship under the INSPIRE program
文摘The genus Chenopodium comprises about 150 species, of which Chenopodium quinoa and C. album are important for their nutritional value. Evaluation of variation in qualitative morphological traits of plants and SNPs in chloroplast rbc L and mat K gene sequences in 19 accessions representing C. quinoa and C. album indicated that the accessions IC-411824 and IC-411825,which have white seeds, belong to C. quinoa rather than C. album. This observation was also supported by a time tree that indicated IC-411824 and IC-411825 to be a sister clade to accessions of C. quinoa with an estimated age of 1.2 Mya. Whereas multiple alignments of rbc L gene sequences from the 19 accessions revealed 1.26% parsimony-informative sites with 0.68%interspecific sequence diversity, alignment of nucleotide sequences of amplicons representing the mat K gene revealed 4.97% parsimony-informative sites and 2.81% interspecific sequence diversity. Validation of SNPs in the cp rbc L and mat K regions of 36 accessions belonging to C. quinoa and C. album was performed by allele-specific PCR with primers carrying a single base change at the 3′ end. We report the first C. quinoa-specific SNP-based primer, R1RQ-AFR,designed from rbc L sequences, that could differentiate quinoa from 64 genera including13 species of the genus Chenopodium. With an estimated age of 10.5–4.1 million years(Myr), the Himalayan chenopods are evolutionarily younger than the Andean chenopods. The results establish the paraphyletic origin of the genus Chenopodium.
文摘Genetic variation developed in plant breeding programs is fundamental to creating new combinations that result in cultivars with enhanced characteristics. Over the years, tomato (Solanum lycopersicum) breeding programs associated with the Texas A&M University system have developed morphologically diverse lines of tomatoes selected for heat tolerance, fruit quality, and disease resistance to adapt them to Texas growing conditions. Here we explored the intraspecific genetic variations of 322 cultivated tomato genotypes, including 300 breeding lines developed by three Texas A&M breeding programs, as an initial step toward implementing molecular breeding approaches. Genotyping by sequencing using low coverage whole-genome sequencing (SkimGBS) identified 10,236 high-quality single-nucleotide polymorphisms (SNPs) that were used to assess genetic diversity, population structure, and phylogenetic relationship between genotypes and breeding programs. Model-based population structure analysis, phylogenetic tree construction, and principal component analysis indicated that the genotypes were grouped into two main clusters. Genetic distance analysis revealed greater genetic diversity? among the products of the three breeding programs. The germplasm developed at Texas A&M programs at Weslaco, College Station, and by Dr. Paul Leeper exhibited genetic diversity ranges of 0.175 - 0.434, 0.099 - 0.392, and 0.183 - 0.347, respectively, suggesting that there is enough variation within and between the lines from the three programs to perform selection for cultivar development. The SNPs identified here could be used to develop molecular tools for selecting various traits of interest and to select parents for future tomato breeding.
基金This work was supported by the National Natural Science Foundation of China[grant number 31472278]the National High Technology Research and Development Program of China(863 Program)[grant number 2012AA10A400-3]the Shanghai Universities Knowledge Service Platform[grant number ZF1206].
文摘We identified the FOXO gene and five single-nucleotide polymorphisms(SNPs)in its coding region in the Sanmen breeding population of the razor clam Sinonovacula constricta.The ScFOXO gene encodes a protein of 625 amino acids in length that contains a conserved DNA-binding domain.Real-time polymerase chain reaction analysis showed that ScFOXO mRNA is widely expressed in adult tissues,with higher expression in the siphons and gills.Of the SNPs,c.879G>C(Val293Val)and c.1725A>G(Ser575Ser)are synonymous mutations,and c.543C>T(Phe181Leu),c.848A>G(Tyr283Cys),and c.1625G>C(Gly542Phe)are non-synonymous mutations.The SNPs all show significant associations with total body weight,shell length,shell width,and shell height(SH)in this population.Polymorphic parameter analysis showed that all SNPs except c.848A>G(Tyr283Cys)exhibit complete linkage.The SNP c.1625G>C(Gly542Phe)was used for genetic linkage mapping and demonstrates the strongest linkage(logarithm of the odds[LOD]value:41.46)with the marker 96616(37.02 cM)in the linkage group 9.The LOD value of this marker in relation to growth traits ranges from 1.04 to 1.53;only markers with a LOD value3 were considered to be linked with growth traits in the razor clam linkage map.In summary,ScFOXO may be a growth trait-related gene and may represent a marker for Sanmen breeding group selection.
