Genetic expression for an endosperm trait in seeds of cereal crops may be controlled simultaneously by the triploid endosperm genotypes and the diploid maternal genotypes. However, current statistical methods for mapp...Genetic expression for an endosperm trait in seeds of cereal crops may be controlled simultaneously by the triploid endosperm genotypes and the diploid maternal genotypes. However, current statistical methods for mapping quantitative trait loci (QTLs) underlying endosperm traits have not been effective in dealing with the putative maternal genetic effects. Combining the quantitative genetic model for diploid maternal traits with triploid endosperm traits, here we propose a new statistical method for mapping QTLs con- trolling endosperm traits with maternal genetic effects. This method applies the data set of both DNA molecular marker genotypes of each plant in segregation population and the quantitative observations of single endosperms in each plant to map QTL. The maximum likelihood method implemented via the expectation-maximization algorithm was used to the estimate parameters of a putative QTL. Since this method involves the maternal effect that may contribute to en- dosperm traits, it might be more congruent with the genetics of endosperm traits and more helpful to increasing the preci- sion of QTL mapping. The simulation results show the pro- posed method provides accurate estimates of the QTL effects and locations with high statistical power.展开更多
Epistasis between cytoplasmic and nuclear genes is the primary genetic component of complex quantitative traits.Genetic dissection of cytonuclear epistasis is fundamentally important to understand the genetic architec...Epistasis between cytoplasmic and nuclear genes is the primary genetic component of complex quantitative traits.Genetic dissection of cytonuclear epistasis is fundamentally important to understand the genetic architecture of complex traits.In this study,a two-dimensional genome scan strategy was employed to evaluate the contribution of cytoplasm,quantitative trait loci (QTL),QTL×QTL interactions and QTL×QTL×cytoplasm interactions to the phenotypic variation.The p-value and parameter value for each genetic effect were calculated by multiple regression analysis.A stepwise approach was suggested to build confidence in candidate QTL on the basis of q-value estimation,false discovery rate calculation and Bonferroni adjustment.A fine-scale grid scan strategy was proposed for further analysis of peaks of interest.Plant height in maize was used as an example to illustrate the efficiency of the two-dimensional genome scan strategy.展开更多
Grain shape and size are two key factors that determine rice yield and quality. In the present study, a rice triangular hull mutant (tri1) was obtained from the progeny of japonica rice variety Taipei 309 treated with...Grain shape and size are two key factors that determine rice yield and quality. In the present study, a rice triangular hull mutant (tri1) was obtained from the progeny of japonica rice variety Taipei 309 treated with 60Co γ-rays. Compared to the wild type, the tri1 mutant presents a triangular hull, and exhibits an increase in grain thickness and protein content, but with a slight decrease in plant height and grain weight. Genetic analysis indicated that the mutant phenotype was controlled by a recessive nuclear gene which is stably inherited. Using a map-based cloning strategy, we fine-mapped tri1 to a 47-kb region between the molecular markers CHR0122 and CHR0127 on the long arm of chromosome 1, and showed that it co-segregates with the molecular marker CHR0119. According to the rice genome sequence annotation there are six predicated genes within the mapped region. Sequencing analysis of the mutant and the wild type indicated that there was a deletion of an A nucleotide in exon 3 of the OsMADS32 gene, which could result in a downstream frameshift mutation and premature termination of the predicted polypeptide. Both semi-quantitative and real-time RT-PCR analyses showed that this gene expressed highly in young inflorescences, while expressed at very low levels in other tissues. These results implied that the OsMADS32 gene could be a candidate of TRI1. Taken together, the results of this study lay the foundation for further investigation into the molecular mechanisms regulating rice caryopsis development.展开更多
Chromosome segment substitution lines have been created in several experimental models,including many plant and animal species,and are useful tools for the genetic analysis and mapping of complex traits.The traditiona...Chromosome segment substitution lines have been created in several experimental models,including many plant and animal species,and are useful tools for the genetic analysis and mapping of complex traits.The traditional t-test is usually applied to identify a quantitative trait locus (QTL) that is contained within a chromosome segment to estimate the QTL's effect.However,current methods cannot uncover the entire genetic structure of complex traits.For example,current methods cannot distinguish between main effects and epistatic effects.In this paper,a linear epistatic model was constructed to dissect complex traits.First,all the long substituted segments were divided into overlapping small bins,and each small bin was considered a unique independent variable.The genetic model for complex traits was then constructed.When considering all the possible main effects and epistatic effects,the dimensions of the linear model can become extremely high.Therefore,variable selection via stepwise regression (Bin-REG) was proposed for the epistatic QTL analysis in the present study.Furthermore,we tested the feasibility of using the LASSO (least absolute shrinkage and selection operator) algorithm to estimate epistatic effects,examined the fully Bayesian SSVS (stochastic search variable selection) approach,tested the empirical Bayes (E-BAYES) method,and evaluated the penalized likelihood (PENAL) method for mapping epistatic QTLs.Simulation studies suggested that all of the above methods,excluding the LASSO and PENAL approaches,performed satisfactorily.The Bin-REG method appears to outperform all other methods in terms of estimating positions and effects.展开更多
基金supported by the National Natural Science Foundation of China(Grant Nos.39900080,30270724&30370758).
文摘Genetic expression for an endosperm trait in seeds of cereal crops may be controlled simultaneously by the triploid endosperm genotypes and the diploid maternal genotypes. However, current statistical methods for mapping quantitative trait loci (QTLs) underlying endosperm traits have not been effective in dealing with the putative maternal genetic effects. Combining the quantitative genetic model for diploid maternal traits with triploid endosperm traits, here we propose a new statistical method for mapping QTLs con- trolling endosperm traits with maternal genetic effects. This method applies the data set of both DNA molecular marker genotypes of each plant in segregation population and the quantitative observations of single endosperms in each plant to map QTL. The maximum likelihood method implemented via the expectation-maximization algorithm was used to the estimate parameters of a putative QTL. Since this method involves the maternal effect that may contribute to en- dosperm traits, it might be more congruent with the genetics of endosperm traits and more helpful to increasing the preci- sion of QTL mapping. The simulation results show the pro- posed method provides accurate estimates of the QTL effects and locations with high statistical power.
基金supported by the National Basic Research Program of China(2011CB100106)the National Natural Science Foundation of China(30971846and31171187)+1 种基金the Vital Project of Natural Science of Universities in Jiangsu Province(09KJA210002) to C.Xufrom the National Natural Science Foundation of China(31100882) to Z.Tang
文摘Epistasis between cytoplasmic and nuclear genes is the primary genetic component of complex quantitative traits.Genetic dissection of cytonuclear epistasis is fundamentally important to understand the genetic architecture of complex traits.In this study,a two-dimensional genome scan strategy was employed to evaluate the contribution of cytoplasm,quantitative trait loci (QTL),QTL×QTL interactions and QTL×QTL×cytoplasm interactions to the phenotypic variation.The p-value and parameter value for each genetic effect were calculated by multiple regression analysis.A stepwise approach was suggested to build confidence in candidate QTL on the basis of q-value estimation,false discovery rate calculation and Bonferroni adjustment.A fine-scale grid scan strategy was proposed for further analysis of peaks of interest.Plant height in maize was used as an example to illustrate the efficiency of the two-dimensional genome scan strategy.
基金supported by the National Key Basic Research and Development Project (2012CB944803)the National Natural Science Foundation of China (31071383)+1 种基金the Funds for Distinguished Young Scientists of Jiangsu Province (BK2012010)Priority Academic Program Development from Jiangsu Government, China
文摘Grain shape and size are two key factors that determine rice yield and quality. In the present study, a rice triangular hull mutant (tri1) was obtained from the progeny of japonica rice variety Taipei 309 treated with 60Co γ-rays. Compared to the wild type, the tri1 mutant presents a triangular hull, and exhibits an increase in grain thickness and protein content, but with a slight decrease in plant height and grain weight. Genetic analysis indicated that the mutant phenotype was controlled by a recessive nuclear gene which is stably inherited. Using a map-based cloning strategy, we fine-mapped tri1 to a 47-kb region between the molecular markers CHR0122 and CHR0127 on the long arm of chromosome 1, and showed that it co-segregates with the molecular marker CHR0119. According to the rice genome sequence annotation there are six predicated genes within the mapped region. Sequencing analysis of the mutant and the wild type indicated that there was a deletion of an A nucleotide in exon 3 of the OsMADS32 gene, which could result in a downstream frameshift mutation and premature termination of the predicted polypeptide. Both semi-quantitative and real-time RT-PCR analyses showed that this gene expressed highly in young inflorescences, while expressed at very low levels in other tissues. These results implied that the OsMADS32 gene could be a candidate of TRI1. Taken together, the results of this study lay the foundation for further investigation into the molecular mechanisms regulating rice caryopsis development.
基金supported by the National Basic Research Program of China(2011CB100106)the National Natural Science Foundation of China(30971846and31171187)+2 种基金the Vital Project of Natural Science of Universities in Jiangsu Province(09KJA210002) to C.Xuthe National Natural Science Foundation of China(31100882) to Z.TangNational Natural Science Foundation of China(31000539) to J.Xiao
文摘Chromosome segment substitution lines have been created in several experimental models,including many plant and animal species,and are useful tools for the genetic analysis and mapping of complex traits.The traditional t-test is usually applied to identify a quantitative trait locus (QTL) that is contained within a chromosome segment to estimate the QTL's effect.However,current methods cannot uncover the entire genetic structure of complex traits.For example,current methods cannot distinguish between main effects and epistatic effects.In this paper,a linear epistatic model was constructed to dissect complex traits.First,all the long substituted segments were divided into overlapping small bins,and each small bin was considered a unique independent variable.The genetic model for complex traits was then constructed.When considering all the possible main effects and epistatic effects,the dimensions of the linear model can become extremely high.Therefore,variable selection via stepwise regression (Bin-REG) was proposed for the epistatic QTL analysis in the present study.Furthermore,we tested the feasibility of using the LASSO (least absolute shrinkage and selection operator) algorithm to estimate epistatic effects,examined the fully Bayesian SSVS (stochastic search variable selection) approach,tested the empirical Bayes (E-BAYES) method,and evaluated the penalized likelihood (PENAL) method for mapping epistatic QTLs.Simulation studies suggested that all of the above methods,excluding the LASSO and PENAL approaches,performed satisfactorily.The Bin-REG method appears to outperform all other methods in terms of estimating positions and effects.