目的:对两个非综合征型唇腭裂家系中筛查到的IFT172(intraflagellar transport 172)基因突变进行功能分析,进一步明确IFT172在唇腭裂中的致病机制。方法:对前期工作中鉴定的IFT172突变进行保守性分析和蛋白质结构预测。构建野生型和突...目的:对两个非综合征型唇腭裂家系中筛查到的IFT172(intraflagellar transport 172)基因突变进行功能分析,进一步明确IFT172在唇腭裂中的致病机制。方法:对前期工作中鉴定的IFT172突变进行保守性分析和蛋白质结构预测。构建野生型和突变体质粒,转染人胚胎腭板间充质细胞(human embryonic palatal mesenchyme, HEPM),进行转录组测序并对差异表达基因进行分析。结果:IFT172基因中的两个错义突变位点,c.4163A>G(p.Y1388C)和c.1507A>G(p.R503G),在物种间均高度保守,两个突变均导致蛋白质空间构象改变。转录组测序结果显示,差异表达基因富集于坏死性凋亡、调控细胞多能性等信号通路。结论:IFT172基因错义突变可能通过改变蛋白质构象,影响细胞凋亡和细胞多能性并参与唇腭裂的发生。展开更多
Maize(Zea mays L.)is a monoecious grass species with separate male and female inflorescences which form the tassel and ear,respectively.The mature ear inflorescences usually bear hundreds of grains,so they directly in...Maize(Zea mays L.)is a monoecious grass species with separate male and female inflorescences which form the tassel and ear,respectively.The mature ear inflorescences usually bear hundreds of grains,so they directly influence maize grain production and yield.Here,we isolated a recessive maize mutant,tasselseed2016(ts2016),which exhibits pleiotropic inflorescence defects and reduced grain yield.These defects include the loss of determinacy and identity in meristems and floral organs,as well as a lack of the lower floret abortion in maize ear,and a smaller grain size.Using map-based cloning and allelic testing,we identified and confirmed the microRNA gene MIR172e as the target gene controlling these related traits.Furthermore,our evidence uncovered a new potential miR172e/ETHYLENE RESPONSIVE ELEMENT BINDING197(EREB197)regulatory module which controls lower floret abortion in maize ear.Transcriptome analysis revealed that the mutation of MIR172e represses multiple biological processes,particularly the flower development and hormone-related pathways in maize ear.We also found that a mutation in the DNA sequence of MIR172e affects RNA transcription,resulting in elongation blockage at the mutant site.Our results reveal the function and molecular mechanism of MIR172e in maize inflorescences and grain yield,and this study deepens our knowledge of maize inflorescence development.展开更多
基金supported by the Natural Science Foundation of Henan Province,China(232300421260)the Tackling Key Problems in Science and Technology of Henan Province,China(222102110465,to LZ and 232102111097,to YS)the Open Project Program(SKL-KF202214)。
文摘Maize(Zea mays L.)is a monoecious grass species with separate male and female inflorescences which form the tassel and ear,respectively.The mature ear inflorescences usually bear hundreds of grains,so they directly influence maize grain production and yield.Here,we isolated a recessive maize mutant,tasselseed2016(ts2016),which exhibits pleiotropic inflorescence defects and reduced grain yield.These defects include the loss of determinacy and identity in meristems and floral organs,as well as a lack of the lower floret abortion in maize ear,and a smaller grain size.Using map-based cloning and allelic testing,we identified and confirmed the microRNA gene MIR172e as the target gene controlling these related traits.Furthermore,our evidence uncovered a new potential miR172e/ETHYLENE RESPONSIVE ELEMENT BINDING197(EREB197)regulatory module which controls lower floret abortion in maize ear.Transcriptome analysis revealed that the mutation of MIR172e represses multiple biological processes,particularly the flower development and hormone-related pathways in maize ear.We also found that a mutation in the DNA sequence of MIR172e affects RNA transcription,resulting in elongation blockage at the mutant site.Our results reveal the function and molecular mechanism of MIR172e in maize inflorescences and grain yield,and this study deepens our knowledge of maize inflorescence development.
