XU Juanzhi , YAN Qiongxian , WU Xiaosong , TAN Zhiliang . Imprinted Genes: Regulatory Mechanism on Development of Mammalian Embryos and Placenta[J]. Chinese Journal of Animal Nutrition, 2016 , 28(6) : 1661 -1669 . DOI: 10.3969/j.issn.1006-267x.2016.06.005

[1] BURTON G J,SEBIRE N J,MYATT L,et al.Optimising sample collection for placental research[J].Placenta,2014,35(1):9-22.  
[2] CROUSE H V.The controlling element in sex chromosome behavior in Sciara[J].Genetics,1960,45(10):1429-1443.
[3] CROUSE H V,BROWN A,MUMFORD B C.L-Chromosome inheritance and the problem of chromosome "imprinting" in Sciara (Sciaridae,Diptera)[J].Chromosoma,1971,34(3):324-339.
[4] MOORE T,HAIG D.Genomic imprinting in mammalian development:a parental tug-of-war[J].Trends in Genetics,1991,7(2):45-49.  
[5] MCGRATH J,SOLTER D.Nuclear transplantation in the mouse embryo by microsurgery and cell fusion[J].Science,1983,220(4603):1300-1302.  
[6] BARLOW D P,STÖGER R,HERRMANN B G,et al.The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus[J].Nature,1991,349(6304):84-87.  
[7] DECHIARA T M,ROBERTSON E J,EFSTRATIADIS A.Parental imprinting of the mouse insulin-like growth factor Ⅱ gene[J].Cell,1991,64(4):849-859.  
[8] FERGUSON-SMITH A C,CATTANACH B M,BARTON S C,et al.Embryological and molecular investigations of parental imprinting on mouse chromosome 7[J].Nature,1991,351(6328):667-670.  
[9] BARTOLOMEI M S,ZEMEL S,TILGHMAN S M.Parental imprinting of the mouse H19 gene[J].Nature,1991,351(6322):153-155.  
[10] RENFREE M B,HORE T A,SHAW G,et al.Evolution of genomic imprinting:insights from marsupials and monotremes[J].Annual Review of Genomics and Human Genetics,2009,10:241-262.
[11] WAN L B,BARTOLOMEI M S.Regulation of imprinting in clusters:noncoding RNAs versus insulators[J].Advances in Genetics,2008,61:207-223.
[12] 周泉勇.大白猪和二花脸猪妊娠后期胎盘转录谱比较及印记基因鉴定研究[D].博士学位论文.武汉:华中农业大学,2009.
[13] HIKICHI T,KOHDA T,KANEKO-ISHINO T,et al.Imprinting regulation of the murine Meg1/Grb10 and human GRB10 genes;roles of brain-specific promoters and mouse-specific CTCF-binding sites[J].Nucleic Acids Research,2003,31(5):1398-1406.  
[14] MONK D.Germline-derived DNA methylation and early embryo epigenetic reprogramming:the selected survival of imprints[J].The International Journal of Biochemistry & Cell Biology,2015,67:128-138.
[15] 白莉雅,肖遥,滑国华,等.表观遗传学在动物繁育上的应用研究[J].中国奶牛,2010(9):19-23.
[16] BARLOW D P,BARTOLOMEI M S.Genomic imprinting in mammals[J].Cold Spring Harbor Perspectives in Biology,2014,6(2):1-20.
[17] HAJKOVA P,ANCELIN K,WALDMANN T,et al.Chromatin dynamics during epigenetic reprogramming in the mouse germ line[J].Nature,2008,452(7189):877-881.  
[18] CONSTÂNCIA M,KELSEY G,REIK W.Fertility resourceful imprinting[J].Nature,2004,432(7013):53-57.  
[19] MORISON I M,RAMSAY J P,SPENCER H G.A census of mammalian imprinting[J].Trends in Genetics,2005,21(8):457-465.  
[20] CHARALAMBOUS M,DA ROCHA S T,FERGUSON-SMITH A C.Genomic imprinting,growth control and the allocation of nutritional resources:consequences for postnatal life[J].Current Opinion in Endocrinology,Diabetes,and Obesity,2007,14(1):3-12.  
[21] WILKINSON L S,DAVIES W,ISLES A R.Genomic imprinting effects on brain development and function[J].Nature Reviews Neuroscience,2007,8(11):832-843.  
[22] KOEPSELL H.The SLC22 family with transporters of organic cations,anions and zwitterions[J].Molecular Aspects of Medicine,2013,34(2/3):413-435.
[23] ABBOTT G W,TAI K K,NEVERISKY D,et al.KCNQ1,KCNE2,and Na⁺-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability[J].Science Signaling,2014,7(315):22.
[24] WILLIAMS J L R,FYFE G K,SIBLEY C P,et al.TEA-sensitive K⁺ channels regulate hCG secretion and production by human villous cytotrophoblast cells in vitro[C]//Pediatric research.Baltimore:International Pediatric Research Foundation,2007,62(3):387-387.
[25] DESFORGES M,LACEY H A,GLAZIER S L,et al.SNAT4 isoform of system A amino acid transporter is expressed in human placenta[J].American Journal of Physiology:Cell Physiology,2006,290(1):C305-C312.
[26] NOVAK D,LEHMAN M,BERNSTEIN M,et al.SNAT expression in rat placenta[J].Placenta,2006,27(4/5):510-516.
[27] SMITH R J,DEAN W,KONFORTOVA G,et al.Identification of novel imprinted genes in a genome-wide screen for maternal methylation[J].Genome Research,2003,13(4):558-569.  
[28] DESFORGES M,SIBLEY C P.Placental nutrient supply and fetal growth[J].International Journal of Developmental Biology,2010,54(2/3):377-390.
[29] CESARIO J M,MALT A L,DEACON L J,et al.Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene,p57^Kip2[J].Human Molecular Genetics,2015,24(17):5024-5039.  
[30] SHEN T L,GUAN J L.Grb7 in intracellular signaling and its role in cell regulation[J].Frontiers in Bioscience,2004,9:192-200.
[31] MARCINIAK M.Imprinting genomowy u ssakow:najnowsze doniesienia[J].Postapy Biologii Komórki,2008,35(2):243-257.  
[32] SHEN H,CAVALLERO S,ESTRADA K D,et al.Extracardiac control of embryonic cardiomyocyte proliferation and ventricular wall expansion[J].Cardiovascular Research,2015,105(3):271-278.  
[33] STOCKLER-IPSIROGLU S,VAN KARNEBEEK C D M.Cerebral creatine deficiencies:a group of treatable intellectual developmental disorders[J].Seminars in Neurology,2014,34(3):350-356.  
[34] 郭玲.人异常胎盘转录组分析及MAGEL2基因在猪胚胎中的印记研究[D].博士学位论文.武汉:华中农业大学,2013.
[35] REIK W,DEAN W,WALTER J.Epigenetic reprogramming in mammalian development[J].Science,2001,293(5532):1089-1093.  
[36] BARTOLOMEI M S,FERGUSON-SMITH A C.Mammalian genomic imprinting[J].Cold Spring Harbor Perspectives in Biology,2011,3(7):322-330.
[37] MACDONALD W A.Epigenetic mechanisms of genomic imprinting:common themes in the regulation of imprinted regions in mammals,plants,and insects[J].Genetics Research International,2012,2012:585024.
[38] VERONA R I,MANN M R W,BARTOLOMEI M S.Genomic imprinting:intricacies of epigenetic regulation in clusters[J].Annual Review of Cell and Developmental Biology,2003,19:237-259.
[39] MARÁŠEK P,DZIJAK R,STUDENYAK I,et al.Paxillin-dependent regulation of IGF2 and H19 gene cluster expression[J].Journal of Cell Science,2015,128(16):3106-3116.  
[40] BELL A C,FELSENFELD G.Methylation of a CTCF-dependent boundary controls imprinted expression of the IGF2 gene[J].Nature,2000,405(6785):482-485.  
[41] HARK A T,SCHOENHERR C J,KATZ D J,et al.CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/IGF2 locus[J].Nature,2000,405(6785):486-489.  
[42] MURRELL A,HEESON S,REIK W.Interaction between differentially methylated regions partitions the imprinted genes IGF2 and H19 into parent-specific chromatin loops[J].Nature Genetics,2004,36(8):889-893.  
[43] KURUKUTI S,TIWARI V K,TAVOOSIDANA G,et al.CTCF binding at the H19 imprinting control region mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to IGF2[J].Proceedings of The National Academy of Sciences of the United States,2006,103(28):10684-10689.  
[44] ISHIDA M,MOORE G E.The role of imprinted genes in humans[J].Molecular Aspects of Medicine,2013,34(4):826-840.  
[45] IDERAABDULLAH F Y,THORVALDSEN J L,MYERS J A,et al.Tissue-specific insulator function at H19/IGF2 revealed by deletions at the imprinting control region[J].Human Molecular Genetics,2014,23(23):6246-6259.  
[46] ANGIOLINI E,FOWDEN A,COAN P,et al.Regulation of placental efficiency for nutrient transport by imprinted genes[J].Placenta,2006,27(Suppl.):98-102.
[47] CONSTÂNCIA M,DEAN W,LOPES S,et al.Deletion of a silencer element in IGF2 results in loss of imprinting independent of H19[J].Nature Genetics,2000,26(2):203-206.  
[48] CONSTÂNCIA M,HEMBERGER M,HUGHES J,et al.Placental-specific IGF-Ⅱ is a major modulator of placental and fetal growth[J].Nature,2002,417(6892):945-948.  
[49] 王增艳.玻璃化冷冻小鼠胚胎对印记基因H19/IGF2印记控制区甲基化状态及基因表达量的影响[D].博士学位论文.北京:北京协和医学院,2010.
[50] ST-PIERRE J,HIVERT M F,PERRON P,et al.IGF2 DNA methylation is a modulator of newborn's fetal growth and development[J].Epigenetics,2012,7(10):1125-1132.  
[51] HOYO C,FORTNER K,MURTHA A P,et al.Association of cord blood methylation fractions at imprinted insulin-like growth factor 2(IGF2),plasma IGF2,and birth weight[J].Cancer Causes & Control,2012,23(4):635-645.  
[52] KOUKOURA O,SIFAKIS S,SOUFLA G,et al.Loss of imprinting and aberrant methylation of IGF2 in placentas from pregnancies complicated with fetal growth restriction[J].International Journal of Molecular Medicine,2011,28(4):481-487.
[53] KOUKOURA O,SIFAKIS S,ZARAVINOS A,et al.Hypomethylation along with increased H19 expression in placentas from pregnancies complicated with fetal growth restriction[J].Placenta,2010,32(1):51-57.
[54] BOURQUE D K,AVILA L,PEÑAHERRERA M,et al.Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsia[J].Placenta,2010,31(3):197-202.  
[55] DA ROCHA S T,EDWARDS C A,ITO M,et al.Genomic imprinting at the mammalian Dlk1-Dio3 domain[J].Trends Genetics,2008,24(6):306-316.  
[56] BRANDT J,VEITH A M,VOLFF J N.A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian genomes[J].Cytogenetic and Genome Research,2005,110(1/2/3/4):307-317.
[57] SEKITA Y,WAGATSUMA H,NAKAMURA K,et al.Role of retrotransposon-derived imprinted gene,Rtl1,in the feto-maternal interface of mouse placenta[J].Nature Genetics,2008,40(2):243-248.  
[58] HERNANDEZ A,MARTINEZ M E,FIERING S,et al.Type 3 deiodinase is critical for the maturation and function of the thyroid axis[J].The Journal of Clinical Investigation,2006,116(2):476-484.  
[59] GALTON V A,MARTINEZ E,HERNANDEZ A,et al.Pregnant rat uterus expresses high levels of the type 3 iodothyronine deiodinase[J].The Journal of Clinical Investigation,1999,103(7):979-987.  
[60] NOWAK K,STEIN G,POWELL E,et al.Establishment of paternal allele-specific DNA methylation at the imprinted mouse Gtl2 locus[J].Epigenetics,2011,6(8):1012-1020.  
[61] TAKAHASHI N,OKAMOTO A,KOBAYASHI R,et al.Deletion of Gtl2,imprinted non-coding RNA,with its differentially methylated region induces lethal parent-origin-dependent defects in mice[J].Human Molecular Genetics,2009,18(10):1879-1888.  
[62] ZHOU Y L,CHEUNSUCHON P,NAKAYAMA Y,et al.Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene[J].Development,2010,137(16):2643-2652.  
[63] GORDON F E,NUTT C L,CHEUNSUCHON P,et al.Increased expression of angiogenic genes in the brains of mouse Meg3-null embryos[J].Endocrinology,2010,151(6):2443-2452.  
[64] SEITZ H,ROYO H,BORTOLIN M L,et al.A large imprinted microRNA gene cluster at the mouse Dlk1-Gtl2 domain[J].Genome Research,2004,14(9):1741-1748.  
[65] 余长威.长非编码RNA Gtl2在小鼠胚胎发育早期的表达调控及功能研究[D].硕士学位论文.哈尔滨:哈尔滨工业大学,2014.
[66] KOPPES E,HIMES K P,CHAILLET J R.Partial loss of genomic imprinting reveals important roles for Kcnq1 and Peg10 imprinted domains in placental development[J].PLoS One,2015,10(8):e0135202.
[67] 宋娜.印记基因PEG10、L3MBTL1在辅助生殖技术出生子代胎盘表达的研究[D].硕士学位论文.郑州:郑州大学,2014.
[68] CHEN S L,SHI X Y,ZHENG H Y,et al.Aberrant DNA methylation of imprinted H19 gene in human preimplantation embryos[J].Fertility and Sterility,2010,94(6):2356-2358.  
[69] 楼航英.ART对人早孕期胎儿印记基因表达和修饰的影响及其对出生儿血脂代谢改变及相关机制研究[D].博士学位论文.杭州:浙江大学,2013.
[70] LUX A,BEIL C,MAJETY M,et al.Human retroviral gag-and gag-pol-like proteins interact with the transforming growth factor-β receptor activin receptor-like kinase 1[J].Journal of Biological Chemistry,2005,280(9):8482-8493.  
[71] PERNA F,GURVICH N,HOYA-ARIAS R,et al.Depletion of L3MBTL1 promotes the erythroid differentiation of human hematopoietic progenitor cells:possible role in 20q-polycythemia vera[J].Blood,2010,116(15):2812-2821.  
[72] CHOPRA M,AMOR D J,SUTTON L,et al.Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection[J].Reproductive Biomedicine Online,2010,20(6):843-847.  
[73] RIESEWIJK A M,HU L D,SCHULZ U,et al.Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses[J].Genomics,1997,42(2):236-244.  
[74] NAKABAYASHI K,BENTLEY L,HITCHINS M P,et al.Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32[J].Human Molecular Genetics,2002,11(15):1743-1756.  
[75] BELHARAZEM D,KUNANZ J,HENNE A K,et al.Loss of imprinting of insulin-like growth factor-2(IGF2) in colon carcinomas leads to the cell cycle genes activation-hints to intense proliferation[C]//Virchows Archive.New York:Springer,2012,461:S29.
[76] 王颖.异常出生体重胎儿胎盘印记基因PEG1与PEG3的表达与启动子区甲基化及意义[D].硕士学位论文.沈阳:中国医科大学,2010.
[77] MCMINN J,WEI M,SCHUPF N,et al.Unbalanced placental expression of imprinted genes in human intrauterine growth restriction[J].Placenta,2006,27(6/7):540-549.
[78] SHI X,HE Z,GAO Y,et al.Placental expression of PHLDA2 in selective intrauterine growth restriction in monozygotic twins[J].Placenta,2014,35(6):428-430.  
[79] NAKAMURA T,LIU Y J,NAKASHIMA H,et al.PGC7 binds histone H3K9me2 to protect against conversion of 5mC to 5hmC in early embryos[J].Nature,2012,486(7403):415-419.
[80] LIU L Z,MAO S Q,RAY C,et al.Differential regulation of genomic imprinting by TET proteins in embryonic stem cells[J].Stem Cell Research,2015,15(2):435-443.