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Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis,manchette structure and sperm tail assembly in humans and mice

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Science China Life Sciences 2025年第03期 777-792页

作者： Yiling Zhou Chaofeng Tu Charles Coutton Jianan Tang Shixiong Tian Shuyan Tang Guillaume Martinez Dapeng Zhou Célia Tebbakh Jiaxiong Wang Raoudha Zouari Xuehai Zhou Selima Fourati Ben Mustapha Xuemei Wang Bangguo Wu Xinyan Geng Shuang Liu Li Jin Huijuan Shi Yue-Qiu Tan Pierre F.Ray Lingbo Wang Xiaoyu Yang Feng Zhang Chunyu Liu Obstetrics and Gynecology Hospital State Key Laboratory of Genetic Engineering Institute of Medical Genetics and Genomics Fudan University Institute of Reproductive and stem cell engineering NHC Key Laboratory of Human Stem Cell and Reproductive Engineering School of Basic Medical Science Central South University Clinical Research Center for reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC-XIANGYA Université Grenoble Alpes CNRS UMR 5309 INSERM U1209 Institute for Advanced Biosciences (IAB) Site Santé–Allée des Alpes CHU Grenoble Alpes H?pital Couple-Enfant UM de Génétique Chromosomique Shanghai-MOST Key Laboratory of Health and Disease Genomics NHC Key Lab of Reproduction Regulation Shanghai Institute for Biomedical and Pharmaceutical Technologies School of Pharmacy Fudan University Shanghai Key Laboratory of Metabolic Remodeling and Health Institute of Metabolism and Integrative Biology Fudan University State Key Laboratory of Reproductive Medicine The Affiliated Suzhou Hospital of Nanjing Medical University Suzhou Municipal Hospital Polyclinique les Jasmins Centre d’Aide Médicale à la Procréation Centre Urbain Nord Key Laboratory of Systems Health Science of Zhejiang Province School of Life Science Hangzhou Institute for Advanced Study University of Chinese Academy of Sciences Soong Ching Ling Institute of Maternity and Child Health International Peace Maternity and Child Health Hospital Shanghai Jiao Tong University School of Medicine CHU Grenoble Alpes UM GI-DPI State Key Laboratory of Reproductive Medicine and offspring health Clinical Center for Reproductive Medicine The First Affiliated Hospital of Nanjing Medical University Shanghai Key Laboratory of Embryo Original Diseases

Asthenoteratozoospermia is a common cause of male infertility. To further define the genetic causes underlying asthenoteratozoospermia, we performed whole-exome sequencing in a cohort of Han Chinese men with asthenoteratozoospermia. Homozygous deleterious variants of MYCBPAP were first identified in two unrelated Chinese cases. Replication analyses in a French cohort revealed an additional asthenoteratozoospermia-affected case harboring a homozygous nonsense variant in MYCBPAP. All of the identified MYCBPAP variants were absent or extremely rare in the public human genome databases. Further functional assays indicated remarkably reduced abundance of MYCBPAP in the spermatozoa from MYCBPAP-associated cases. Subsequently, we generated a Mycbpap knockout(Mycbpap-/-) mouse model, which also exhibited male infertility with reduced sperm motility and abnormal morphologies in sperm heads and flagella. Further investigations demonstrated that Mycbpap-/-male mice presented disrupted acrosome biogenesis and abnormally elongated manchette during ***, proteomic analyses indicated that the proteins related to spermatogenesis, acrosomal and flagellar functions were significantly down-regulated in the testes from Mycbpap-/-male mice. Endogenous immunoprecipitation combined with mass spectrometry revealed interactions of MYCBPAP with a ribosome elimination related protein ARMC3 and central apparatus proteins including CFAP65 and ***, MYCBPAP-associated male infertility in humans and mice could be partially overcome by using intracytoplasmic sperm injections. Collectively, these findings illustrate the essential role of MYCBPAP in normal spermatogenesis and homozygous deleterious variants in MYCBPAP can be considered as a genetic diagnostic indicator for infertile men with asthenoteratozoospermia. Our study will provide effective guidance for genetic counseling, clinical diagnosis and assisted reproduction treatments of MYCBPAP-associated male

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FOXP4 promotes proliferation of human spermatogonial stem cells

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Asian Journal of Andrology 2023年第3期25卷 322-330页

作者： Shu-Wei Luo Le Tang Dai Zhou Hao Bo Li-Qing Fan Reproductive Medicine Center Hunan Provincial Maternal and Child Health Care HospitalChangsha 410000China NHC Key Laboratory of Birth Defect for Research and Prevention Hunan Provincial Maternal and Child Health Care HospitalChangsha 410000China Institute of reproduction and stem cell engineering School of Basic Medicine ScienceCentral South UniversityChangsha 410000China Reproductive and Genetic Hospital of CITIC-Xiangya Changsha 410000China

Continuous self-renewal and differentiation of spermatogonial stem cells(SSCs)is vital for maintenance of adult *** several spermatogonial stem cell regulators have been extensively investigated in rodents,regulatory mechanisms of human SSC self-renewal and differentiation have not been fully *** analyzed single-cell sequencing data from the human testis and found that forkhead box P4(FOXP4)expression gradually increased with development of *** analysis of its expression patterns in human testicular tissues revealed that FOXP4 specifically marks a subset of spermatogonia with stem cell *** inactivation of FOXP4 in human SSC lines suppressed SSC proliferation and significantly activated ***4 expressions were markedly suppressed in tissues with dysregulated *** findings imply that FOXP4 is involved in human SSC proliferation,which will help elucidate on the mechanisms controlling the fate decisions in human SSCs.

关键词： forkhead box P4 human proliferation spermatogonial stem cells testis

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Comparison of Hormonal and Metabolic Characteristics and Ovary Response to Induced Ovulation in Amenorrheic and Oligomenorrheic Women with PCOS

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Journal of reproduction and Contraception 2012年第1期23卷 17-23页

作者： Wen-yan XI Fei GONG Wei LIU Guang-xiu LU Insistitute of reproduction and stem cell engineering Central South UniversityChangsha 410087China Reproductive and Genetic Hospital of Citic-Xiangya Changsha 410087China

Objective To compare differences in endocrine and metabolic characteristics and response to induced ovulation treatment between oligomenorrheic and amenorrheic women with polycystic ovary syndrome （PCOS）.Methods A total of 154 infertile PCOS patients presenting with oligomenorrhea or amenorrhea were retrospectively analysed, the differences in endocrine and metabolic characteristics and induced ovulation outcome parameters between oligomenorrheic and amenorrheic women were *** Total follicle count, serum levels of total testosterone （TT）, luteotropic hormone （LH） and insulin resistant index （HOMA-IR） were significantly higher in amenorrheic patients compared with oligomenorrheic patients （P 〈O. 05）. There were no differences in age, body mass index （BMI）, follicle stimulating hormone （FSH）, glucose, insulin levels and lipid level between the two groups. During clomiphene citrate （CC） and hMG induced ovulation （203 cycles）, the ovulation rate in amenorrheic group was significantly lower than that of oligomenorrheic group （84.62% vs 96.80%, P 〈0.01）. The duration to reach a dominant follicle, the cycles need to add hMG and the total dose of hMG were higher in women with amenorrhea compared with those with oligomenorrhea. No significant differences were found between the two groups in the total number of mature follicles, estradiol level and endometrial thickness on the day of hCG administration and pregnancy rate. Conclusion The degree of cycle irregularity might be a simple and effective clinical parameter to estimate the degree of metabolic and endocrine disorders and response to induced ovulation.

关键词： PCOS oligomenorrhea amenorrhea induced ovulation

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Porcine pluripotent stem cells: progress, challenges and prospects

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Frontiers of Agricultural Science and engineering 2019年第1期6卷 8-27页

作者： Jianyong HAN Yi-Liang MIAO Jinlian HUA Yan LI Xue ZHANG Jilong ZHOU Na LI Ying ZHANG Jinying ZHANG Zhonghua LIU State Key Laboratory for Agrobiotechnology College of Biological Sciences China Agricultural University Institute of stem cell and Regenerative Biology/College of Animal Science and Veterinary Medicine/Key Laboratory of Agricultural Animal Genetics Breeding and reproduction of Ministry of Education Huazhong Agricultural University College of Veterinary Medicine/Shaanxi Centre of stem cells engineering and Technology Northwest A&F University Key Laboratory of Animal cellular and Genetic engineering of Heilongjiang Province College of Life Science Northeast Agricultural University

Pluripotent stem cells(PSCs) are characterized by their capacity for high self-renewal and multiple differentiation potential and include embryonic stem cells, embryonic germ cells and induced PSCs. PSCs provide a very suitable model for the studies of human diseases, drugs screening, regenerative medicine and developmental biology research. Pigs are considered as an ideal model for preclinical development of human xenotransplantation, therapeutic approaches and regenerative medicine because of their size and physiological similarity to humans. However, lack of knowledge about the derivation, characterization and pluripotency mechanisms of porcine PSCs hinders progress in these biotechnologies. In this review, we discuss the latest progress on porcine PSCs generation, evaluation criteria for pluripotency, the scienti?c and technical questions arising from these studies. We also introduce our perspectives on porcine PSC research, in the hope of providing new ideas for generating naive porcine PSCs and animal breeding.

关键词： embryonic germ cells embryonic stem cells induced pluripotent stem cells pigs pluripotent stem cells

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Sperm banking for male reproductive preservation： a 6-year retrospective multi-centre study in China

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Asian Journal of Andrology 2010年第3期12卷 356-362,I0009页

作者： Ping Ping Wen-Bing Zhu Xin-Zong Zhang Kang-Shou Yao Peng Xu Yi-Ran Huang Zheng Li Department of Urology Shanghai Human Sperm Bank Shanghai Institute of Andrology Renji Hospital Shanghai Jiao Tong University School of Medicine Shanghai 200001 China Instinrte of Human reproduction and stem cell engineering Human Sperm Bank Central South University Changsha 410078 China Zhejiang Institute of Planned Parenthood Research ＆ Zhejiang Human Sperm Bank Hangzhou 310012 China jinghua Hospital Shenyang East Group Shenyang Reproductive Medicine Centre Shenyang 110005 China

Sperm banking can preserve male fertility effectively, but the current conditions of sperm cryopreservation in China have not been investigated. This retrospective investigation was based on data collected at multiple centres in China from January 2003 to December 2008. The collected data included urogenital history, indication for cryopreservation, semen parameters, use rate, type of assisted reproductive technique （ART） treatment and pregnancy outcome. The study population included 1 548 males who had banked their semen during the study period at one of the clinics indicated above. Approximately 1.9% （30/1 548） of the cryopreserved semen samples were collected from cancer patients; about 88.8% （1 374/1 548） of the patients had banked their semen for ART and 8.6% （134/1 548） had a male infertility disease （such as anejaculation, severe oligozoospermia and obstructive azoospermia）. The total use rate of cryopreserved semen was 22.7% （352/1 548）, with 119 live births. The cancer group use rate was 6.7% （2/30）, with one live birth by intracytoplasmic single sperm injection （ICSI）. The ART group use rate was 23.2% （319/1 374）, with 106 live births. The reproductive disease group use rate was 23.1% （31/134）, with 12 live births. The semen parameters in each category varied; the cancer patient and infertility disease groups had poor semen quality. In vitro fertilization （IVF） and ICSI were the most common ART treatments for cryopreserved sperm. Semen cryopreservation as a salvage method is effective, but in many conditions it is underutilized, especially in cancer patients. Lack of awareness, urgency of cancer treatment and financial constraints are the main causes of the low access rate. The concept of fertility preservation should be popularized to make better use of this medical service in China.

关键词： cancer cryopreservation infertility sperm

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Untargeted metabolomic analysis of pregnant women exposure to perfluorooctanoic acid at different degrees

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Frontiers of Environmental Science & engineering 2023年第3期17卷 11-21页

作者： Kaige Yang Zhouyi Zhang Kangdie Hu Bo Peng Weiwei Wang Hong Liang Chao Yan Mingyuan Wu Yan Wang School of Pharmacy Shanghai Jiao Tong UniversityShanghai 200240China engineering Research Center of cell and Therapeutic Antibody(Ministry of Education) School of PharmacyShanghai Jiao Tong UniversityShanghai 200240China NHC Key Laboratory of reproduction Regulation Shanghai Institute of Planned ParenthoodShanghai 200237China

Perfluorooctanoic acid(PFOA)is a novel type of persistent synthetic organic pollutant,and its exposure on pregnant women can cause some adverse effects,such as pregnancy-induced hypertension,gestational diabetes mellitus,and ***,understanding the metabolic changes caused by PFOA exposure is of great significance to protect pregnant women from its adverse *** this study,the metabolomes from the urine samples of pregnant women exposure to PFOA at different degrees were analyzed by GC-MS and *** samples in different groups were distinguished and the differential metabolites were screened based on the VIP value,FC,and P-value of each comparison group through multivariate statistical *** pathways related to differential metabolites were searched to reveal the effects of PFOA exposure on metabolic changes in pregnant women at different ***,the ROC of differential metabolites was performed,and the differential metabolites with large area under the curve(AUC)values were selected and compared to identify the mutually differential ***,these metabolites were fitted with a multivariable to explore if they could be used to distinguish different *** quantitative comparison of mutually differential metabolites revealed that the levels of L-cysteine,glycine,and 5-aminovaleric acid were positively correlated with the degree of PFOA exposure,indicating that different degrees of PFOA exposure could affect the synthesis or degradation of GSH and change the metabolism of oral or intestinal ***,they may cause oxidative stress and abnormal fat metabolism in pregnant women.

关键词： Perfluorooctanoic acid Exposure Pregnant women Metabolomic GSH Microbiotametabolism

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PIWI-specific insertion module: a newly identified regulatory element essential for longer pi RNAs loading and male fertility

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Science China(Life Sciences) 2023年第7期66卷 1708-1710页

作者： Chunyu Liu Feng Zhang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic EngineeringInstitute of Reproduction and DevelopmentFudan UniversityShanghai200011China

Small noncoding RNAs (sn RNAs) such as short interfering RNAs (si RNAs), micro RNAs (mi RNAs), and PIWI-interacting RNAs (pi RNAs) play important roles in diverse cellular processes. These small regulatory RNA molecules exert key regulatory functions by forming complexes with different Argonaute proteins, including the Argonaute(AGO) and PIWI subfamilies (Peters and Meister, 2007).AGO subfamily proteins are ubiquitously expressed and interact with mi RNAs or si RNAs, while PIWI subfamily proteins are expressed mainly in germline cells and interact specifically with pi RNAs (Bartel, 2018).

关键词： insertion fertility element

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Polymorphism of mitochondrial tRNA genes associated with the number of pigs born alive

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Journal of Animal Science and Biotechnology 2019年第1期10卷 33-42页

作者： Dan Wang Chao Ning Hai Xiang Xianrui Zheng Minghua Kong Tao Yin Jianfeng Liu Xingbo Zhao National engineering Laboratory for Animal Breeding Ministry of Agricultural Key Laboratory of Animal Genetics Breeding and Reproduction College of Animal Science and Technology China Agricultural University School of Life Science and engineering Foshan University

Background: Mutations in mitochondrial tRNA genes have been widely reported association with human *** is also important to explore the effect on the number of piglets born alive(NBA).Here,1017 sows were used to investigate the association between polymorphisms in mitochondrial tRNA genes and ***: In total,16 mutations were found in mitochondrial tRNA genes,of which 13 mutations were significantly associated with NBA(P reproductions of mutant carriers were significantly greater than that of wild carriers by 0.989 piglets born alive/sow *** test whether the mutations altered the structure of mitochondrial tRNAs,the secondary and tertiary structures were *** result,C2255 T changed the secondary structure of t RNA-Val by elongating the T stem and shrinking the T loop,and C2255 T and G2259 A in the tRNA-Val gene,C6217 T and T6219 C in the tRNA-Ala gene,and T15283 C in the tRNA-Glu gene altered the tertiary structure of their tRNAs,respectively by changing the folding form of the T arm,and C16487 T in the tRNA-Thr gene changed the tertiary structure of mitochondrial tRNA-Thr by influencing the folding form of the acceptor ***: Results highlight the effect of mitochondrial tRNA genes on the number of piglets born alive,and suggest that polymorphic sites of the tRNA genes be genetic markers for selection of pig reproduction.

关键词： Mitochondrial Number born alive Pig Polymorphism Transfer RNA

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Genetic basis of negative heterosis for growth traits in chickens revealed by genome-wide gene expression pattern analysis

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Journal of Animal Science and Biotechnology 2021年第4期12卷 1267-1280页

作者： Chunning Mai Chaoliang Wen Zhiyuan Xu Guiyun Xu Sirui Chen Jiangxia Zheng Congjiao Sun Ning Yang National engineering Laboratory for Animal Breeding and Key Laboratory of Animal Genetics Breeding and ReproductionMinistry of Agriculture and Rural AffairsChina Agricultural UniversityBeijing 100193China

Background:Heterosis is an important biological phenomenon that has been extensively utilized in agricultural ***,negative heterosis is also pervasively observed in nature,which can cause unfavorable impacts on production *** with systematic studies of positive heterosis,the phenomenon of negative heterosis has been largely ignored in genetic studies and breeding programs,and the genetic mechanism of this phenomenon has not been thoroughly elucidated to ***,we used chickens,the most common agricultural animals worldwide,to determine the genetic and molecular mechanisms of negative ***:We performed reciprocal crossing experiments with two distinct chicken lines and found that the body weight presented widely negative heterosis in the early growth of *** heterosis of carcass traits was more common than positive heterosis,especially breast muscle mass,which was over−40%in reciprocal ***-wide gene expression pattern analyses of breast muscle tissues revealed that nonadditivity,including dominance and overdominace,was the major gene inheritance *** genes,including a substantial number of genes encoding ATPase and NADH dehydrogenase,accounted for more than 68%of differentially expressed genes in reciprocal crosses(4257 of 5587 and 3617 of 5243,respectively).Moreover,nonadditive genes were significantly associated with the biological process of oxidative phosphorylation,which is the major metabolic pathway for energy release and animal growth and *** detection of ATP content and ATPase activity for purebred and crossbred progenies further confirmed that chickens with lower muscle yield had lower ATP concentrations but higher hydrolysis activity,which supported the important role of oxidative phosphorylation in negative heterosis for growth traits in ***:These findings revealed that nonadditive genes and their related oxidative phosphorylation were the m

关键词： Chicken Growth Gene expression patterns Heterosis Oxidative phosphorylation

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Hepatic steatosis is associated with dysregulated cholesterol metabolism and altered protein acetylation dynamics in chickens

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Journal of Animal Science and Biotechnology 2024年第1期15卷 53-67页

作者： Xiaoli Guo Qianqian Zhou Jiaming Jin Fangren Lan Chaoliang Wen Junying Li Ning Yang Congjiao Sun National engineering Laboratory for Animal Breeding and Key Laboratory of Animal Genetics Breeding and ReproductionMinistry of Agriculture and Rural AffairsChina Agricultural UniversityBeijing 100193China

Background Hepatic steatosis is a prevalent manifestation of fatty liver, that has detrimental effect on the health and productivity of laying hens, resulting in economic losses to the poultry industry. Here, we aimed to systematically investigate the genetic regulatory mechanisms of hepatic steatosis in laying *** Ninety individuals with the most prominent characteristics were selected from 686 laying hens according to the accumulation of lipid droplets in the liver, and were graded into three groups, including the control, mild hepatic steatosis and severe hepatic steatosis groups. A combination of transcriptome, proteome, acetylome and lipidome analyses, along with bioinformatics analysis were used to screen the key biological processes, modifications and lipids associated with hepatic *** The rationality of the hepatic steatosis grouping was verified through liver biochemical assays and RNA-seq. Hepatic steatosis was characterized by increased lipid deposition and multiple metabolic abnormalities. Integration of proteome and acetylome revealed that differentially expressed proteins(DEPs) interacted with differentially acetylated proteins(DAPs) and were involved in maintaining the metabolic balance in the liver. Acetylation alterations mainly occurred in the progression from mild to severe hepatic steatosis, i.e., the enzymes in the fatty acid oxidation and bile acid synthesis pathways were significantly less acetylated in severe hepatic steatosis group than that in mild group(P < 0.05). Lipidomics detected a variety of sphingolipids(SPs) and glycerophospholipids(GPs) were negatively correlated with hepatic steatosis(r ≤-0.5, P < 0.05). Furthermore, the severity of hepatic steatosis was associated with a decrease in cholesterol and bile acid synthesis and an increase in exogenous cholesterol *** In addition to acquiring a global and thorough picture of hepatic steatosis in laying hens, we were able to reveal the role of ac

关键词： Acetylation Cholesterol metabolism Hepatic steatosis Laying hens Multiomics

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