染色质转座酶可及性测序(assay for transposase-accessible chromatin with high-throughput sequencing,ATAC-seq)是利用Tn5转座酶研究染色质可及性的高通量测序技术。ATAC-seq可以在全基因组范围内绘制染色质可及性图谱,揭示转录因...染色质转座酶可及性测序(assay for transposase-accessible chromatin with high-throughput sequencing,ATAC-seq)是利用Tn5转座酶研究染色质可及性的高通量测序技术。ATAC-seq可以在全基因组范围内绘制染色质可及性图谱,揭示转录因子结合位点以及核小体的位置。在医学领域,ATAC-seq技术是研究重大疾病发病机制、药物作用机制、新药研发和生物标志物功能等的新一代有力工具。本文对ATAC-seq技术的优势及其在复杂疾病研究中的应用和前景进行了综述,以期为人类复杂疾病基因表达调控机制等相关研究的开展提供借鉴与参考。展开更多
Environment-friendly energy storage and conversion technologies,such as metal-air batteries and fuel cells,are considered promising approaches to address growing environmental concerns.The oxygen reduction reaction(OR...Environment-friendly energy storage and conversion technologies,such as metal-air batteries and fuel cells,are considered promising approaches to address growing environmental concerns.The oxygen reduction reaction(ORR)is the core of renewable energy conversion technology and plays an irreplaceable role in this fundamental issue.However,the complex multi-reaction process of the ORR presents a bottleneck that limits efforts to accelerate its kinetics.Traditionally,Pt and Pt-based catalysts are regarded as a good choice to improve the sluggish kinetics of the ORR.However,because Pt-based catalysts are expensive and have low durability,their use to resolve the energy crisis and current environmental challenges is impractical.Hence,exploring low-cost,highly active,and durable ORR catalysts as potential alternatives to commercial Pt/C is an urgent undertaking.Atomic cluster catalysts(ACCs)may be suitable alternatives to commercial Pt/C catalysts owing to their ultra-high atomic utilization efficiency,unique electronic structure,and stable nanostructures.However,despite the significant progress achieved in recent years,ACCs remain unusable for practical applications.In this study,a facile plasma bombing method combined with an acid washing strategy is proposed to fabricate an atomic Co cluster-decorated porous carbon supports catalyst(CoAC/NC)showing improved ORR performance.The typical atomic cluster features of the resultant CoAC/NC catalyst are confirmed using comprehensive characterization techniques.The CoAC/NC catalyst exhibits considerable ORR activity with a half-wave potential of as high as 0.887 V(versus a reversible hydrogen electrode(RHE)),which is much higher than that of a commercial Pt/C catalyst.More importantly,the CoAC/NC catalyst displays excellent battery performance when applied to a Zn-air battery,showing a peak power density of 181.5 mW·cm^(-2)and long discharge ability(over 67 h at a discharge current density of 5 mA·cm^(-2)).The desirable ORR performance of the fabricated CoAC/NC catalyst could be mainly attributed to the high atom utilization efficiency and stable active sites endowed by the unique Co atomic clusters,as well as synergistic effects between the neighboring Co atoms of these clusters.Moreover,the high specific surface area and wide pore distribution of the catalyst offer abundant accessible active sites for the ORR.This work not only provides an outstanding alternative to commercial Pt catalysts for the ORR but also offers new insights into the rational design and practical application of ACCs.展开更多
Multiple morphological abnormalities of the sperm flagella(MMAF)are characterized by bent,irregular,short,coiled,and absent flagella.MMAF is caused by a variety of genes,some of which have been identified.However,the ...Multiple morphological abnormalities of the sperm flagella(MMAF)are characterized by bent,irregular,short,coiled,and absent flagella.MMAF is caused by a variety of genes,some of which have been identified.However,the underlying genetic factors responsible for the majority of MMAF cases are still largely unknown.The glutamine-rich 2(QRICH2)gene plays an essential role in the development of sperm flagella by regulating the expression of essential sperm flagellar biogenesis-associated proteins,and genetic variants of QRICH2 have been identified as the primary cause of MMAF in humans and mice.Here,we recruited a Pakistani consanguineous family to identify the genetic variant causing infertility in patients with MMAF.Whole-exome sequencing and Sanger sequencing were conducted to identify potentially pathogenic variants causing MMAF in infertile patients.Hematoxylin and eosin(HE)staining was performed to analyze sperm morphology.Quantitative polymerase chain reaction,western blot,and immunofluorescence staining analyses were conducted to observe the expression of QRICH2 in spermatozoa.A novel homozygous missense variant(c.4618C>T)in QRICH2 was identified in the affected patients.Morphological analysis of spermatozoa revealed the MMAF phenotype in infertile patients.qPCR revealed a significant reduction in the level of sperm QRICH2 mRNA,and immunofluorescence staining revealed a lack of sperm QRICH2 expression.Additionally,patients harboring a homozygous QRICH2 mutation presented reduced expression of outer dense fiber 2(ODF2)in sperm,whereas sperm expression of A-kinase anchor protein 4(AKAP4)was normal.These findings expand our understanding of the genetic causes of MMAF-associated male infertility and emphasize the importance of genetic counseling.展开更多
文摘染色质转座酶可及性测序(assay for transposase-accessible chromatin with high-throughput sequencing,ATAC-seq)是利用Tn5转座酶研究染色质可及性的高通量测序技术。ATAC-seq可以在全基因组范围内绘制染色质可及性图谱,揭示转录因子结合位点以及核小体的位置。在医学领域,ATAC-seq技术是研究重大疾病发病机制、药物作用机制、新药研发和生物标志物功能等的新一代有力工具。本文对ATAC-seq技术的优势及其在复杂疾病研究中的应用和前景进行了综述,以期为人类复杂疾病基因表达调控机制等相关研究的开展提供借鉴与参考。
文摘Environment-friendly energy storage and conversion technologies,such as metal-air batteries and fuel cells,are considered promising approaches to address growing environmental concerns.The oxygen reduction reaction(ORR)is the core of renewable energy conversion technology and plays an irreplaceable role in this fundamental issue.However,the complex multi-reaction process of the ORR presents a bottleneck that limits efforts to accelerate its kinetics.Traditionally,Pt and Pt-based catalysts are regarded as a good choice to improve the sluggish kinetics of the ORR.However,because Pt-based catalysts are expensive and have low durability,their use to resolve the energy crisis and current environmental challenges is impractical.Hence,exploring low-cost,highly active,and durable ORR catalysts as potential alternatives to commercial Pt/C is an urgent undertaking.Atomic cluster catalysts(ACCs)may be suitable alternatives to commercial Pt/C catalysts owing to their ultra-high atomic utilization efficiency,unique electronic structure,and stable nanostructures.However,despite the significant progress achieved in recent years,ACCs remain unusable for practical applications.In this study,a facile plasma bombing method combined with an acid washing strategy is proposed to fabricate an atomic Co cluster-decorated porous carbon supports catalyst(CoAC/NC)showing improved ORR performance.The typical atomic cluster features of the resultant CoAC/NC catalyst are confirmed using comprehensive characterization techniques.The CoAC/NC catalyst exhibits considerable ORR activity with a half-wave potential of as high as 0.887 V(versus a reversible hydrogen electrode(RHE)),which is much higher than that of a commercial Pt/C catalyst.More importantly,the CoAC/NC catalyst displays excellent battery performance when applied to a Zn-air battery,showing a peak power density of 181.5 mW·cm^(-2)and long discharge ability(over 67 h at a discharge current density of 5 mA·cm^(-2)).The desirable ORR performance of the fabricated CoAC/NC catalyst could be mainly attributed to the high atom utilization efficiency and stable active sites endowed by the unique Co atomic clusters,as well as synergistic effects between the neighboring Co atoms of these clusters.Moreover,the high specific surface area and wide pore distribution of the catalyst offer abundant accessible active sites for the ORR.This work not only provides an outstanding alternative to commercial Pt catalysts for the ORR but also offers new insights into the rational design and practical application of ACCs.
基金supported by the National Key Research and Development Program of China(2021YFC2700202,2022YFA0806303 and 2022YFC2702601)the Global Select Project of the Institute of Health and Medicine,Hefei Comprehensive National Science Center(DJK-LX-2022010)+1 种基金USTC Research Funds of the Double First-Class Initiative(the Joint Fund for New Medicine of USTC)(YD9100002034)the Fundamental Research Funds for the Central Universities(WK9100000004).
文摘Multiple morphological abnormalities of the sperm flagella(MMAF)are characterized by bent,irregular,short,coiled,and absent flagella.MMAF is caused by a variety of genes,some of which have been identified.However,the underlying genetic factors responsible for the majority of MMAF cases are still largely unknown.The glutamine-rich 2(QRICH2)gene plays an essential role in the development of sperm flagella by regulating the expression of essential sperm flagellar biogenesis-associated proteins,and genetic variants of QRICH2 have been identified as the primary cause of MMAF in humans and mice.Here,we recruited a Pakistani consanguineous family to identify the genetic variant causing infertility in patients with MMAF.Whole-exome sequencing and Sanger sequencing were conducted to identify potentially pathogenic variants causing MMAF in infertile patients.Hematoxylin and eosin(HE)staining was performed to analyze sperm morphology.Quantitative polymerase chain reaction,western blot,and immunofluorescence staining analyses were conducted to observe the expression of QRICH2 in spermatozoa.A novel homozygous missense variant(c.4618C>T)in QRICH2 was identified in the affected patients.Morphological analysis of spermatozoa revealed the MMAF phenotype in infertile patients.qPCR revealed a significant reduction in the level of sperm QRICH2 mRNA,and immunofluorescence staining revealed a lack of sperm QRICH2 expression.Additionally,patients harboring a homozygous QRICH2 mutation presented reduced expression of outer dense fiber 2(ODF2)in sperm,whereas sperm expression of A-kinase anchor protein 4(AKAP4)was normal.These findings expand our understanding of the genetic causes of MMAF-associated male infertility and emphasize the importance of genetic counseling.
