While it is widely accepted that genetic diversity determines the potential of adaptation,the role that gene expression variation plays in adaptation remains poorly known.Here we show that gene expression diversity co...While it is widely accepted that genetic diversity determines the potential of adaptation,the role that gene expression variation plays in adaptation remains poorly known.Here we show that gene expression diversity could have played a positive role in the adaptation of Miscanthus lutarioriparius.RNA-seq was conducted for 80 individuals of the species,with half planted in the energy crop domestication site and the other half planted in the control site near native habitats.A leaf reference transcriptome consisting of 18,503 high-quality transcripts was obtained using a pipeline developed for de novo assembling with population RNA-seq data.The population structure and genetic diversity of M.lutarioriparius were estimated based on 30,609 genic single nucleotide polymorphisms.Population expression（Ep） and expression diversity（Ed）were defined to measure the average level and the magnitude of variation of a gene expression in the population,respectively.It was found that expression diversity increased while genetic Resediversity decreased after the species was transplanted from the native habitats to the harsh domestication site,especially for genes involved in abiotic stress resistance,histone methylation,and biomass synthesis under water limitation.The increased expression diversity could have enriched phenotypic variation directly subject to selections in the new environment.展开更多
Rare and undiagnosed diseases tend to be diverse,misdiagnosed,and difficult to diagnose.In some cases,the disease is progressive and life-threatening.Yet,to date,an estimated 95%of rare diseases have no approved thera...Rare and undiagnosed diseases tend to be diverse,misdiagnosed,and difficult to diagnose.In some cases,the disease is progressive and life-threatening.Yet,to date,an estimated 95%of rare diseases have no approved therapy.Therefore,rare and undiagnosed diseases are considered the ultimate challenges for understanding human diseases.Here,we review the research progress,research frontiers,and important scientific issues related to rare and undiagnosed diseases.We mainly focus on five topics:(1)the identification and functional analysis of disease-causing genes;(2)the construction of cells,organoids,and animal models for mechanism validation;(3)subtyping and diagnosis;(4)treatment and drug screening based on causative genes and mutations;and(5)new technologies and methods for studying rare and undiagnosed diseases.In this review,we briefly update and discuss the pathogenic mechanisms and precision medicine for rare and undiagnosed diseases.展开更多
基金supported by grants from the Key Program of the National Natural Science Foundation of China (No.91131902)the Knowledge Innovation Program of the Chinese Academy of Sciences (KSCX2-EX-QR-1)
文摘While it is widely accepted that genetic diversity determines the potential of adaptation,the role that gene expression variation plays in adaptation remains poorly known.Here we show that gene expression diversity could have played a positive role in the adaptation of Miscanthus lutarioriparius.RNA-seq was conducted for 80 individuals of the species,with half planted in the energy crop domestication site and the other half planted in the control site near native habitats.A leaf reference transcriptome consisting of 18,503 high-quality transcripts was obtained using a pipeline developed for de novo assembling with population RNA-seq data.The population structure and genetic diversity of M.lutarioriparius were estimated based on 30,609 genic single nucleotide polymorphisms.Population expression（Ep） and expression diversity（Ed）were defined to measure the average level and the magnitude of variation of a gene expression in the population,respectively.It was found that expression diversity increased while genetic Resediversity decreased after the species was transplanted from the native habitats to the harsh domestication site,especially for genes involved in abiotic stress resistance,histone methylation,and biomass synthesis under water limitation.The increased expression diversity could have enriched phenotypic variation directly subject to selections in the new environment.
文摘Rare and undiagnosed diseases tend to be diverse,misdiagnosed,and difficult to diagnose.In some cases,the disease is progressive and life-threatening.Yet,to date,an estimated 95%of rare diseases have no approved therapy.Therefore,rare and undiagnosed diseases are considered the ultimate challenges for understanding human diseases.Here,we review the research progress,research frontiers,and important scientific issues related to rare and undiagnosed diseases.We mainly focus on five topics:(1)the identification and functional analysis of disease-causing genes;(2)the construction of cells,organoids,and animal models for mechanism validation;(3)subtyping and diagnosis;(4)treatment and drug screening based on causative genes and mutations;and(5)new technologies and methods for studying rare and undiagnosed diseases.In this review,we briefly update and discuss the pathogenic mechanisms and precision medicine for rare and undiagnosed diseases.
