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作 者:孙龙杰 陈娟 叶融 吕征 陈雪雪 谢小梅 李雨衡 王超凡 吕鹏博 阎璐 田爽 姚晓红 陈忱 崔胜 刘佳利 Longjie Sun;Juan Chen;Rong Ye;Zheng Lv;Xuexue Chen;Xiaomei Xie;Yuheng Li;Chaofan Wang;Pengbo Lv;Lu Yan;Shuang Tian;Xiaohong Yao;Chen Chen;Sheng Cui;Jiali Liu(State Key Laboratory of Animal Biotech Breeding,College of Biological Sciences,China Agricultural University,Beijing 100193,China;Key Laboratory of Precision Nutrition and Food Quality,Department of Nutrition and Health,China Agricultural University,Beijing 100190,China;Key Laboratory of RNA Biology,Institute of Biophysics,Chinese Academy of Sciences,Beijing 100101,China;Department of Animal Science,Michigan State University,East Lansing 48824,USA;Reproductive and Developmental Sciences Program,Michigan State University,East Lansing 48824,USA;Department of Obstetrics,Gynecology and Reproductive Biology,Michigan State University,Grand Rapids 49503,USA;College of Veterinary Medicine,Yangzhou University,Yangzhou 225009,China)
机构地区:[1]State Key Laboratory of Animal Biotech Breeding,College of Biological Sciences,China Agricultural University,Beijing 100193,China [2]Key Laboratory of Precision Nutrition and Food Quality,Department of Nutrition and Health,China Agricultural University,Beijing 100190,China [3]Key Laboratory of RNA Biology,Institute of Biophysics,Chinese Academy of Sciences,Beijing 100101,China [4]Department of Animal Science,Michigan State University,East Lansing 48824,USA [5]Reproductive and Developmental Sciences Program,Michigan State University,East Lansing 48824,USA [6]Department of Obstetrics,Gynecology and Reproductive Biology,Michigan State University,Grand Rapids 49503,USA [7]College of Veterinary Medicine,Yangzhou University,Yangzhou 225009,China
出 处:《Science Bulletin》2023年第11期1100-1104,M0003,共6页科学通报(英文版)
基 金:the National Natural Science Foundation of China(32171111);the Beijing Natural Science Foundation(5222015)。
摘 要:同源染色体配对和联会是第一次减数分裂过程中的重要环节.然而,可变剪接(AS)在同源染色体配对和联会中发挥作用的基本机制仍不清楚.本文揭示了SRSF1对于同源染色体配对和联会中的AS和基因表达至关重要.小鼠生精细胞中Srsf1的缺失导致同源染色体配对和联会异常,引发非阻塞性无精子症(NOA).在同源染色体识别、端粒介导的染色体移动以及联会复合体(SC)组装过程中,SRSF1与TRA2B和U2AF2相互作用,直接结合并通过AS调控Dmc1、Sycp1和Sun1的表达.总之,本研究揭示了在同源染色体配对和联会中SRSF1介导的转录后调控的关键作用,为阐明雄性减数分裂转录后调控的分子网络提供理论依据.Meiotic recombination-related gene(e.g.,DMC1,HFM1,MEIOB,MAJIN,C14ORF39/SIX6OS1,STAG3,SYCE1,SYCP2/3,and TERB1/2)mutations have been identified in human subfertility or infertility[1].Surprisingly,most patients have been found to have aberrant splicing of genes such as MEIOB,C14ORF39/SIX6OS1,STAG3,and SYCE1[1].Therefore,it is imperative to understand the mechanism of alternative splicing(AS)and its role in human reproduction to provide new insights for clinical diagnosis[2,3].It is well known that testes are rich in AS events[4,5].However,the underlying mechanisms of how AS functions in homologous pairing and synapsis are still largely unclear.Our previous research has shown that serine/arginine-rich splicing factor 1(SRSF1)deficiency impairs primordial follicle formation and leads to primary ovarian insufficiency(POI)[6].
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