高通量转录组测序在人类配子发生及植入前胚胎发育研究中的应用进展
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摘要
辅助生殖技术的成熟运用为不孕不育患者带来了福音。配子发生和胚胎早期发育是辅助生殖的核心,对配子及胚胎研究的生物手段层出不穷,其中,高通量转录组测序技术为解决这种问题提供了新的思路。转录组研究可以帮助我们研究基因的表达及调控方式,也可以帮助我们发掘相关功能基因。在此基础上,可以分析这些差异基因的功能、信号通路和调控网络,为解析不孕不育病理机制提供理论基础。因此,本文综述了高通量转录组测序在卵母细胞成熟、精子发生以及植入前胚胎发育方面的相关研究进展,探讨了该技术在辅助生殖方向的应用价值,以期对临床提供分子层面的线索。
Mature application of assisted reproductive technology brings good news to infertile patients.Gametogenesis and early embryonic development is the core of assisted reproduction.There are many biological methods to study gametes and embryos.Among them,high-throughput transcriptome sequencing(RNA-seq)provides new research ideas.Transcriptome research can help us to study the expression and regulation of genes,as well as explore the related functional genes.On this basis,we can analyze the function,signal pathway and regulatory network of these differentially expressed genes,and provide a theoretical basis for analyzing the pathogenesis of infertility.Therefore,this review summarizes the research progress in application of RNA-seq in the research of oocyte maturation,spermatogenesis and pre-implantation embryo development,and discusses the application value of this technique in assisted reproduction to provide clinical clues at the molecular level.
Mature application of assisted reproductive technology brings good news to infertile patients.Gametogenesis and early embryonic development is the core of assisted reproduction.There are many biological methods to study gametes and embryos.Among them,high-throughput transcriptome sequencing(RNA-seq)provides new research ideas.Transcriptome research can help us to study the expression and regulation of genes,as well as explore the related functional genes.On this basis,we can analyze the function,signal pathway and regulatory network of these differentially expressed genes,and provide a theoretical basis for analyzing the pathogenesis of infertility.Therefore,this review summarizes the research progress in application of RNA-seq in the research of oocyte maturation,spermatogenesis and pre-implantation embryo development,and discusses the application value of this technique in assisted reproduction to provide clinical clues at the molecular level.
引文
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[14]梁鑫,成姝婷,王正荣,等.Clock基因对精子顶体酶的影响[J].中国男科学杂志,2015,29:3-7,22.
[15]Liang X,Cheng S,Jiang X,et al.The noncircadian function of the circadian clock gene in the regulation of male fertility[J].J Biol Rhythm,2013,28:208-217.
[16]罗斌,何维,王世恒,等.弱精子症患者精子外周致密纤维2基因及蛋白的表达[J].中华男科学杂志,2017,23:1002-1006.
[17]李雪瑶,杨菁,李洁,等.piRNA通路在生精过程中的作用[J].生殖医学杂志,2018,27:95-99.
[18]Wang J,Fan HC,Behr B,et al.Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm[J].Cell,2012,150:402-412.
[19]Dobson AT,Raja R,Abeyta MJ,et al.The unique transcriptome through day 3 of human preimplantation development[J].Hum Mol Genet,2004,13:1461-1470.
[20]Vassena R,BouéS,González-Roca E,et al.Waves of early transcriptional activation and pluripotency program initiation during human preimplantation development[J].Development,2011,138:3699-3709.
[21]Guo H,Zhu P,Yan L,et al.The DNA methylation landscape of human early embryos[J].Nature,2014,511:606-610.
[22]Guo F,Li L,Li J,et al.Single-cell multi-omics sequencing of mouse early embryos and embryonic stem cells[J].Cell Res,2017,27:967-988.
[23]Zhu P,Guo H,Ren Y,et al.Single-cell DNA methylome sequencing of human preimplantation embryos[J].Nat Genet,2018,50:12-19.
[24]Wu J,Xu J,Liu B,et al.Chromatin analysis in human early development reveals epigenetic transition during ZGA[J].Nature,2018,557:256-260.
[25]Li L,Guo F,Gao Y,et al.Single-cell multi-omics sequencing of human early embryos[J].Nat Cell Biol,2018,20:847-858.
[26]Carvalho B,Dória S,Ramalho C,et al.Aneuploidies detection in miscarriages and fetal deaths using multiplex ligationdependent probe amplification:An alternative for speeding up results[J].Eur J Obstet Gynecol Reprod Biol,2010,153:151-155.
[27]张影,向卉芬,徐祖滢,等.高通量测序技术在复发性流产病因诊断中的应用[J].中华生殖与避孕杂志,2018,38:127-130.
[28]Lee MT,Bonneau AR,Takacs CM,et al.Nanog,Pou5f1and SoxB1activate zygotic gene expression during the maternalto-zygotic transition[J].Nature,2013,503:360-364.
[29]Moriwaki K,Tsukita S,Furuse M.Tight junctions containing claudin 4 and 6 are essential for blastocyst formation in preimplantation mouse embryos[J].Dev Biol,2007,312:509-522.
[30]Tadros W,Lipshitz HD.The maternal-to-zygotic transition:a play in two acts[J].Development,2009,136:3033-3042.
[31]Gross N,Kropp J,Khatib H.MicroRNA signaling in embryo development[J].Biology,2017,6:34-56.
[32]Su X,Hu Y,Li Y,et al.The polymorphism of rs6505162in the MIR423coding region and recurrent pregnancy loss[J].Reproduction,2015,150:65-76.
[33]林海军.胚胎中lncRNA的预测及其在胚胎发育过程中的功能分析[D].南昌大学,2015.
[34]Zuo Y,Su G,Wang S,et al.Exploring timing activation of functional pathway based on differential co-expression analysis in preimplantation embryogenesis[J].Oncotarget,2016,7:74120-74131.
[35]Shi C,Han HJ,Fan LJ,et al.Diverse endometrial mRNAsignatures during the window of implantation in patients with repeated implantation failure[J].Hum Fertil,2018,21:183-194.
[2]Matzuk MM,Lamb DJ.The biology of infertility:Reaearch advances and clinical challenges[J].Nat Med,2008,14:1197-1213.
[3]Yan L,Yang M,Guo H,et al.Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells[J].Nat Struct Mol Biol,2013,20:1131-1139.
[4]字向东,罗斌,夏威,等.基于RNA-Seq技术的牦牛体外受精胚胎发育转录组分析[J].中国农业科学,2018,51:1577-1589.
[5]Labrecque R,Sirard MA.The study of mammalian oocyte competence by transcriptome analysis:progress and challenges[J].Mol Hum Reprod,2014,20:103-116.
[6]Hou Y,Fan W,Yan L,et al.Genome Analyses of Single Human Oocytes[J].Cell,2013,155:1492-1506.
[7]Zhao H,Li T,Zhao Y,et al.Single-cell transcriptomics of human oocytes:environment-driven metabolic competition and compensatory mechanisms during oocyte maturation[J].Antioxid Redox Signal,2018,30:542-559.
[8]Montjean D,De La Grange P,Gentien D,et al.Sperm transcriptome profiling in oligozoospermia[J].J Assist Reprod Genet,2012,29:3-10.
[9]Djureinovic D,Fagerberg L,Hallstr9m B,et al.The human testis-specific proteome defined by transcriptomics and antibody-based profiling[J].Mol Hum Reprod,2014,20:476-488.
[10]Zhu J,Chen G,Zhu S,et al.Identification of tissue-specific protein-coding and noncoding transcripts across 14 human tissues using RNA-seq[J].Sci Rep,2016,6:28400.
[11]El Fekih S,Nguyen MH,Perrin A,et al.Sperm RNApreparaton for transcriptomic analysis:Review of the techniques and personal experience[J].Andrologia,2017,49.doi:10.1111/and.12767.
[12]D’Aurora M,Ferlin A,Di Nicola M,et al.Deregulation of sertoli and leydig cells function in patients with klinefelter syndrome as evidenced by testis transcriptome analysis[J].BMC Genomics,2015,16:156.
[13]Chen Y,Zheng Y,Gao Y,et al.Single-cell RNA-seq uncovers dynamic processes and critical regulators in mouse spermatogenesis[J].Cell Res,2018,28:879-896.
[14]梁鑫,成姝婷,王正荣,等.Clock基因对精子顶体酶的影响[J].中国男科学杂志,2015,29:3-7,22.
[15]Liang X,Cheng S,Jiang X,et al.The noncircadian function of the circadian clock gene in the regulation of male fertility[J].J Biol Rhythm,2013,28:208-217.
[16]罗斌,何维,王世恒,等.弱精子症患者精子外周致密纤维2基因及蛋白的表达[J].中华男科学杂志,2017,23:1002-1006.
[17]李雪瑶,杨菁,李洁,等.piRNA通路在生精过程中的作用[J].生殖医学杂志,2018,27:95-99.
[18]Wang J,Fan HC,Behr B,et al.Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm[J].Cell,2012,150:402-412.
[19]Dobson AT,Raja R,Abeyta MJ,et al.The unique transcriptome through day 3 of human preimplantation development[J].Hum Mol Genet,2004,13:1461-1470.
[20]Vassena R,BouéS,González-Roca E,et al.Waves of early transcriptional activation and pluripotency program initiation during human preimplantation development[J].Development,2011,138:3699-3709.
[21]Guo H,Zhu P,Yan L,et al.The DNA methylation landscape of human early embryos[J].Nature,2014,511:606-610.
[22]Guo F,Li L,Li J,et al.Single-cell multi-omics sequencing of mouse early embryos and embryonic stem cells[J].Cell Res,2017,27:967-988.
[23]Zhu P,Guo H,Ren Y,et al.Single-cell DNA methylome sequencing of human preimplantation embryos[J].Nat Genet,2018,50:12-19.
[24]Wu J,Xu J,Liu B,et al.Chromatin analysis in human early development reveals epigenetic transition during ZGA[J].Nature,2018,557:256-260.
[25]Li L,Guo F,Gao Y,et al.Single-cell multi-omics sequencing of human early embryos[J].Nat Cell Biol,2018,20:847-858.
[26]Carvalho B,Dória S,Ramalho C,et al.Aneuploidies detection in miscarriages and fetal deaths using multiplex ligationdependent probe amplification:An alternative for speeding up results[J].Eur J Obstet Gynecol Reprod Biol,2010,153:151-155.
[27]张影,向卉芬,徐祖滢,等.高通量测序技术在复发性流产病因诊断中的应用[J].中华生殖与避孕杂志,2018,38:127-130.
[28]Lee MT,Bonneau AR,Takacs CM,et al.Nanog,Pou5f1and SoxB1activate zygotic gene expression during the maternalto-zygotic transition[J].Nature,2013,503:360-364.
[29]Moriwaki K,Tsukita S,Furuse M.Tight junctions containing claudin 4 and 6 are essential for blastocyst formation in preimplantation mouse embryos[J].Dev Biol,2007,312:509-522.
[30]Tadros W,Lipshitz HD.The maternal-to-zygotic transition:a play in two acts[J].Development,2009,136:3033-3042.
[31]Gross N,Kropp J,Khatib H.MicroRNA signaling in embryo development[J].Biology,2017,6:34-56.
[32]Su X,Hu Y,Li Y,et al.The polymorphism of rs6505162in the MIR423coding region and recurrent pregnancy loss[J].Reproduction,2015,150:65-76.
[33]林海军.胚胎中lncRNA的预测及其在胚胎发育过程中的功能分析[D].南昌大学,2015.
[34]Zuo Y,Su G,Wang S,et al.Exploring timing activation of functional pathway based on differential co-expression analysis in preimplantation embryogenesis[J].Oncotarget,2016,7:74120-74131.
[35]Shi C,Han HJ,Fan LJ,et al.Diverse endometrial mRNAsignatures during the window of implantation in patients with repeated implantation failure[J].Hum Fertil,2018,21:183-194.
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