Structural variation is an important source of genetic variation in wheat and have been important in the evolution of the wheat's genome.Few studies have examined the relationship between structural variations and...Structural variation is an important source of genetic variation in wheat and have been important in the evolution of the wheat's genome.Few studies have examined the relationship between structural variations and agronomy and drought tolerance.The present study identified structural chromosome variations(SCVs)in a doubled haploid(DH)population and backcross introgression lines(BC5F3)derived from Jinmai 47 and Jinmai 84 using fluorescence in situ hybridization(FISH).There are one simple translocation,10 present/absent variations(PAVs),and one copy number variation(CNV)between Jinmai 47 and Jinmai 84,which distributed in 10 chromosomes.Eight SCVs were associated with 15 agronomic traits.A PAV recombination occurred on chromosome 2A,which was associated with grain number per spike(GNS).The 1BL/1RS translocation and PAV.2D were associated with significant reductions in plant height,deriving from the effects on LI2-LI4,LI2-LI4 and UI,respectively respectively.PAV.2D was also contributed to an increase of 3.13%for GNS,1BL/1RS significantly increased spikelet number,grain length(GL),and grain thickness(GT).The effect of PAV.4A.1 on GL,PAV.6A on spike length(SL)and thousand-grain weight(TGW),PAV.6B on SL,GT and TGW were identified and verified.PAVs on chromosomes 2A,6A,1D,2D,and a CNV on chromosome 4B were associated with the drought tolerance coefficients.Additive and interaction effects among SCVs were observed.Many previously cloned key genes and yield-related QTL were found in polymorphic regions of PAV.2B,PAV.2D,and CNV.4B.Altogether,this study confirmed the genetic effect of SCVs on agronomy and drought tolerance,and identification of these SCVs will facilitate genetic improvement of wheat through marker-assisted selection.展开更多
The genus Boechera(Brassicaceae)serves as a model system for studying apomictic reproduction and ecological adaptations,with most species occurring in North America.The rare occurrence of Boechera species outside thei...The genus Boechera(Brassicaceae)serves as a model system for studying apomictic reproduction and ecological adaptations,with most species occurring in North America.The rare occurrence of Boechera species outside their typical range provides unique opportunities to investigate genome evolution in extralimital environments.One such species,B.calcarea,has been described from the Chandalaz Mountains in northeastern Asia(Russia).This study aimed to investigate the genome structure and evolutionary history of B.calcarea.However,our analyses reveal that the species does not belong to Boechera.Instead,an integrative approach combining cytogenetic,phylogenetic and repeatome analysis identified the species as a member of one of more ancestral clades in the tribe Arabideae.The diploid Parryodes calcarea(2n=16)exhibits Arabideae-specific chromosomal signatures,including multiple centromere repositionings.These findings clarify the misclassification of P.calcarea as Boechera,leaving Boechera falcata and Borodinia macrophylla as the only representatives of the Boechereae in the Old World.This study highlights the importance of an integrative approach in resolving taxonomic ambiguities and provides new insights into the diversification of the largest cruciferous tribe,the Arabideae.展开更多
Recurrent pregnancy loss(RPL)affects 2%-5%of couples attempting to conceive.It is a highly heterogenous condition attributed to several factors including endocrine dysfunction,auto immune disorders,thrombophilia,genet...Recurrent pregnancy loss(RPL)affects 2%-5%of couples attempting to conceive.It is a highly heterogenous condition attributed to several factors including endocrine dysfunction,auto immune disorders,thrombophilia,genetic abnormalities,infectious diseases,uterine anomalies,sperm DNA fragmentation,and epigenetics.Among genetic causes,chromosomal abnormalities are the most frequent etiological factor of early miscarriage,accounting for 50%–60%of first trimester abortions.Numerical or structural chromosomal changes may result in spontaneous miscarriages.These anomalies arise as a result of chromosomal translocation,non-disjunction,or mutations[1].Transmission of parental chromosomal abnormalities may be one of the chances for a recurrence of miscarriage in the first trimester of pregnancy,albeit the cause is unknown[2,3].展开更多
[Objective]The aim was to study the effect of herbicide on the growth of early seedlings of rye（Secale cereale）.[Method]Effect of two kinds of herbicide（Atrazine and APM）on seedling growth of rye was investigated ...[Objective]The aim was to study the effect of herbicide on the growth of early seedlings of rye（Secale cereale）.[Method]Effect of two kinds of herbicide（Atrazine and APM）on seedling growth of rye was investigated at the physiological,biochemical and cellular level.[Result]The Atrazin significantly decreased the contents of chlorophyll a,b and soluble proteins.Rye seeds were treated with 0.01-1 mg/L Atrazine for 16 h,the contents of chlorophyll a and b decreased from 1.26（a）,0.49（b）mg/g FW（control）to 1.15（a）,0.46（b）mg/g FW（0.1 mg/L）and 0.81（a）,0.33（b）mg/g FW（1.0 mg/L）.The content of soluble protein decreased with the increasing concentration of Atrazin.Atrazin had no significant influence on the cell division and chromosome structure variation.The contents of chlorophyll a,b and soluble proteins had no significantly change under the treatment of APM,but the number of chromosome structure variation such as chromosome bridge,multipolar division cells,lagging chromosome and unequal division cells increased significantly.[Conclusion]The critical concentration of Atrazine was 0.1-1.0 mg/L and 4 mg/L of APM in rye.展开更多
EKLF is an erythroid-specific, zinc finger-containing transcription factor essential for the activation of the mammalian beta globin gene in erythroid cells of definitive lineage. We have prepared a polyclonal anti-mo...EKLF is an erythroid-specific, zinc finger-containing transcription factor essential for the activation of the mammalian beta globin gene in erythroid cells of definitive lineage. We have prepared a polyclonal anti-mouse EKLF antibody suitable for Western blotting and immunoprecipitation （IP） qualities, and used it to define the expression patterns of the EKLF protein during mouse erythroid development. We have also used this antibody for the chromatin-immunoprecipitation （CHIP） assay. EKLF was found to bind in vivo at both the mouse beta-major-globin promoter and the HS2 site of beta-LCR in the mouse erythroleukemia cells （MEL） in a DMSO-inducible manner. The DMSO-induced bindings of EKLF as well as three other proteins, namely, RNA polymerase Ⅱ, acetylated histone H3, and methylated histone H3, were not abolished but significantly lowered in CB3, a MEL-derived cell line with null-expression of p45/NF-E2, an erythroid-enriched factor needed for activation of the mammalian globin loci. Interestingly, binding of EKLF in vivo was also detected in the mouse alpha-like globin locus, at the adult alpha globin promoter and its far upstream regulatory element alpha-MRE （HS26）. This study provides direct evidence for EKLF-binding in vivo at the major regulatory elements of the mouse beta-like globin gene clusters the data also have interesting implications with respect to the role of EKLF-chromatin interaction in mammalian globin gene regulation.展开更多
The aneuploldy inducing activity of a Chinese medicinal herb, Tripterygium hypoglaucum (level) Hutch (THH) were investigated by means of thhree cytogenetic end points, namely C-mitotic (CM) effects, micronucleus (MN) ...The aneuploldy inducing activity of a Chinese medicinal herb, Tripterygium hypoglaucum (level) Hutch (THH) were investigated by means of thhree cytogenetic end points, namely C-mitotic (CM) effects, micronucleus (MN) and parallel chromosome structural aberration (CA) analyses in vivo. The experiments were performed on mouse bone marrow cells. THH showed similar gentoxic effects to colchicine (COL) in CM, MN and CA analyses; positive CM effects were observed accompanied with increases of mitotic index and frequencies of C-mltotic cells as well as decreased frequencies of anaphase in all of the THH-treated groups. The compound showed a positive MN response in bone marrow polychromatic erythrocytes but was negative in CA analyses. The preliminary results suggested that THH is an aneuploldy inducer in mouse bone marrow cells under present experiment conditions.展开更多
Background:The goal of the assisted reproductive treatment is to transfer one euploid blastocyst and to help infertile women giving birth one healthy neonate.Some algorithms have been used to assess the ploidy status ...Background:The goal of the assisted reproductive treatment is to transfer one euploid blastocyst and to help infertile women giving birth one healthy neonate.Some algorithms have been used to assess the ploidy status of embryos derived from couples with normal chromosome,who subjected to preimplantation genetic testing for aneuploidy(PGT-A)treatment.However,it is currently unknown whether artificial intelligence model can be used to assess the euploidy status of blastocyst derived from populations with chromosomal rearrangement.Methods:From February 2020 to May 2021,we collected the whole raw time-lapse videos at multiple focal planes from in vitro cultured embryos,the clinical information of couples,and the comprehensive chromosome screening results of those blastocysts that had received PGT treatment.Initially,we developed a novel deep learning model called the Attentive Multi-Focus Selection Network(AMSNet)to analyze time-lapse videos in real time and predict blastocyst formation.Building upon AMSNet,we integrated additional clinically predictive variables and created a second deep learning model,the Attentive Multi-Focus Video and Clinical Information Fusion Network(AMCFNet),to assess the euploidy status of embryos.The efficacy of the AMCFNet was further tested in embryos with parental chromosomal rearrangements.The receiver operating characteristic curve(ROC)was used to evaluate the superiority of the model.Results:A total of 4112 embryos with complete time-lapse videos were enrolled for the blastocyst formation prediction task,and 1422 qualified blastocysts received PGT-A(n=589)or PGT for chromosomal structural rearrangement(PGT-SR,n=833)were enrolled for the euploidy assessment task in this study.The AMSNet model using seven focal raw time-lapse videos has the best real-time accuracy.The real-time accuracy for AMSNet to predict blastocyst formation reached above 70%on the day 2 of embryo culture,and then increased to 80%on the day 4 of embryo culture.Combing with 4 clinical features of couples,the AUC of AMCFNet with 7 focal points increased to 0.729 in blastocysts derived from couples with chromosomal rearrangement.Conclusion:Integrating seven focal raw time-lapse images of embryos and parental clinical information,AMCFNet model have the capability of assessing euploidy status in blastocysts derived from couples with chromosomal rearrangement.展开更多
Preimplantation genetic testing(PGT)is an early form of prenatal genetic diagnosis,which can identify the abnormal embryos cultured in vitro,allow only transfer of genetically normal embryos,and improve the pregnancy ...Preimplantation genetic testing(PGT)is an early form of prenatal genetic diagnosis,which can identify the abnormal embryos cultured in vitro,allow only transfer of genetically normal embryos,and improve the pregnancy rate.In recent years,the rapid development of microarrays and next-generation sequencing(NGS)technologies has remarkably accelerated the clinical application of PGT.In particular,a variety of detection methods have emerged and achieved significant progress in PGT for structural rearrangements(PGT-SR).The detection-related abilities of these methods range from the detection of limited chromosome aneuploidy to comprehensive chromosome screening of the whole genome to differentiation of embryos with normal or balanced translocation/inversion karyotypes.In this study,we reviewed PGT-SR-related detection techniques to provide a better reference for clinical application and research.We have also discussed the potential development of novel techniques in the future.展开更多
基金supported by the Science and Technology Major Project of Shanxi Province,China(202201140601025-2,202302140601001)the Agricultural Science Research Project of Shanxi Agricultural University,China(2023BQ108)+1 种基金the Senior Foreign Experts Introducing Project,China(G202204011L)the Science and Technology Innovation Young Talent Team of Shanxi Province,China(202204051001019)。
文摘Structural variation is an important source of genetic variation in wheat and have been important in the evolution of the wheat's genome.Few studies have examined the relationship between structural variations and agronomy and drought tolerance.The present study identified structural chromosome variations(SCVs)in a doubled haploid(DH)population and backcross introgression lines(BC5F3)derived from Jinmai 47 and Jinmai 84 using fluorescence in situ hybridization(FISH).There are one simple translocation,10 present/absent variations(PAVs),and one copy number variation(CNV)between Jinmai 47 and Jinmai 84,which distributed in 10 chromosomes.Eight SCVs were associated with 15 agronomic traits.A PAV recombination occurred on chromosome 2A,which was associated with grain number per spike(GNS).The 1BL/1RS translocation and PAV.2D were associated with significant reductions in plant height,deriving from the effects on LI2-LI4,LI2-LI4 and UI,respectively respectively.PAV.2D was also contributed to an increase of 3.13%for GNS,1BL/1RS significantly increased spikelet number,grain length(GL),and grain thickness(GT).The effect of PAV.4A.1 on GL,PAV.6A on spike length(SL)and thousand-grain weight(TGW),PAV.6B on SL,GT and TGW were identified and verified.PAVs on chromosomes 2A,6A,1D,2D,and a CNV on chromosome 4B were associated with the drought tolerance coefficients.Additive and interaction effects among SCVs were observed.Many previously cloned key genes and yield-related QTL were found in polymorphic regions of PAV.2B,PAV.2D,and CNV.4B.Altogether,this study confirmed the genetic effect of SCVs on agronomy and drought tolerance,and identification of these SCVs will facilitate genetic improvement of wheat through marker-assisted selection.
基金supported by the Czech Science Foundation(projects 24-11371S to TM and 2306840S to MAL)Masaryk University Grant Agency(project MUNI/R/1268/2022 to TM)+1 种基金part of a long-term research project of the Czech Academy of Sciences,Institute of Botany(RVO 67985939)provided by the ELIXIR-CZ project(LM2023055),part of the international ELIXIR infrastructure。
文摘The genus Boechera(Brassicaceae)serves as a model system for studying apomictic reproduction and ecological adaptations,with most species occurring in North America.The rare occurrence of Boechera species outside their typical range provides unique opportunities to investigate genome evolution in extralimital environments.One such species,B.calcarea,has been described from the Chandalaz Mountains in northeastern Asia(Russia).This study aimed to investigate the genome structure and evolutionary history of B.calcarea.However,our analyses reveal that the species does not belong to Boechera.Instead,an integrative approach combining cytogenetic,phylogenetic and repeatome analysis identified the species as a member of one of more ancestral clades in the tribe Arabideae.The diploid Parryodes calcarea(2n=16)exhibits Arabideae-specific chromosomal signatures,including multiple centromere repositionings.These findings clarify the misclassification of P.calcarea as Boechera,leaving Boechera falcata and Borodinia macrophylla as the only representatives of the Boechereae in the Old World.This study highlights the importance of an integrative approach in resolving taxonomic ambiguities and provides new insights into the diversification of the largest cruciferous tribe,the Arabideae.
文摘Recurrent pregnancy loss(RPL)affects 2%-5%of couples attempting to conceive.It is a highly heterogenous condition attributed to several factors including endocrine dysfunction,auto immune disorders,thrombophilia,genetic abnormalities,infectious diseases,uterine anomalies,sperm DNA fragmentation,and epigenetics.Among genetic causes,chromosomal abnormalities are the most frequent etiological factor of early miscarriage,accounting for 50%–60%of first trimester abortions.Numerical or structural chromosomal changes may result in spontaneous miscarriages.These anomalies arise as a result of chromosomal translocation,non-disjunction,or mutations[1].Transmission of parental chromosomal abnormalities may be one of the chances for a recurrence of miscarriage in the first trimester of pregnancy,albeit the cause is unknown[2,3].
基金Supported by Key Project for Science Researches of Ministry of Education(02010)~~
文摘[Objective]The aim was to study the effect of herbicide on the growth of early seedlings of rye（Secale cereale）.[Method]Effect of two kinds of herbicide（Atrazine and APM）on seedling growth of rye was investigated at the physiological,biochemical and cellular level.[Result]The Atrazin significantly decreased the contents of chlorophyll a,b and soluble proteins.Rye seeds were treated with 0.01-1 mg/L Atrazine for 16 h,the contents of chlorophyll a and b decreased from 1.26（a）,0.49（b）mg/g FW（control）to 1.15（a）,0.46（b）mg/g FW（0.1 mg/L）and 0.81（a）,0.33（b）mg/g FW（1.0 mg/L）.The content of soluble protein decreased with the increasing concentration of Atrazin.Atrazin had no significant influence on the cell division and chromosome structure variation.The contents of chlorophyll a,b and soluble proteins had no significantly change under the treatment of APM,but the number of chromosome structure variation such as chromosome bridge,multipolar division cells,lagging chromosome and unequal division cells increased significantly.[Conclusion]The critical concentration of Atrazine was 0.1-1.0 mg/L and 4 mg/L of APM in rye.
文摘EKLF is an erythroid-specific, zinc finger-containing transcription factor essential for the activation of the mammalian beta globin gene in erythroid cells of definitive lineage. We have prepared a polyclonal anti-mouse EKLF antibody suitable for Western blotting and immunoprecipitation （IP） qualities, and used it to define the expression patterns of the EKLF protein during mouse erythroid development. We have also used this antibody for the chromatin-immunoprecipitation （CHIP） assay. EKLF was found to bind in vivo at both the mouse beta-major-globin promoter and the HS2 site of beta-LCR in the mouse erythroleukemia cells （MEL） in a DMSO-inducible manner. The DMSO-induced bindings of EKLF as well as three other proteins, namely, RNA polymerase Ⅱ, acetylated histone H3, and methylated histone H3, were not abolished but significantly lowered in CB3, a MEL-derived cell line with null-expression of p45/NF-E2, an erythroid-enriched factor needed for activation of the mammalian globin loci. Interestingly, binding of EKLF in vivo was also detected in the mouse alpha-like globin locus, at the adult alpha globin promoter and its far upstream regulatory element alpha-MRE （HS26）. This study provides direct evidence for EKLF-binding in vivo at the major regulatory elements of the mouse beta-like globin gene clusters the data also have interesting implications with respect to the role of EKLF-chromatin interaction in mammalian globin gene regulation.
文摘The aneuploldy inducing activity of a Chinese medicinal herb, Tripterygium hypoglaucum (level) Hutch (THH) were investigated by means of thhree cytogenetic end points, namely C-mitotic (CM) effects, micronucleus (MN) and parallel chromosome structural aberration (CA) analyses in vivo. The experiments were performed on mouse bone marrow cells. THH showed similar gentoxic effects to colchicine (COL) in CM, MN and CA analyses; positive CM effects were observed accompanied with increases of mitotic index and frequencies of C-mltotic cells as well as decreased frequencies of anaphase in all of the THH-treated groups. The compound showed a positive MN response in bone marrow polychromatic erythrocytes but was negative in CA analyses. The preliminary results suggested that THH is an aneuploldy inducer in mouse bone marrow cells under present experiment conditions.
基金supported by grants from the National Natural Science Found of China(No.81270750)Natural Science Found of Guangdong China(No.2019A1515011845)+1 种基金Stem Cell Research Founding from Chinese Medical Association(No.19020010780)Sun Yat-sen University 5010 Clinical Research Project(No.2023003).
文摘Background:The goal of the assisted reproductive treatment is to transfer one euploid blastocyst and to help infertile women giving birth one healthy neonate.Some algorithms have been used to assess the ploidy status of embryos derived from couples with normal chromosome,who subjected to preimplantation genetic testing for aneuploidy(PGT-A)treatment.However,it is currently unknown whether artificial intelligence model can be used to assess the euploidy status of blastocyst derived from populations with chromosomal rearrangement.Methods:From February 2020 to May 2021,we collected the whole raw time-lapse videos at multiple focal planes from in vitro cultured embryos,the clinical information of couples,and the comprehensive chromosome screening results of those blastocysts that had received PGT treatment.Initially,we developed a novel deep learning model called the Attentive Multi-Focus Selection Network(AMSNet)to analyze time-lapse videos in real time and predict blastocyst formation.Building upon AMSNet,we integrated additional clinically predictive variables and created a second deep learning model,the Attentive Multi-Focus Video and Clinical Information Fusion Network(AMCFNet),to assess the euploidy status of embryos.The efficacy of the AMCFNet was further tested in embryos with parental chromosomal rearrangements.The receiver operating characteristic curve(ROC)was used to evaluate the superiority of the model.Results:A total of 4112 embryos with complete time-lapse videos were enrolled for the blastocyst formation prediction task,and 1422 qualified blastocysts received PGT-A(n=589)or PGT for chromosomal structural rearrangement(PGT-SR,n=833)were enrolled for the euploidy assessment task in this study.The AMSNet model using seven focal raw time-lapse videos has the best real-time accuracy.The real-time accuracy for AMSNet to predict blastocyst formation reached above 70%on the day 2 of embryo culture,and then increased to 80%on the day 4 of embryo culture.Combing with 4 clinical features of couples,the AUC of AMCFNet with 7 focal points increased to 0.729 in blastocysts derived from couples with chromosomal rearrangement.Conclusion:Integrating seven focal raw time-lapse images of embryos and parental clinical information,AMCFNet model have the capability of assessing euploidy status in blastocysts derived from couples with chromosomal rearrangement.
基金supported by the Science and Technology Innovation Action Plan Program of Shanghai(18411953800)Shanghai Municipal Health Commission(20194Y0002).
文摘Preimplantation genetic testing(PGT)is an early form of prenatal genetic diagnosis,which can identify the abnormal embryos cultured in vitro,allow only transfer of genetically normal embryos,and improve the pregnancy rate.In recent years,the rapid development of microarrays and next-generation sequencing(NGS)technologies has remarkably accelerated the clinical application of PGT.In particular,a variety of detection methods have emerged and achieved significant progress in PGT for structural rearrangements(PGT-SR).The detection-related abilities of these methods range from the detection of limited chromosome aneuploidy to comprehensive chromosome screening of the whole genome to differentiation of embryos with normal or balanced translocation/inversion karyotypes.In this study,we reviewed PGT-SR-related detection techniques to provide a better reference for clinical application and research.We have also discussed the potential development of novel techniques in the future.
