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Asian Journal of Andrology 2024年第2期26卷 183-188页

作者： Huan Jiang Chu-Jie Huang department of reproductive endocrinology Longgang District Maternity&Child Healthcare Hospital of Shenzhen City(Longgang Maternity and Child Institute of Shantou University Medical College)Shenzhen 518172China Institute of reproductive Immunology College of Life Science and TechnologyJinan UniversityGuangzhou 510632China

Aberrant sperm protamination is linked to sperm dysmorphology and nuclear chromatin ***,its effects on sperm cytoplasmic maturation remain largely *** relationships of protamines,sperm morphology,DNA damage,and cytoplasmic remodeling were illustrated in this study to provide fresh perspectives on the mechanisms of male infertility.A total of 205 infertile males were allocated into 5 groups according to the percentage of spermatozoa exhibiting abnormal morphology within their *** concentration,motility,abnormal sperm morphology,cytoplasmic droplets(CDs),and excess residual cytoplasm(ERC)were analyzed according to the World Health Organization manual(2010).Sperm nuclear vacuoles(NVs)were determined by propidium iodide(PI)*** protamine expressions(P1 and P2)were detected by western *** damage was measured by acridine orange test(AOT)to calculate the proportion of sperm with single-strand DNA breaks(SSBs).Our data showed that sperm concentration and motility in infertile males significantly decreased with the severity of abnormal sperm morphology(both P<0.01).P1 level,P1/P2 ratio,and SSB rate increased with the severity of sperm dysmorphology,whilst the P2 level decreased(all P

关键词： abnormal sperm morphology excess residual cytoplasm male infertility protamines sperm DNA damage sperm nuclear vacuoles

Effects and mechanisms of acupuncture on women related health

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Frontiers of medicine 2024年第1期18卷 46-67页

作者： Huichao Qin Jiaxing Feng Xiaoke Wu department of reproductive medicine Heilongjiang Provincial HospitalHarbin Institute of TechnologyHarbin150036China department of Obstetrics and Gynecology First Affiliated HospitalHeilongjiang University of Chinese MedicineHarbin150040China

Globally,public health interventions have resulted in a 30-year increase in women’s life ***,women’s health has not increased when socioeconomic status is ***’s health has become a major public health concern,for those women from developing countries are still struggling with infectious and labor-related diseases,and their counterparts in developed countries are suffering from physical and psychological *** recent years,complementary and alternative medicine has attracted wide attentions with regards to maintaining women’s ***,a crucial component of traditional Chinese medicine,has been used to treat many obstetric and gynecological diseases for thousands of years due to its analgesic and anti-inflammatory effects and its effects on stimulating the sympathetic/parasympathetic nervous *** fully understand the mechanism through which acupuncture exerts its effects in these diseases would significantly extend the list of available interventions and would allow for more reasonable advice to be given to general ***,by searching PubMed and CNKI regarding the use of acupuncture in treating obstetric and gynecological diseases,we aimed to summarize the proven evidence of using acupuncture in maintaining women’s health by considering both its effectiveness and the underlying mechanisms behind its effects.

关键词： acupuncture women health clinical efficacy mechanism

Deleterious variants in RNF111 impair female fertility and induce premature ovarian insufficiency in humans and mice

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Science China(Life Sciences) 2024年第7期67卷 1325-1337页

作者： Chengcheng Song Yingying Qin Yan Li Bingyi Yang Ting Guo Wenqing Ma Dian Xu Keyan Xu Fangfang Fu Li Jin Yanhua Wu Shuyan Tang Xiaojun Chen Feng Zhang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic EngineeringInstitute of Medical Genetics and GenomicsFudan UniversityShanghai 200011China Human Phenome Institute Zhangjiang Fudan International Innovation CenterFudan UniversityShanghai 201203China Center for reproductive medicine Cheeloo College of MedicineShandong UniversityJinan 250021China State Key Laboratory of reproductive medicine and Offspring Health Key Laboratory of Reproductive Endocrinology of Ministry of EducationNational Research Center for Assisted Reproductive Technology and Reproductive GeneticsShandong Key Laboratory of Reproductive MedicineShandong Provincial Clinical Research Center for Reproductive HealthShandong UniversityJinan 250021China department of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China National Demonstration Center for Experimental Biology Education School of Life SciencesFudan UniversityShanghai 200433China department of Gynecology the Tenth People’s Hospital of Tongji UniversityShanghai 200072China Soong Ching Ling Institute of Maternity and Child Health International Peace Maternity and Child Health Hospital of China Welfare InstituteShanghai 200030China

Premature ovarian insufficiency(POI)is a heterogeneous female disorder characterized by the loss of ovarian function before the age of *** represents a significant detriment to female ***,the known POI-causative genes currently account for only a fraction of *** elucidate the genetic factors underlying POI,we conducted whole-exome sequencing on a family with three fertile POI patients and identified a deleterious missense variant in *** a subsequent replication study involving 1,030 POI patients,this variant was not only confirmed but also accompanied by the discovery of three additional predicted deleterious RNF111 *** variants collectively account for eight cases,representing 0.78%of the study cohort.A further study involving 500 patients with diminished ovarian reserve also identified two additional RNF111 ***,RNF111 encodes an E3 ubiquitin ligase with a regulatory role in the TGF-β/BMP signaling *** analysis revealed that RNF111/RNF111 is predominantly expressed in the oocytes of mice,monkeys,and *** further investigate the functional implications of RNF111 variants,we generated two mouse models:one with a heterozygous missense mutation(Rnf111+/M)and another with a heterozygous null mutation(Rnf111^(+/-)).Both mouse models exhibited impaired female fertility,characterized by reduced litter sizes and small ovarian ***,RNA-seq and quantitative proteomics analysis unveiled that Rnf111 haploinsufficiency led to dysregulation in female gonad development and negative regulation of the BMP signaling pathway within mouse *** conclusion,our findings strongly suggest that monoallelic deleterious variants in RNF111 can impair female fertility and induce POI in both humans and mice.

关键词： POI RNF111 female fertility ovarian reserve

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GametesOmics:A Comprehensive Multi-omics Database for Exploring the Gametogenesis in Humans and Mice

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Genomics, Proteomics & Bioinformatics 2024年第1期22卷 121-130页

作者： Jianting An Jing Wang Siming Kong Shi Song Wei Chen Peng Yuan Qilong He Yidong Chen Ye Li Yi Yang Wei Wang Rong Li Liying Yan Zhiqiang Yan Jie Qiao State Key Laboratory of Female Fertility Promotion Center for Reproductive MedicineDepartment of Obstetrics and GynecologyPeking University Third HospitalBeijing 100191China National Clinical Research Center for Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China Key Laboratory of Assisted Reproduction Ministry of EducationPeking UniversityBeijing 100191China Beijing Key Laboratory of reproductive endocrinology and Assisted reproductive Technology Beijing 100191China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100871China Beijing Advanced Innovation Center for Genomics Beijing 100191China

Gametogenesis plays an important role in the reproduction and evolution of *** transcriptomic and epigenetic alterations in this process can influence the reproductive capacity,fertilization,and embryonic *** rapidly increasing single-cell studies have provided valuable multi-omics ***,data from different layers and sequencing platforms have not been uniformed and integrated,which greatly limits their use for exploring the molecular mechanisms that underlie oogenesis and ***,we develop GametesOmics,a comprehensive database that integrates the data of gene expression,DNA methylation,and chromatin accessibility during oogenesis and spermatogenesis in humans and *** provides a user-friendly website and various tools,including Search and Advanced Search for querying the expression and epigenetic modification(s)of each gene;Tools with Differentially expressed gene(DEG)analysis for identifying DEGs,Correlation analysis for demonstrating the genetic and epigenetic changes,Visualization for displaying single-cell clusters and screening marker genes as well as master transcription factors(TFs),and MethylView for studying the genomic distribution of epigenetic *** also provides Genome Browser and Ortholog for tracking and comparing gene expression,DNA methylation,and chromatin accessibility between humans and *** offers a comprehensive resource for biologists and clinicians to decipher the cell fate transition in germ cell development,and can be accessed at http://***/.

关键词： Gametogenesis Oogenesis Spermatogenesis Transcriptomics Epigenomics

Association between Exposure of Rare Earth Elements and Outcomes of In Vitro Fertilization-Embryo Transfer in Beijing

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Biomedical and Environmental Sciences 2024年第8期37卷 876-886页

作者： Yutong Wang Jing Li Shirong Xu Shengli Lin Zhenchen Hou Linlin Wang Yali Huang Yue Sun Wei Guo Lailai Yan Ying Wang Chan Tian State Key Laboratory of Female Fertility Promotion Center for Reproductive MedicineDepartment of Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China department of Medical Genetics Peking UniversityBeijing 100191China National Clinical Research Center for Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China Key Laboratory of Assisted Reproduction(Peking University) Ministry of EducationBeijing 100191China Beijing Key Laboratory of reproductive endocrinology and Assisted reproductive Technology Beijing 100191China Central Laboratory of School of Public Health Peking UniversityBeijing 100191China School of Basic Medical Sciences Peking UniversityBeijing 100191China

Objective The study aimed to investigate the impact of rare earth elements(REEs)exposure on pregnancy outcomes of in vitro fertilization-embryo transfer(IVF-ET)by analyzing samples from *** A total of 141 couples were *** and follicular fluid from the wives and semen plasma from the husbands,were analyzed for REEs using inductively coupled plasma mass spectrometry(ICP-MS).Spearman's correlation coefficients and the Mann–Whitney U test were used to assess correlations and compare REE concentrations among three types of samples,*** models were utilized to estimate the individual REE effect on IVF-ET outcomes,while BKMR and WQS models explored the mixture of REE interaction effects on IVF-ET *** Higher La concentration in semen(median 0.089 ng/mL,P=0.03)was associated with a lower fertilization ***,this effect was not observed after artificial selection intervention through intracytoplasmic sperm injection(ICSI)(P=0.27).In semen,the REEs mixture did not exhibit any significant association with clinical *** Our study revealed a potential association between high La exposure in semen and a decline in fertilization rate,but not clinical pregnancy *** is the first to report REEs concentrations in follicular fluid with La,Ce,Pr,and Nd found at significantly lower concentrations than in serum,suggesting that these four REEs may not accumulate in the female reproductive ***,at the current exposure levels,mixed REEs exposure did not exhibit reproductive toxicity.

关键词： Rare earth elements In vitro fertilization Pregnancy outcomes Mixture exposure analysis

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Unraveling the complexity of polycystic ovary syndrome with animal models

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Journal of Genetics and Genomics 2024年第2期51卷 144-158页

作者： Huanju Liu Mixue Tu Zhiyong Yin Dan Zhang Jun Ma Feng He Center for Genetic medicine The Fourth Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310058China Key Laboratory of Women's reproductive Health of Zhejiang Province and department of reproductive endocrinology Women's HospitalZhejiang University School of MedicineHangzhouZhejiang 310006China Zhejiang Provincial Clinical Research Center for Child Health Women's HospitalZhejiang University School of MedicineHangzhouZhejiang 310006China Clinical Research Center on Birth Defect Prevention and Intervention of Zhejiang Province HangzhouZhejiang 310006China Institute of Genetics Zhejiang University International School of MedicineHangzhouZhejiang 310058China Zhejiang Provincial Key Laboratory of Genetic and Developmental Disorder HangzhouZhejiang 310058China

Polycystic ovary syndrome (PCOS) is a highly familial and heritable endocrine disorder. Over half of the daughters born to women with PCOS may eventually develop their own PCOS-related symptoms. Progress in the treatment of PCOS is currently hindered by the complexity of its clinical manifestations and incomplete knowledge of its etiopathogenesis. Various animal models, including experimentally induced, naturally occurring, and spontaneously arising ones, have been established to emulate a wide range of phenotypical and pathological traits of human PCOS. These studies have led to a paradigm shift in understanding the genetic, developmental, and evolutionary origins of this disorder. Furthermore, emerging evidence suggests that animal models are useful in evaluating state-of-the-art drugs and treatments for PCOS. This review aims to provide a comprehensive summary of recent studies of PCOS in animal models, highlighting the power of these disease models in understanding the biology of PCOS and aiding high-throughput approaches.

关键词： Polycystic ovary syndrome Animal model Genetc manipulation Developmnental progtanning Drug screening

Sex differences in human pre-gastrulation embryos

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Science China Life Sciences 2024年

作者： Yongjie Lu Meng Qin Xintong Qi Ming Yang Fan Zhai Jiaqi Zhang Zhiqiang Yan Liying Yan Jie Qiao Peng Yuan State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital) Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education Beijing Key Laboratory of reproductive endocrinology and Assisted reproductive Technology Academy for Advanced Interdisciplinary Studies Peking University

Human fetuses exhibit notable sex differences in growth rate and response to the intrauterine environment, yet their origins and underlying mechanisms remain uncertain. Here, we conduct a detailed investigation of sex differences in human pre-gastrulation embryos. The lower methylation and incomplete inactivation of the X chromosome in females, as well as the sex-specific cell-cell communication patterns,contribute to sex-differential transcription. Male trophectoderm is more inclined toward syncytiotrophoblast differentiation and exhibits a stronger hormone secretion capacity, while female trophectoderm tends to retain cytotrophoblast program with stronger mitochondrial function as well as higher vasculogenesis and immunotolerance signals. Male primitive endoderm initiates the anterior visceral endoderm transcriptional program earlier than females. The cell cycle activities of the epiblast and primitive endoderm are higher in males compared to females, while the situation is opposite in the trophectoderm. In conclusion, our study provides in-depth insights into the sex differences in human pre-gastrulation embryos and contributes to unraveling the origins of the sex differences in human fetal development.

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A novel preimplantation genetic testing strategy for a subtelomeric genetic disorder:A case study

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Genes & Diseases 2024年第4期11卷 13-15页

作者： Songchang Chen Li Wanng Luting Chen Weihui Shi Junyu Zhang Yuting Hu Yinyu Wang Li Jin Jianzhong Sheng Feng Zhang Yanting Wu Hefeng Huang Chenming Xu Obstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200090China The International Peace Maternity and Child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China Research Units of Embryo Original Diseases Chinese Academy of Medical SciencesShanghai 200030China Key Laboratory of reproductive Genetics(Ministry of Education) Department of Reproductive EndocrinologyWomen's HospitalZhejiang University School of MedicineHangzhouZhejiang 310058China Shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China Shanghai First Maternity and Infant Hospital Tongji University School of MedicineShanghai 200030China

Preimplantation genetic testing(PGT)is a precise and effective technique for detecting inherited pathogenic mutations to prevent birth ***,there are few reports on PGT for pseudo-autosomal genetic diseases.

关键词： implantation testing precise

Innovative insights into extrachromosomal circular DNAs in gynecologic tumors and reproduction

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Protein & Cell 2024年第1期15卷 6-20页

作者： Ning Wu Ling Wei Zhipeng Zhu Qiang Liu Kailong Li Fengbiao Mao Jie Qiao Xiaolu Zhao State Key Laboratory of Female Fertility Promotion Center for Reproductive MedicineDepartment of Obstetrics and GynecologyCenter for Reproductive MedicinePeking University Third HospitalBeijing 100191China National Clinical Research Center for Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China Key Laboratory of Assisted Reproduction(Peking University) Ministry of EducationBeijing 100191China Beijing Key Laboratory of reproductive endocrinology and Assisted reproductive Technology Beijing 100191China Institute of Medical Innovation and Research Peking University Third HospitalBeijing 100191China Cancer Center Peking University Third HospitalBeijing 100191China department of Biochemistry and Biophysics Beijing Key Laboratory of Protein Posttranslational Modifications and Cell FunctionSchool of Basic Medical SciencesPeking University Health Science CenterBeijing 100191China Beijing Advanced Innovation Center for Genomics Beijing 100191China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100191China

Originating but free from chromosomal DNA,extrachromosomal circular DNAs(eccDNAs)are organized in circular form and have long been found in unicellular and multicellular *** biogenesis and function are poorly understood as they are characterized by sequence homology with linear DNA,for which few detection methods are *** advances in high-throughput sequencing technologies have revealed that eccDNAs play crucial roles in tumor formation,evolution,and drug resistance as well as aging,genomic diversity,and other biological processes,bringing it back to the research *** mechanisms of eccDNA formation have been proposed,including the breakage-fusion-bridge(BFB)and translocation-deletion-amplification *** tumors and disorders of embryonic and fetal development are major threats to human reproductive *** roles of eccDNAs in these pathological processes have been partially elucidated since the first discovery of eccDNA in pig sperm and the double minutes in ovarian cancer *** present review summarized the research history,biogenesis,and currently available detection and analytical methods for eccDNAs and clarified their functions in gynecologic tumors and *** also proposed the application of eccDNAs as drug targets and liquid biopsy markers for prenatal diagnosis and the early detection,prognosis,and treatment of gynecologic *** review lays theoretical foundations for future investigations into the complex regulatory networks of eccDNAs in vital physiological and pathological processes.

关键词： extrachromosomal circular DNAs gynecologic tumors reproduction liquid biopsy non-invasive prena-tal testing

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Rare uterine serosal pregnancy after in vitro fertilization in a woman with bilateral salpingectomy

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Clinical Research Communications 2024年第3期7卷 38-42页

作者： Shu-Yi Dong Shu-Feng Liu Jun Tan Ping-Ping Sun The reproductive endocrinology department of Gaomi Maternity and Child Care Hospital Weifang 261000China. The reproductive medicine Centre of Weifang People’s Hospital Weifang 261000China.

Objective:To improve the understanding of ectopic pregnancy after bilateral salpingectomy through case analysis and literature ***:A case of uterine serosal pregnancy after in vitro fertilization and embryo transfer(IVF-ET)in a woman with bilateral salpingectomy was reported in detail and summarized,and relevant literatures searched in Pubmed were ***:The patient had a sudden abdominal pain 18 days after *** showed no pregnancy sac in the intrauterine cavity and bilateral adnexal areas,but there was a large amount of fluid in the Pouch of Douglas,which was an indication for surgical *** the operation,the pregnancy tissue was found on the uterine serosal and cleared in *** the patient recovered well after *** of the literatures showed that most of ectopic pregnancies after bilateral salpingectomy were treated surgically and had a good ***:Ectopic pregnancy after bilateral salpingectomy is extremely rare and should be early judged by the patients’*** treatment timely can achieve good outcome.

关键词： IVF-ET uterine serosal pregnancy ectopic pregnancy bilateral salpingectomy