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Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice

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Zoological Research 2024年第5期45卷 1073-1087页

作者： Jing-Wei Ye Tanveer Abbas Jian-Teng Zhou Jing Chen Meng-Lei Yang Xiong-Heng huang huan Zhang Hui Ma Ao Ma Bo Xu Ghulam Murtaza qing-hua shi Bao-Lu shi Division of Reproduction and Genetics First Affiliated Hospital of University of Science and Technology of ChinaHefei National Laboratory for Physical Sciences at MicroscaleSchool of Basic Medical SciencesDivision of Life Sciences and MedicineBiomedical Sciences and Health Laboratory of Anhui ProvinceInstitute of Health and MedicineHefei Comprehensive National Science CenterUniversity of Science and Technology of ChinaHefeiAnhui 230026China Institute of Andrology Nanjing Drum Tower HospitalAffiliated Hospital of Nanjing University Medical SchoolNanjingJiangsu 210008China

Infertility represents a significant health concern,with sperm quantity and quality being crucial determinants of male ***(OAT)is characterized by reduced sperm motility,lower sperm concentration,and morphological abnormalities in sperm heads and *** variants in several genes have been implicated in OAT,its genetic etiologies and pathogenetic mechanisms remain inadequately *** this study,we identified a homozygous nonsense mutation(c.916C>T,***306*)in the coiled-coil domain containing 146(CCDC146)gene in an infertile male patient with *** mutation resulted in the production of a truncated CCDC146 protein(amino acids 1-305),retaining only two out of five coiled-coil *** validate the pathogenicity of the CCDC146 mutation,we generated a mouse model(Ccdc146^(mut/mut))with a similar mutation to that of the ***,the Ccdc146mut/mut mice exhibited infertility,characterized by significantly reduced sperm counts,diminished motility,and multiple defects in sperm heads and ***,the levels of axonemal proteins,including DNAH17,DNAH1,and SPAG6,were significantly reduced in the sperm of Ccdc146^(mut/mut) ***,both human and mouse CCDC146 interacted with intraflagellar transport protein 20(IFT20),but this interaction was lost in the mutated versions,leading to the degradation of *** study identified a novel deleterious homozygous nonsense mutation in CCDC146 that causes male infertility,potentially by disrupting axonemal protein *** findings offer valuable insights for genetic counseling and understanding the mechanisms underlying CCDC146 mutant-associated infertility in human males.

关键词： Oligoasthenoteratozoospermia Human infertility Sperm flagellum CCDC146 Intraflagellar transport IFT20

Blood-testis barrier and spermatogenesis： lessons From genetically-modified mice

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Asian Journal of Andrology 2014年第4期16卷 572-580页

作者： Xiao-hua Jiang Ihtisham Bukhari Wei Zheng shi Yin Zheng Wang Howard J Cooke qing-hua shi Hefei National Laboratory for Physical Sciences at Microscale School of Life Sciences University of Science and Technology of China Hefei China Medical Research Council Human Genetics Unit and Institute of Genetics and Molecular Medicine University of Edinburgh Edinburgh United Kingdom Institute of Physics Chinese Academy of Sciences Hefei China.

The blood-testis barrier （BTB） is found between adjacent Sertoli cells in the testis where it creates a unique microenvironment for the development and maturation of meiotic and postmeiotic germ cells in seminiferous tubes. It is a compound proteinous structure, composed of several types of cell junctions including tight junctions （TJs）, adhesion junctions and gap junctions （GJs）. Some of the junctional proteins function as structural proteins of BTB and some have regulatory roles. The deletion or functional silencing of genes encoding these proteins may disrupt the BTB, which may cause immunological or other damages to meiotic and postmeiotic cells and ultimately lead to spermatogenic arrest and infertility. In this review, we will summarize the findings on the BTB structure and function from genetically-modified mouse models and discuss the future perspectives.

关键词： blood-testis barrier genetically-modified mouse seminiferous tubule sertoli cells spermatogenesis

Photosynthesis and Water Use Efficiency of Platycladus Orientalis and Robinia Pseudoacacia Saplings under Steady Soil Water Stress during Different Stages of Their Annual Growth Period

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Journal of Integrative Plant Biology 2007年第10期49卷 1470-1477页

作者： Ming-Chun Wang Jin-Xin Wang qing-hua shi Jin-Song Zhang College of Forestry Northwest A&F University Yangling Shaanxi China712100 College of Resources and Environment Northwest A&F University Yangling Shaanxi China712100 Research Institute of Forestry Chinese Academy of Forestry Beijing China100091

A simulated drought experiment was conducted in a rain-free shed to test the physiological response of Platycladus orientalis and Robinia pseudoacacia saplings to steady soil water stress during different stages. The five soil water treatments were： 100%, 87.84%, 70%, 52.16% and 40% of field capacity. The results showed that the net photosynthetic rate of R. pseudoacacia decreased as soil water potential decreased in the range between -0.041 MPa and -0.292 MPa. The threshold value at which the net photosynthetic rate changed significantly was -0.12 MPa. The relationship between net photosynthetic rate of P. orientalis and soil water potential could be described as a quadratic parabola in the range between -0.041 MPa and -0.648 MPa. Analysis of variance showed significant differences in the net photosynthetic rate of P. orientalis between soil water potentials of -0.061 MPa ~, -0.648 MPa. Average water use efficiency （WUE） increased as soil water potential decreased, but the influence mechanism of soil water stress on leaf WUE and photosynthetic rate for the two species were different evidently.

关键词： growth stages photosynthesis Platycladus onentalis Robinia pseudoacacia sapling steady water stress water use efficiency.

The molecular control of meiotic double-strand break (DSB) formation and its significance in human infertility

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Asian Journal of Andrology 2021年第6期23卷 555-561页

作者： Yang Li Yu-Fan Wu Han-Wei Jiang Ranjha Khan Qi-Qi Han Furhan Iqbal Xiao-hua Jiang qing-hua shi Division of Reproduction and Genetics First Affiliated Hospital of USTCHefei National Laboratory for Physical Sciences at Microscalethe CAS Key Laboratory of Innate Immunity and Chronic DiseaseSchool of Basic Medical SciencesDivision of Life Sciences and MedicineCAS Center for Excellence in Molecular Cell ScienceCollaborative Innovation Center of Genetics and DevelopmentUniversity of Science and Technology of ChinaHefei 230027China Institute of Pure and Applied Biology Bahauddin Zakariya UniversityMultan 60000Pakistan

Meiosis is an essential step in gametogenesis which is the key process in sexually reproducing organisms as meiotic aberrations may result in infertility. In meiosis, programmed DNA double-strand break (DSB) formation is one of the fundamental processes that are essential for maintaining homolog interactions and correcting segregation of chromosomes. Although the number and distribution of meiotic DSBs are tightly regulated, still abnormalities in DSB formation are known to cause meiotic arrest and infertility. This review is a detailed account of molecular bases of meiotic DSB formation, its evolutionary conservation, and variations in different species. We further reviewed the mutations of DSB formation genes in association with human infertility and also proposed the future directions and strategies about the study of meiotic DSB formation.

关键词： DNA double-strand break(DSB) infertility meiosis mutation

Photothermal properties of Cu@polycarbonate composites with strong localized surface plasmon resonances

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Nano Research 2024年第9期17卷 8513-8520页

作者： Fengyi Wang Jiangling He Junshan Hu Zhihui Chen Yumeng shi qing-hua Xu SZU-NUS Collaborative Innovation Center for Optoelectronic Science and Technology International Collaborative Laboratory of 2D Materials for Optoelectronics Science and Technology of Ministry of EducationInstitute of Microscale OptoelectronicsShenzhen UniversityShenzhen 518060China Department of Chemistry National University of Singapore3 Science Drive 3Singapore 117543Singapore College of Materials Science and Engineering Sichuan UniversityChengdu 610065China

Copper is relatively low cost and highly abundant compared with the well-studied noble metals such as gold and ***,the poor plasmonic and high susceptibility towards oxidation limit the study of its optical properties and applications as ***,copper nanoparticles@polycarbonate(Cu@PC)composites were prepared by using a facile one-step solvothermal *** Cu@PC composites have strong localized surface plasmon resonances(LSPR)due to that the PC shell can induce the particles to form many-particles system with different particle numbers,which not only lead to overlap and hybridize of the LSPR modes,but also shift the LSPR away from the interband transitions,and the PC layer also prevents the oxidation of Cu *** photothermal conversion efficiency of Cu@PC composites reaches 41.1%under 808 nm continuous wave(CW)laser irradiation which is higher than previously reported Cu nanomaterials that have been ***,the composites also have high photothermal ***,interfacial evaporator is prepared by assembling the Cu@PC composites on scouring sponge as light absorption layer which has>92.8%absorption in entire solar spectrum *** seawater evaporation rate is 3.177 kg·m^(-2)·h^(-1)with a E_(evaporator)/E_(water)of *** high evaporation rate interfacial evaporator with low cost,simple,and scalable approach shows great application value in the field of photothermal evaporation.

关键词： Cu nanoparticles localized surface plasmon resonances(LSPR) photothermal interfacial evaporation

Learning topological defects formation with neural networks in a quantum phase transition

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Communications in Theoretical Physics 2024年第5期76卷 68-76页

作者： Han-qing shi Hai-qing Zhang Center for Gravitational Physics Department of Space ScienceBeihang UniversityBeijing 100191China Peng huanwu Collaborative Center for Research and Education Beihang UniversityBeijing 100191China

Neural networks possess formidable representational power,rendering them invaluable in solving complex quantum many-body *** they excel at analyzing static solutions,nonequilibrium processes,including critical dynamics during a quantum phase transition,pose a greater challenge for neural *** address this,we utilize neural networks and machine learning algorithms to investigate time evolutions,universal statistics,and correlations of topological defects in a one-dimensional transverse-field quantum Ising ***,our analysis involves computing the energy of the system during a quantum phase transition following a linear quench of the transverse magnetic field *** excitation energies satisfy a power-law relation to the quench rate,indicating a proportional relationship between the excitation energy and the kink ***,we establish a universal power-law relationship between the first three cumulants of the kink numbers and the quench rate,indicating a binomial distribution of the ***,the normalized kink-kink correlations are also investigated and it is found that the numerical values are consistent with the analytic formula.

关键词： neural networks machine learning transverse-field quantum Ising model kibble-zurek mechanism

CFTR mutations causing congenital unilateral absence of the vas deferens(CUAVD)and congenital absence of the uterus(CAU)in a consanguineous family

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Asian Journal of Andrology 2022年第4期24卷 416-421页

作者： Mahdieh Daliri Ghouchanatigh Ranjha Khan Majid Mojarrad Uzma Hameed Muhammad Zubair Ahmed Waqas Mohsen Jalali Mahmoudreza Kalantari Ali Shamsa huan Zhang qing-hua shi The First Affiliated Hospital of USTC Hefei National Laboratory for Physical Sciences at the MicroscaleSchool of Life SciencesCAS Center for Excellence in Molecular Cell ScienceUniversity of Science and Technology of ChinaCollaborative Innovation Center of Genetics and DevelopmentHefei 230027China Department of Medical Genetics School of MedicineMashhad University of Medical SciencesMashhad 91735Iran Institute of Industrial Biotechnology Government College UniversityLahore 54000Pakistan Department of Zoology Division of Science and TechnologyUniversity of Education LahoreMultan CampusMultan 60000Pakistan Department of Reproductive Medicine Armaghan Infertility CenterMashhad 91735Iran Department of Pathology Mashhad University of Medical SciencesMashhad 91735Iran.

Cystic fibrosis(CF)is one of the most common recessive genetic diseases,with a wide spectrum of phenotypes,ranging from infertility to severe pulmonary *** in the cystic fibrosis transmembrane conductance regulator(CFTR)gene are considered the main genetic cause for *** this study,we recruited a consanguineous Iranian pedigree with four male patients diagnosed with congenital unilateral absence of the vas deferens(CUAVD),and one female patient diagnosed with congenital absence of the uterus(CAU).Testicular biopsy of one patient was performed,and hematoxylin and eosin(H and E)staining of testis sections displayed the presence of germ cell types ranging from spermatogonia to mature spermatids,indicating obstructive *** explore the underlying genetic factor in this familial disorder,we therefore performed whole-exome sequencing(WES)on all available family *** data filtration and CFTR haplotype analysis identified compound heterozygous mutations in CFTR among four patients(two CUAVD patients carried p.H949Y and p.L997F,and one CUAVD and the female CAU patient carried p.H949Y and p.I148T).All these mutations were predicted to be deleterious by at least half of the prediction software programs and were confirmed by Sanger *** study reported that CFTR compound heterozygous mutations in a consanguineous Iranian family cause infertility in both sexes.

关键词： congenital absence of the uterus congenital unilateral absence of the vas deferens cystic fibrosis transmembrane conductance regulator whole-exome sequencing

Circ_0004592:An auxiliary diagnostic biomarker for gastric cancer

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World Journal of Gastrointestinal Oncology 2024年第6期16卷 2757-2768页

作者： Shan Kong Yan-hua Xu Ming Zheng Shao-qing Ju Heng-Chuan shi Department of Laboratory Medicine Jiangsu Province Official HospitalNanjing 210000Jiangsu ProvinceChina Department of Laboratory Medicine Northern Jiangsu People’s HospitalYangzhou 225000Jiangsu ProvinceChina Department of Laboratory Medicine The Affiliated Hospital of Nantong UniversityNantong 226001Jiangsu ProvinceChina

BACKGROUND Gastric cancer(GC)has a high mortality rate,and robust diagnostic biomarkers are currently ***,the clinical relevance of circular RNAs(circRNAs)as GC biomarkers remains largely *** To evaluate the potential of novel circRNA circ_0004592 in the early screening and prognosis of *** High-throughput sequencing of circRNAs was performed to screen for potential target ***_0004592 expression was examined in GC tissues,cells,and *** samples were collected from healthy subjects’patients,as well as from patients with benign lesions,precancerous lesions,and GC,whereafter the diagnostic accuracy of circ_0004592 was *** correlation between circ_0004592 levels in plasma and clinicopathological data of patients with GC was further *** Circ_0004592 was upregulated in both the tissue and plasma of patients with ***,circ_0004592 expression was higher in patients with precancerous lesions than in healthy controls while being highest in patients with *** the same patient,the postoperative plasma level of circ_0004592 was lower than that in the preoperative ***,circ_0004592 level was significantly correlated with tumor differentiation,tumor depth,and lymph node *** area under the curve(AUC)of plasma circ_0004592 exhibited high sensitivity and specificity for differentiating patients with GC from healthy *** based on circ_0004592,carcinoembryonic antigen,and cancer antigen 199 achieved a superior AUC and was highly *** Plasma circ_0004592 may represent a potential non-invasive auxiliary diagnostic biomarker for patients with GC.

关键词： Biomarker Circular RNA Diagnosis Gastric cancer Plasma

A novel weld-pool-length monitoring method based on pixel analysis in plasma arc additive manufacturing

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Advances in Manufacturing 2024年第2期12卷 335-348页

作者： Bao-Ri Zhang Yong-hua shi Bionic Robot Research Department Ji Hua LaboratoryFoshan528200GuangdongPeople’s Republic of China Guangdong Provincial Engineering Research Center for Special Welding Technology and Equipment School of Mechanical and Automotive EngineeringSouth China University of TechnologyGuangzhou510640People’s Republic of China

The real-time monitoring of the weld pool during deposition is important for automatic control in plasma arc additive *** obtain a high deposition accuracy,it is essential to maintain a stable weld pool *** this study,a novel passive visual method is proposed to measure the weld pool *** the proposed method,the image quality was improved by designing a special visual system that employed an endoscope and a *** also includes pixel brightness-based and gradient-based algorithms that can adaptively detect feature points at the boundary when the weld pool geometry *** algorithm can also be applied to materials with different solidification *** was performed to measure the real weld pool length in world coordinates,and outlier rejection was performed to increase the accuracy of the ***,tests were carried out on the intersection component,and the results showed that the proposed method performed well in tracking the changing weld pool length and was applicable to the real-time monitoring of different types of materials.

关键词： Plasma arc additive manufacturing(PAAM) Weld pool geometry Gradient analysis Real-time detection