Xist lncRNA介导X染色体失活及应用研究进展

doi:10.16431/j.cnki.1671-7236.2022.01.023

Abstract

Abstract: X chromosome inactivation (XCI) is an epigenetic mechanism of dosage compensation between two sexes in mammals during mammalian embryonic development, which leads to the lifelong transcriptional silencing of one randomly chosen X chromosome in females. X chromosome inactivation center (XIC) is the main regulatory region of XCI, X-inactive specific transcript (Xist) is located in this region, and it is a key part of XCI. Xist long chain non-coding RNA(lncRNA) is an inactive specific transcript, which can recruit a series of auxiliary factors such as RNA interaction binding protein (RBP) and chromatin modification factors to change the spatial structure of chromosome and nucleus, chromatin composition and X-linked gene transcription level, so as to transform active chromosomes into inactive chromosomes. At present, studies in mice, humans and other species have found that the establishment and maintenance of appropriate econometric compensation are very important and widespread for mammals to survive in the embryonic development process. However, there are certain specific differences in the biological phenomenon of embryos in different species and genders, and some human diseases are also related to XCI, such as cancer and tumor. At present, the research on the mechanism of XCI is relatively scattered. The author summarizes the main molecular mechanism, regulatory mechanism and research in different species of XCI mediated by Xist lncRNA.

Key words: mammal; X chromosome inactivation (XCI); X chromosome inactivation center (XIC); X-inactive specific transcript (Xist); lncRNA

CLC Number:

S814.8

TAO Weikun, LIU Bo, HUANG Fei, WANG Jie, GAO Qinghua. Research Progress on Xist lncRNA Mediated X Chromosome Inactivation and Its Application[J]. China Animal Husbandry and Veterinary Medicine, 2022, 49(1): 216-223.

References

[1] LYON M F.The William Allan memorial award address:X-chromosome inactivation and the location and expression of X-linked genes[J].American Journal of Human Genetics,1988,42(1):8-16.
[2] YU B,VAN TOL H T A,STOUT T A E,et al.Initiation of X chromosome inactivation during bovine embryo development[J].Cells,2020,9(4):1016.
[3] DENG X,BERLETCH J B,NGUYEN D K,et al.X chromosome regulation:Diverse patterns in development,tissues and disease[J].Nature Reviews Genetics,2014,15(6):367-378.
[4] 杨贤法,景乃禾.哺乳动物早期胚胎发育及干细胞分化过程中的表观遗传调控研究[J].生命科学,2017,29(10):1046-1051. YANG X F,JING N H.The epigenetic mechanism of cell fate determination during early embryo development and stem cell differentiation[J].Chinese Bulletin of Life Sciences,2017,29(10):1046-1051.(in Chinese)
[5] 陆绮.X染色体失活现象与机制[J].自然杂志,2017,39(1):25-30. LU Q.Mechanisms of X chromosome inactivation[J].Chinese Journal of Nature,2017,39(1):25-30.(in Chinese)
[6] WANG W,MIN L,QIU X,et al.Biological function of long non-coding RNA (lncRNA) Xist[J].Frontiers in Cell and Developmental Biology,2021,9:645647.
[7] OHNO S,HAUSCHKA T S.Allocycly of the X-chromosome in tumors and normal tissues[J].Cancer Research,1960,20:541-545.
[8] LYON M F.Gene action in the X-chromosome of the mouse (Mus musculus L.)[J].Nature,1961,190:372-373.
[9] LYON M F.Sex chromatin and gene action in the mammalian X-chromosome[J].American Journal of Human Genetics,1962,14(2):135-148.
[10] 梁文权,赵存友.X染色体失活的研究进展[J/OL].妇产与遗传(电子版),2016,6(4):8-11. LIANG W Q,ZHAO C Y.Research progress on X chromosome inactivation[J/OL].Obstetrics-Gynecology and Genetics(Electronic Edition),2016,6(4):8-11.(in Chinese)
[11] LYON M F,SEARLE A G,FORD C E,et al.A mouse translocation suppressing sex-linked variegation[J].Cytogenetics,1964,3:306-323.
[12] 王杨,王贵英.X染色体失活、失活逃逸及相关疾病的研究进展[J].畜牧与饲料科学,2011,32(1):26-27. WANG Y,WANG G Y.Research progress on X chromosome inactivation,its escaping and the related diseases[J].Animal Husbandry and Feed Science,2011,32(1):26-27.(in Chinese)
[13] MACLARY E,BUTTIGIEG E,HINTEN M,et al.Differentiation-dependent requirement of Tsix long non-coding RNA in imprinted X-chromosome inactivation[J].Nature Communications,2014,5:4209.
[14] GARTLER S M,RIGGS A D.Mammalian X-chromosome inactivation[J].Annual Reviews of Genet,1983,17:155-190.
[15] LYON M F.X-chromosome inactivation:A repeat hypothesis[J].Cytogenetics and Cell Genetics,1998,80(1-4):133-137.
[16] ENGREITZ J M,PANDYA-JONES A,MCDONEL P,et al.The Xist lncRNA exploits three-dimensional genome architecture to spread across the X chromosome[J].Science,2013,341(6147):1237973.
[17] PINTER S F,SADREYEV R I,YILDIRIM E,et al.Spreading of X chromosome inactivation via a hierarchy of defined polycombstations[J].Genome Research,2012,22(10):1864-1876.
[18] SUNWOO H,WU J Y,LEE J T.The Xist RNA-PRC₂ complex at 20-nm resolution reveals a low Xist stoichiometry and suggests a hit-and-run mechanism in mouse cells[J].Proceedings of the National Academy of Sciences of the United States of America,2015,112(31):E4216-E4225.
[19] SIMON M D,PINTER S F,FANG R,et al.High-resolution Xist binding maps reveal two-step spreading during X-chromosome inactivation[J].Nature,2013,504(7480):465-469.
[20] GALUPA R,HEARD E.X-chromosome inactivation:New insights into cis and trans regulation[J].Current Opinion in Genetics & Development,2015,31:57-66.
[21] MARAHRENS Y,LORING J,JAENISCH R.Role of the Xist gene in X chromosome choosing[J].Cell,1998,92(5):657-664.
[22] MCHUGH C A,CHEN C K,CHOW A,et al.The Xist lncRNA interacts directly with SHARP to silence transcription through HDAC3[J].Nature,2015,521(7551):232-236.
[23] MINAJIGI A,FROBERG J,WEI C,et al.Chromosomes.A comprehensive Xist interactome reveals cohesin repulsion and an RNA-directed chromosome conformation[J].Science,2015,349(6245):10.
[24] MONFORT A,DI MININ G,POSTLMAYR A,et al.Identification of spen as a crucial factor for Xist function through forward genetic screening in haploid embryonic stem cells[J].Cell Reports,2015,12(4):554-561.
[25] DONOHOE M E,SILVA S S,PINTER S F,et al.The pluripotency factor Oct4 interacts with CTCF and also controls X-chromosome pairing and counting[J].Nature,2009,460(7251):128-132.
[26] NAVARRO P,OLEFIELD A,LEGOUPI J,et al.Molecular coupling of Tsix regulation and pluripotency[J].Nature,2010,468(7322):457-460.
[27] CHU C,ZHANG Q C,DA ROCHA S T,et al.Systematic discovery of Xist RNA binding proteins[J].Cell,2015,161(2):404-416.
[28] SARMA K,CIFUENTES-ROJAS C,ERGUN A,et al.ATRX directs binding of PRC2 to Xist RNA and polycombtargets[J].Cell,2014,159(4):869-883.
[29] DOSSIN F,PINHEIRO I,ZYLICZ J J,et al.SPEN integrates transcriptional and epigenetic control of X-inactivation[J].Nature,2020,578(7795):455-460.
[30] 冼诗瑶.X染色体失活与逃逸[J/OL].中国产前诊断杂志(电子版),2017,9(2):47-56. XIAN S Y.X chromosome inactivation and escape[J/OL].Chinese Journal of Prenatal Diagnosis (Electronic Version),2017,9(2):47-56.(in Chinese)
[31] OIKAWA M,INOUE K,SHIURA H,et al.Understanding the X chromosome inactivation cycle in mice:A comprehensive view provided by nuclear transfer[J].Epigenetics,2014,9(2):204-211.
[32] NAVARRO-COBOS M J,BALATON B P,BROWN C J.Genes that escape from X-chromosome inactivation:Potential contributors to Klinefelter syndrome[J].American Journal of Meddical Genetics,2020,184(2):226-238.
[33] KAWASHIMA S,HATTORI A,SUZUKI E,et al.Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements[J].Clinical Epigenetics,2021,13(1):134.
[34] OKAMOTO I,PATRAT C,THEPOT D,et al.Eutherian mammals use diverse strategies to initiate X-chromosome inactivation during development[J].Nature,2011,472(7343):370-374.
[35] OKAMOTO I,OTTE A P,ALLIS C D,et al.Epigenetic dynamics of imprinted X inactivation during early mouse development[J].Science,2004,303(5658):644-649.
[36] WU H,LUO J,YU H,et al.Cellular resolution maps of X chromosome inactivation:Implications for neural development,function,and disease[J].Neuron,2014,81(1):103-119.
[37] SUGIMOTO M,ABE K.X chromosome reactivation initiates in nascent primordial germ cells in mice[J].PLoS Genetics,2007,3(7):e116.
[38] KIDDER B L.Derivation of maternal epiblast stem cells from haploid embryos[J].Methods in Molecular Biology,2020,2117:219-227.
[39] OHHATA T,WUTZ A.Reactivation of the inactive X chromosome in development and reprogramming[J].Cellular and Molecular Life Sciences,2013,70(14):2443-2461.
[40] SHAO C,TAKAGI N.An extra maternally derived X chromosome is deleterious to early mouse development[J].Development,1990,110(3):969-975.
[41] GOTO Y,TAKAGI N.Tetraploid embryos rescue embryonic lethality caused by an additional maternally inherited X chromosome in the mouse[J].Development,1998,125(17):3353-3363.
[42] 刘丽娟.自然流产性别特异性胚胎淘汰及其发生机制的初步研究[D].广州:南方医科大学,2010. LIU L J.Initial study on the phenomenon and mechanism of sex-specific embryo elimination in spontaneous abortion[D].Guangzhou:Southern Medical University,2010.(in Chinese)
[43] OH H J,LEE J T.Long noncoding RNA functionality beyond sequence:The JPX model:Commentary on "functional conservation of lncRNA JPX despite sequence and structural divergence" by Karner et al(2019)[J].Journal of Molecular Biology,2020,432(2):301-304.
[44] NESTEROVA T B,WEI G,COKER H,et al.Systematic allelic analysis defines the interplay of key pathways in X chromosome inactivation[J].Natural Communications,2019,10(1):3129.
[45] SCHERTZER M D,BRACEROS K C A,STARMER J,et al.lncRNA-induced spread of polycomb controlled by genome architecture,RNA abundance,and CpG island DNA[J].Molecular Cell,2019,75(3):523-537.
[46] GUTTMAN M,DONAGHEY J,CAREY B W,et al.lincRNAs act in the circuitry controlling pluripotency and differentiation[J].Nature,2011,477(7364):295-300.
[47] PATRAT C,OUIMETTE J F,ROUGEULLE C.X chromosome inactivation in human development[J].Development,2020,147(1):dev183095.
[48] AN C,FENG G,ZHANG J,et al.Overcoming autocrine FGF signaling-induced heterogeneity in naive human ESCs enables modeling of random X chromosome inactivation[J].Cell Stem Cell,2020,27(3):482-497.
[49] CAZOTTES E,ROUGEULLE C.Straight to the X:Modeling human X chromosome inactivation in hESCs by FGF signal blockade[J].Cell Stem Cell,2020,27(3):352-353.
[50] PETROPOULOS S,EDSGARD D,REINIUS B,et al.Single-cell RNA-Seq reveals lineage and X chromosome dynamics in human preimplantation embryos[J].Cell,2016,165(4):1012-1026.
[51] 何杰.牛早期胚胎发育中JPX影响XIST表达的研究[D].杨凌:西北农林科技大学,2016. HE J.JPX regulates the expression of XIST in the development of bovine early embryo[D].Yangling:Northwest A&F University,2016.(in Chinese)
[52] MIN B,PARK J S,JEON K,et al.Characterization of X-chromosome gene expression in bovine blastocysts derived by in vitro fertilization and somatic cell nuclear transfer[J].Fronttiers in Genetics,2017,8:42.
[53] 邹惠影.猪XIST表达及X染色体失活规律的研究[D].北京:中国农业大学,2016. ZOU H Y.XIST expression and X chromosome inactivation (XCI) in pigs[D].Beijing:China Agricultural University,2016.(in Chinese)
[54] MENDONCA A D S,SILVEIRA M M,RIOS Á F L,et al.DNA methylation and functional characterization of the XIST gene during in vitro early embryo development in cattle[J].Epigenetics,2019,4(6):568-588.
[55] DUAN J E,FLOCK K,JUE N,et al.Dosage compensation and gene expression of the X chromosome in sheep[J].G3,2019,9(1):305-314.
[56] 高川.小鼠胚胎早期发育过程中Xist基因的转录模式[D].北京:中国农业大学,2004. GAO C.The transcription pattern of Xist in the development of mouse preimplantation embryo[D].Beijing:China Agricultural University,2004.(in Chinese)
[57] 吴霄.猪供体细胞的Xist基因DNA甲基化水平对其克隆胚胎发育的影响[D].广州:华南农业大学,2018. WU X.Effect of DNA methylation level of Xist gene in donor cells on the development of cloned pig embryos[D].Guangzhou:South China Agricultural University,2018.(in Chinese)
[58] MAHPOUR A,MULLEN A C.Our emerging understanding of the roles of long non-coding RNAs in normal liver function,disease,and malignancy[J].JHEP Reports,2020,3(1):100177.

Research Progress on Xist lncRNA Mediated X Chromosome Inactivation and Its Application

PDF (PC)

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics

Comments

[1]	LI Jie, CHEN Chuwen, ZHAO Ruipeng, LIU Yuan, LI Zhixiong. Research Progress on Long Non-coding RNA of Muscle Development in Livestock and Poultry [J]. China Animal Husbandry and Veterinary Medicine, 2023, 50(6): 2427-2438.
[2]	WANG Yunlu, MENG Zhaoyi, YAO Yilong, GUO Min, NIU Jiaqaing, SUOLANG Sizhu, XU Yefen. Screening and Targeting Verification of lncRNA of "Sponge Adsorption" bta-miR-146a in Yak [J]. China Animal Husbandry and Veterinary Medicine, 2023, 50(3): 859-869.
[3]	GAO Xiaomin, ZHOU Shujian, CHEN Chen, JIN Jing, HU Cai, ZHANG Chen, ZUO Qisheng, ZHANG Yani, CHEN Guohong, LI Bichun. Regulation of STAT1 and Histone Acetylation Modification on lncRNA-BMP4 Transcription in Chickens [J]. China Animal Husbandry and Veterinary Medicine, 2022, 49(9): 3321-3332.
[4]	YU Peng, NIU Xiaoyu, DONG Ling, LU Mengqi, CHEN Yanhong, LI Fan, SONG Hui. Research Progress on the Role of lncRNA in Porcine Abortion-related Virus Infection [J]. China Animal Husbandry and Veterinary Medicine, 2022, 49(9): 3559-3568.
[5]	CHEN Shiyu, CUI Shuai, JIANG Yajun, XIN Ting, WANG Yang, HAO Yuxin, HUANG Jianxin, GUO Xiaoyu, ZHU Hongfei, WU Jiajun, JIA Hong. lncRNA-mRNA Analysis of Toll-like Receptor Signaling in Porcine Peripheral Blood Lymphocytes After African Swine Fever Virus Infection [J]. China Animal Husbandry and Veterinary Medicine, 2022, 49(7): 2677-2687.
[6]	XUE Qian, LI Guohui, XING Weijie, ZHOU Chenghao, ZHANG Huiyong, YIN Jianmei, ZHU Yunfen, CAO Yuxia, SU Yijun, HAN Wei. Screening of lncRNA Related to Inbreeding Depression of Reproduction in Chickens [J]. China Animal Husbandry and Veterinary Medicine, 2022, 49(6): 2176-2185.
[7]	SU Xiaohui, HE Haiying, TUERXUNAYI·Yalikun, WANG Qiong, MA Haiyu, LIU Lingling, LIU Wujun. Identification and Analysis of Differentially Expressed lncRNA of Tail Fat in the Second Generation of Crossbred from Wild Argali×Bashibai Sheep [J]. China Animal Husbandry and Veterinary Medicine, 2022, 49(5): 1796-1805.
[8]	WANG Dong, LIANG Jiayue, WANG Xiaobing, FENG Juan, ZHANG Ru, XIA Huiyan, XIAO Hongmei. Research Progress of Non-coding RNA in the Development of Hair Follicles of Cashmere Goats [J]. China Animal Husbandry and Veterinary Medicine, 2022, 49(5): 1817-1827.
[9]	ZHANG Yiqing, LI Juan, QI Nanshan, LIAO Shenquan, LYU Minna, LIN Xuhui, CAI Haiming, HU Junjing, ZHANG Jianfei, LI Yugu, SUN Mingfei. Mechanism of lncRNA in Apicomplexan Parasites Infection [J]. China Animal Husbandry and Veterinary Medicine, 2022, 49(11): 4392-4400.
[10]	REN Lingtong, LIU Lingbin, LI Jialu, CHENG Lei, LIU Anfang. Research Progress on Long Non-coding RNA Associated with Myogenesis [J]. China Animal Husbandry and Veterinary Medicine, 2021, 48(8): 2957-2965.
[11]	LI Pei, LIU Guomei, LIU Yingying, LIU Mandi, LI Yan, FAN Jinghui. Analysis of lncRNA Expression Profile in Porcine Intestinal Epithelial Cells Infected with Enterotoxigenic Escherichia coli F41 at Early Stage [J]. China Animal Husbandry and Veterinary Medicine, 2021, 48(5): 1707-1716.
[12]	WANG Pengpeng, HUANG Shulin, ZHANG Yunke, WANG Zhanhui, WU Wenxue. Research Progress on Serum-free Suspension Culture of Mammalian Cells [J]. China Animal Husbandry and Veterinary Medicine, 2021, 48(3): 839-845.
[13]	TIAN Quan, ZHAO Yi, WANG Zhuo, LIU Lei, ZHANG Junzheng, JI Shuang. Polymorphisms of lncRNA MEG3 Gene and Its Correlation with Growth Traits in Yanbian Yellow Cattle [J]. China Animal Husbandry and Veterinary Medicine, 2021, 48(12): 4567-4574.
[14]	JIAO Hanwei, ZHOU Zhixiong, LI Mengjuan, XIAO Yu, LI Bowen, GUO Xiaoyi, ZENG Hui, GU Guojing, SHUAI Xuehong. Identification of lncRNA-mRNA Regulatory Network of Riboflavin Metabolism in HepG2 Cells Affected by Swine Hepatitis E Virus ORF3 Protein [J]. China Animal Husbandry and Veterinary Medicine, 2021, 48(12): 4618-4627.
[15]	LIN Zekun, ZHUANG Xiaona, LUO Junyi, CHEN Ting, XI Qianyun, ZHANG Yongliang, SUN Jiajie. Effects of Non-coding RNAs on Skeletal Muscle Development in Pigs [J]. China Animal Husbandry and Veterinary Medicine, 2021, 48(10): 3595-3603.