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Two missense STK11 gene variations impaired LKB1/adenosine monophosphate-activated protein kinase signaling in Peutz-Jeghers syndrome

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World Journal of Gastrointestinal Oncology 2024年第4期16卷 1532-1546页

作者： Jin Liu Si-Cong Zeng An Wang Hai-Ying Cheng Qian-Jun Zhang guang-xiu lu Hunan guangxiu Hospital Hunan Normal UniversityChangsha 410000Hunan ProvinceChina Scientific Research Department Reproductive and Genetic Hospital of Citic-XiangyaChangsha 410000Hunan ProvinceChina

BACKGROUND Peutz-Jeghers syndrome(PJS)is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11(STK11/LKB1)gene *** genetic testing can protect a patient’s offspring from mutated genes;however,some variations in this gene have been interpreted as variants of uncertain significance(VUS),which complicate reproductive decision-making in genetic *** To identify the pathogenicity of two missense variants and provide clinical *** Whole exome gene sequencing and Sanger sequencing were performed on the peripheral blood of patients with PJS treated at the Reproductive and Genetic Hospital of *** was employed to predict the protein structure,conservation,and pathogenicity of the two missense variation sites in patients with ***,plasmids were constructed and transfected into HeLa cells to observe cell *** differences in signal pathway expression between the variant group and the wild-type group were compared using western blot and *** analysis was performed using one-way analysis of variance.PG(***297Gly)and c.733C>T(***245Phe)]in 9 unrelated PJS families who were seeking reproductive *** two missense VUS were located in the catalytic domain of serine/threonine kinase,which is a key structure of the liver kinase B1(LKB1)*** vitro experiments showed that the phosphorylation levels of adenosine monophosphate-activated protein kinase(AMPK)at Thr172 and LKB1 at Ser428 were significantly higher in transfected variation-type cells than in wild-type *** addition,the two missense STK11 variants promoted the proliferation of HeLa *** immunohistochemical analysis showed that phosphorylated-AMPK(Thr172)expression was significantly lower in gastric,colonic,and uterine polyps from PJS patients with misse

关键词： Missense STK11 Peutz-Jeghers syndrome Rare disease Genetic counseling Assisted reproductive technique

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Defects in phospholipase C zeta cause polyspermy and low fertilization after conventional IVF:not just ICSI failure

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Asian Journal of Andrology 2024年第2期26卷 175-182页

作者： Jian-Fang Che Hui-Xia Wu Si-Cong Zeng Yue-Ren Wu Jing Dai De-Hua Cheng Fei Gong guang-xiu lu Ge Lin Can Dai School of Medicine Hunan Normal UniversityChangsha 410013China Reproductive and Genetic Hospital of CITIC-Xiangya Changsha 410008China Clinical Research Center for Reproduction and Genetics in Hunan Province Changsha 410078China National Engineering and Research Center of Human Stem Cell Changsha 410205China

Phospholipase C zeta(PLC)is a key sperm-borne oocyte-activating factor that triggers Ca^(2+)oscillations and the subsequent block to polyspermy following gamete *** in PLCZ1,the gene encoding PLCζ,cause male infertility and intracytoplasmic sperm injection(ICSI)fertilization failure;and PLCζ expression and localization patterns are significantly correlated with ICSI fertilization rate(FR).However,in conventional in vitro fertilization(cIVF),whether and how sperm PLCζ affects fertilization remain ***,we identified one previously reported and two novel PLCZ1 mutations associated with polyspermy in vitro that are characterized by excessive sperm-zona binding and a delay in pronuclei(PN)*** staining and oocyte activation testing revealed that virtually all spermatozoa from patients lacked functional PLCζ and were thus unable to evoke Ca^(2+) *** with an artificial oocyte activation treatment successfully rescued the polyspermic phenotype and resulted in a live ***,we analyzed PLCζ in an additional 58 males after cIVF treatment in the Reproductive and Genetic Hospital of CiTiC-Xiangya(Changsha,China)between February 2019 and January *** found that the proportion of spermatozoa that expressed PLCζ was positively correlated with both 2PN rate and total *** optimal cutoff value below which males were likely to experience low FR(total FR≤30%)after clVF was 56.7%for the proportion of spermatozoa expressing *** study expands the mutation and the phenotypic spectrum of PLCZ1 and further suggests that PLCζ constitutes a promising biomarker for identifying low FRs cases in cIVF due to sperm-related oocyte activation deficiency and that sperm PLCζ analysis may benefit the widermale population and not onlymen with IcsI failure.

关键词： conventional IVF gene variants PLCζ polyspermy

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A newly discovered mutation in PICK1 in a human with globozoospermia

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Asian Journal of Andrology 2010年第4期12卷 556-560页

作者： Gang Liu Qiu-Wen Shi guang-xiu lu Institute of Reproduction and Stem Cell Engineering Central South University Changsha 410078 China

Globozoospermia is a human infertility syndrome caused by spermatogenesis defects （OMIM 102530）. Acrosome plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Thus, malformation of the acrosome is the most prominent feature seen in globozoospermia. Disruption of several mouse genes, including Gopc （Golgi-associated PDZ and coiled-coil motif containing protein）, Hrb （HIV-I Rev binding protein）, Csnk2α2 （casein kinase 2, α prime polypeptide） and Pick1 （protein interacting with C kinase 1）, results in a phenotype similar to globozoospermia in humans, which suggests their potential role in the disease. However, no mutations with a clear link to globozoospermia have been identified in these genes in humans. In this study, we screened the candidate genes men- tioned above in three globozoospermia type I patients and discovered a homozygous missense mutation （G198A） in exon 13 of the PICK1 gene in a Chinese family. The family member affected by this homozygous missense mutation showed a complete lack of acrosome. Using the candidate gene screening strategy, our study is the first to identify an autosomal recessive genetic mutation in PICK1 that was responsible for globozoospermia in humans.

关键词： acrosome globozoospermia PICK1

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Identification of a Novel Gene SRG4 Expressed at Specific Stages of Mouse Spermatogenesis

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Acta Biochimica et Biophysica Sinica 2004年第5期36卷 351-359页

作者： Xiao-Wei XING, lu-Yun LI, Gang LIU, Jun-Jiang FU, Xiao-Jun TAN, and guang-xiu lu* Human Reproduction and Stem Cell Engineering Institute, Central South University, Changsha 410078, China Human Reproduction and Stem Cell Engineering Institute Central South University

Spermatogenesis is a complex process. Two spermatocytes expression sequence tags (ESTs) BG101130 and BG100990 were found. Their putative amino acid sequences have high homology with rat Spag4 (sperm antigen 4). By electrical hybridization, a novel cDNA encoding polypeptide of 348 amino acid residues was identified from a mouse testis cDNA library. The new gene was designated as SRG4 (Spermatogenesis related gene 4) (GenBank accession No. AY307077). Results of Northern blot and RT- PCR revealed that SRG4 expressed specifically in mouse testis. Changes of SRG4 expression in mouse dif- ferent development stages were observed by RT-PCR. The SRG4 mRNA was hardly detected in 2 weeks postpartum, and expressed abundantly from 3 weeks later, reaching top lever at 4–5 weeks, while slightly down in aging mouse testis. Results of in situ hybridization showed that SRG4 gene expressed abundantly in spermatocytes, round spermatids. This indicated SRG4 gene may play an important role in mouse meiotic divisions of spermatocytes.

关键词： gene cloning testis tissues expression pattern in situ hybridization spermatogenesis

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Effect of intestinal ischemia-reperfusion injury on protein levels of leptin and orexin-A in peripheral blood and central secretory tissues

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World Journal of Gastroenterology 2005年第7期11卷 1000-1004页

作者： JiLin guang-TaoYan xiu-HuaHao lu-HuanWang KaiZhang HuiXue ResearchLaboratoryofBiochemistryBasicMedicalInstitute GeneralHospitalofPLA28FuxingRoadBeijing100853China

AIM: To explore the effect of intestinal ischemia-reperfusion injury on protein levels of leptin and orexin-A in peripheral blood and their central secretory tissues and to find out the role leptin and orexin-A play in acute inflammatory ***: An intestinal ischemia-reperfusion (I/R)injury model of rats was established and rats were divided randomly into six groups: sham-operation group, 60 min ischemia/30 min reperfusion group (I60'R30'), I60'R90',I60'R150', I60'R240' and I60'R360', 9 rats each *** highly-sensitive radioimmunoassays for leptin and orexin-A were established and used to check the change of their concentrations in peripheral blood and central secretory tissues before and after intestinal I/R ***: Compared with the serum leptin level before injury, it decreased significantly in I60'R30' group and increased significantly in I60'R360' group; compared to sham-operation group after injury, serum leptin level increased significantly in I60'R360' group; compared to sham-operation group after injury, adipose leptin levels decreased significantly in I60'R30' and I60'R90' groups,while increased significantly in I60'R360' group. There was no significant difference between the expression levels of orexin-A before and after I/R ***: Leptin has a time-dependent response and orexin-A has a delayed response to acute inflammatory stimuli such as intestinal I/R injury and they may participate in metabolic disorders in injury as inflammatory cytokines.

关键词： Ischemia-reperfusion Intestinal Leptin OrexinA Radioimmunoassay Inflammation Acute Cytokine

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Phenotypic and molecular characteristics of androgen insensitivity syndrome patients

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Asian Journal of Andrology 2018年第5期20卷 473-478页

作者： Shi-Min Yuan Ya-Nan Zhang Juan Du Wen Li Chao-Feng Tu Lan-Lan Meng Ge Lin guang-xiu lu Yue-Qiu Tan Reproductive and Genetic Hospital of Citic-Xiangya Changsha 410078 China Maternal and Child Health Hospital of Hunan Province Changsha 410078 China Institute of Reproduction and Stem Cell Engineering Central South University Changsha 410078 China

Androgen insensitivity syndrome （AIS）, an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor （AR） gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel （c.2112 C〉G[***4R], c.2290T〉A[p.Y764N], c.2626C〉T[p.Q876X], c.933dupC[p.K313Qfs＊28], and c.1067delC[p.A356Efs＊123]）; the other five were previously reported （c.1789G〉A[p.A597T], c.2566C〉T[p.R856C], c.2668G〉A[p.V890M], c.2679C〉T[p.P893L], and c.1605C〉G[p.Y535X]）. Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% （3/10） of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.

关键词： androgen insensitivity syndrome androgen receptor disorder of sex development mutation

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Sperm flagellar 2(SPEF2)is essential for sperm flagellar assembly in humans

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Asian Journal of Andrology 2022年第4期24卷 359-366页

作者： Dong-Yan Li Xiao-Xuan Yang Chao-Feng Tu Wei-Li Wang Lan-Lan Meng guang-xiu lu Yue-Qiu Tan Qian-Jun Zhang Juan Du Institute of Reproductive and Stem Cell Engineering School of Basic Medical ScienceCentral South UniversityChangsha 410078China Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC-XiangyaChangsha 410078China

Spermiogenesis is a complex and tightly regulated process,consisting of acrosomal biogenesis,condensation of chromatin,flagellar assembly,and disposal of extra *** studies have reported that sperm flagellar 2(SPEF2)deficiency causes severe asthenoteratozoospermia owing to spermiogenesis failure,but the underlying molecular mechanism in humans remains ***,we performed proteomic analysis on spermatozoa from three SPEF2 mutant patients to study the functional role of SPEF2 during sperm tail development.A total of 1262 differentially expressed proteins were detected,including 486 upregulated and 776 *** constructed heat map of the differentially expressed proteins showed similar *** these,the expression of proteins related to flagellar assembly,including SPEF2,sperm associated antigen 6(SPAG6),dynein light chain tctex-type 1(DYNLT1),radial spoke head component 1(RSPH1),translocase of outer mitochondrial membrane 20(TOM20),EF-hand domain containing 1(EFHC1),meiosis-specific nuclear structural 1(MNS1)and intraflagellar transport 20(IFT20),was verified by western *** clustering analysis indicated that these differentially expressed proteins were specifically enriched for terms such as spermatid development and flagellar ***,we showed that SPEF2 interacts with radial spoke head component 9(RSPH9)and IFT20 in vitro,which are well-studied components of radial spokes or intra-flagellar transport and are essential for flagellar *** results provide a rich resource for further investigation into the molecular mechanism underlying the role that SPEF2 plays in sperm tail development and could provide a theoretical basis for gene therapy in SPEF2 mutant patients in the future.

关键词： SPEF2 flagellar assembly male infertility protein interaction proteomics

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A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome

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Asian Journal of Andrology 2018年第3期20卷 308-310页

作者： Shi-Min Yuan Huan Huang Chao-Feng Tu Juan Du Da-Bao Xu Ge Lin guang-xiu lu Yue-Qiu Tan Institute of Reproduction and Stem Cell Engineering Central South University Changsha 410078 China Reproductive and Genetic Hospital of Citic-Xiangya Changsha 410078 China Department of Gynecology The Third Xiangya Hospital Central South University Changshe 410013 China

Dear Editor, Androgen insensitivity syndrome （AIS） is a common 46, XY disorder of sex development resulting from androgen resistance. AIS can be subdivided into three phenotypes according to the degree of external genital defects： complete AIS （CAIS）, with typical female external genitalia; partial AIS, with predominantly male or ambiguous external genitalia; and mild AIS, with typical male external genitalia. CAIS is the classical manifestation of AIS. Individuals affected by CAIS typically exhibit inguinal swellings during infancy or primary amenorrhea during puberty） AIS is usually caused by mutations in the androgen receptor （AR） gene.

关键词： SITE

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Surface iodine and pyrenyl-graphdiyne co-modified Bi catalysts for highly efficient CO_(2) electroreduction in acidic electrolyte

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Nano Research 2024年第4期17卷 2381-2387页

作者： Min Zhang Juan Wang Xin Rong xiu-Li lu Tong-Bu lu MOE International Joint Laboratory of Materials Microstructure Institute for New Energy Materials and Low Carbon TechnologiesSchool of Materials Science and EngineeringTianjin University of TechnologyTianjin 300384China

CO_(2) electroreduction to formic acid/formate would contribute to alleviating the energy and climate *** work reports a Bi-based catalyst derived from the in-situ electroreduction of Bi_(2)O_(2)CO_(3) modified with iodine and pyrenyl-graphdiyne(PGDY)on the surface for efficient electroreduction of CO_(2) in acidic electrolyte,with a high partial current density of 98.71 mA·cm^(-2) and high Faradaic efficiency(FE)>90%over the potential range from^(-1).2 to-1.5 V *** hydrogen electrode(RHE),as well as the long-term operational stability over 240 h without degradation in H-type *** results and density function theory calculations show that the synergistic effect of surface iodine and PGDY is responsible for this active and extremely stable process of CO_(2) electroreduction via lowering the energy barriers for formation of*OCHO intermediate,suppressing the competitive HER by enhancing the concentration of both K+and CO_(2) at reaction interface,as well as preventing the dissolution and re-deposition of active Bi atoms on surface during catalytic *** work provides new insight into designing highly active and stable electrocatalysts for CO_(2) reduction.

关键词： CO_(2) reduction electrocatalysis Bi-based catalysts acidic electrolyte

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Numerical Study on the Aerodynamic and Fluid−Structure Interaction of An NREL-5MW Wind Turbine

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China Ocean Engineering 2024年第3期38卷 363-378页

作者： ZHAO Mi YU Wan-li WANG Pi-guang QU Yang DU xiu-li Key Laboratory of Urban Security and Disaster Engineering of Ministry of Education Beijing University of TechnologyBeijing 100124China State Key Laboratory of Bridge Engineering Safety and Resilience Beijing University of TechnologyBeijing 100124China

A 5-MW wind turbine has been modeled and analyzed for fluid-structure interaction and aerodynamic *** this study, a full-scale model of a 5-MW wind turbine is first developed based on a computational fluid dynamics(CFD) approach, in which the unsteady, noncompressible Reynolds Averaged Navier-Stokes(RANS) method is used. The main focus of the study is to analyze the tower shadow effect on the aerodynamic performance of the wind turbine under different inlet flow conditions. Subsequently, the finite element model is established by considering fluid/structure interactions to study the structural stress, displacement, strain distributions and flow field information of the structure under the uniform wind speed. Finally, the fluid-structure interaction model is established by considering turbulent wind and the tower shadow effect. The variation rules of the dynamic response of the one-way and two-way fluid-structure interaction(FSI) models under different wind speeds are analyzed, and the numerical calculation results are compared with those of the centralized mass model. The results show that the tower shadow effect and structural deformation are the main factors affecting the aerodynamic load fluctuation of the wind turbine, which in turn affects the aerodynamic performance and structural stability of the blades. The structural dynamic response of the coupled model shows significant similarity, while the structural displacement response of the former exhibits less fluctuation compared with the conventional centralized mass model. The one-way fluid-structure interaction(FSI)model shows a higher frequency of stress-strain and displacement oscillations on the blade compared with the two-way FSI model.

关键词： computational fluid dynamics methods(CFD) tower shadow effect aerodynamic performance fluidstructure interaction space flow field

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