精子DNA甲基化研究现状
|
摘要
目的:DNA甲基化是表观遗传学研究中的一项重要内容,最近研究发现,甲基化与去甲基化的正确调控对精子的产生和个体的正常发育起至关重要作用。随着对男性不育症更加深入的认识,从DNA甲基化探讨男性不育症的发病机制逐渐成为研究方向。文章通过总结近年来精子的产生过程中DNA甲基化的相关研究进展,探讨男性不育症尤其是特发性不育症与DNA甲基化之间的关联性,旨在进一步阐述特发性不育症的发生机制,为临床治疗提供新的思路。
DNA methylation is a major epigenetic modification of the genome. In recent years, some studies have found that the correct regulation of methylation and demethylation is important for the occurrence of sperm and the normal development of individuals. With the further knowing the male infertility, the study on the pathogenesis of male infertility from DNA methylation has gradually become hot research direction. In order to further clarify the mechanism of male infertility and to provide new clinical ideas for the treatment of male infertility, this paper discusses the correlation of male infertility, especially idiopathic male infertility with the DNA methylation by summarizing the recent advances in DNA methylation related research in spermatogenesis.
DNA methylation is a major epigenetic modification of the genome. In recent years, some studies have found that the correct regulation of methylation and demethylation is important for the occurrence of sperm and the normal development of individuals. With the further knowing the male infertility, the study on the pathogenesis of male infertility from DNA methylation has gradually become hot research direction. In order to further clarify the mechanism of male infertility and to provide new clinical ideas for the treatment of male infertility, this paper discusses the correlation of male infertility, especially idiopathic male infertility with the DNA methylation by summarizing the recent advances in DNA methylation related research in spermatogenesis.
引文
[1] GUO Jun.Thoughts and approaches of integrated Chinese and Western Medicine for the treatment of Oligo-astheno-teratozoospermia[J].Chin J Integr Med,2018,24(7):483-486.
[2] Pereira R,Sa R,Barros A,et al.Major regulatory mechanisms involved in sperm Motility[J].Asian J Androl,2017,19(1):5-14.
[3] Montjean D,Zini A,Ravel C,et al.Sperm global DNA methylation level:association with semen parameters and genome integrity[J].Andrology,2015,3(2):235-240.
[4] 马国燕,卢静,张秀青.精子表观遗传缺陷与男性不育相关性的研究进展[J].中国计划生育学杂志,2016,24(5):352-354.
[5] Jenkins TG,Aston KI,Meyer TD,et al.Decreased fecundity and sperm DNA methylation patterns[J].Fertil Steril,2016,105(1):51-57.
[6] Qiuqin Tang,Yiqiu Chen,Wei Wu,eta l.Idiopathic male infertility and polymorphisms in the DNA methyltransferase genes involved in epigenetic marking[J].Sci Rep,2017,7:11219.
[7] Gunes S,Arslan MA,Hekim GNT,et al.The role of epigenetics in idiopathic male infertility[J].J Assist Reprod Genet,2016,33(5):553-569.
[8] Erkek S,Hisano M,Liang CY,et al.Molecular determinants of nucleosome retention at CpG-rich sequences in mouse spermatozoa[J].Nat Struct Mol Biol,2013,20(7):868-875.
[9] Hiura H,Okae H,Chiba H,et al.Imprinting methylation errors in ART[J].Reprod Med Biol,2014,13(4):193-202.
[10] 黄荷凤,陈露婷.辅助生殖与表观遗传[J].中国计划生育学杂志,2017,25(4):220-222.
[11] Koerner MV,Barlow DP.Genomic impringting-an epigenetic gene-regulatory model[J].Curr Opin Genet Dev,2010,20(2):164-170.
[12] Castel SE,Martienssen RA.RNA interference in the nucleus:roles for small RNAs in transcription,epigenetics and beyond[J].Nat Rev Genet,2013,14(2):100-112.
[13] Skinner MK,Guerrero-Bosagna C.Role of CpG deserts in the epigenetic transgenerational inheritance of differential DNA methylation regions[J].BMC Genomics,2014,15:692.
[14] Kalish JM,Jiang C ,Bartolomei MS.Epigenetics and imprinting in human disease[J].Int J Dev Biol,2014,58(2-4):291-298.
[15] Vidal AC,Henry NM,Murphy SK,et al.PEGl/MEST and IGF2 DNA methyla}ion in CIN and in cervical cancer[J].Clin Transl Oncol,2014,16(3):266-272.
[16] Klaver R,Tuttelmann F,Bleiziffer A,et al.DNA methylation in spermatozoa as a prospective marker in andrology[J].Andrology,2013,1(5):731-740.
[17] Poplinski A,Tuttelmann F,Kanber D,et al.Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICRl[J].Int J Androl,2010,33(4):642-649.
[18] Botezatu A,Socolov R,Socolov D,et al.Methylation pattern of methylene tetrahydrofolate reductase and small nuclear ribonucleoprotein polypeptide N promoters in oligoasthenospermia:a case-control study[J].Reprod Biomed Online,2014,28(2):225-231.
[19] Li XP,Hao CL,Wang Q,et al.H19 gene methylation status is associated with male infertility[J].Exp Ther Med,2016,12(1):451-456.
[20] Montjean D,Zini A,Ravel C,et al.Sperm global DNA methylation level:association with semen parameters and genome integrity[J].Andrology,2015,3(2):235-240.
[21] Boissonnas CC,Abdalaoui HE,Haelewyn V,et al,Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men[J].Eur J Hum Genet,2010,18(1):73-80.
[22] 李建波,李博,梁新新,等.父源印记基因H19印记控制区域DNA甲基化与少、弱精子症相关性分析[J].中华男科学杂志,2013,19(6):511-517.
[23] 董浩,胡海翔,陈立敏,等.类型精子缺陷与印记基因H19 甲基化水平关联性研究[J].中国性科学杂志,2016,25(3):97-101.
[24] Sato A,Hiura H,Okae H,et al.Assessing loss of imprint methylation in sperm from subfertile men using novel methylation polymerase chain reaction Luminex analysis[J].Fertil Steril,2011,95(1):129-134.
[25] EI Hajj N,Zechner U,Schneider E,et al.Methylation status of imprinted genes and repetitive elements in sperm DNA from infertile males[J].Sex Dev,2011,5(2):60-69.
[26] Xu J,Zhang A,Zhang Z,et al.DNA methylation levels of imprinted and nonimprinted genes DMRs associated with defective human spermatozoa[J].Andrologia,2016,48(9):939-947.
[27] Rahiminia T,Yazd EF,Fesahat F,et al.Sperm chromatin and DNA integrity,methyltransferase mRNA levels,and global DNA methylation in oligoasthenoteratozoospermia[J].Clin Exp Reprod Med,2018,45(1):17-24.
[2] Pereira R,Sa R,Barros A,et al.Major regulatory mechanisms involved in sperm Motility[J].Asian J Androl,2017,19(1):5-14.
[3] Montjean D,Zini A,Ravel C,et al.Sperm global DNA methylation level:association with semen parameters and genome integrity[J].Andrology,2015,3(2):235-240.
[4] 马国燕,卢静,张秀青.精子表观遗传缺陷与男性不育相关性的研究进展[J].中国计划生育学杂志,2016,24(5):352-354.
[5] Jenkins TG,Aston KI,Meyer TD,et al.Decreased fecundity and sperm DNA methylation patterns[J].Fertil Steril,2016,105(1):51-57.
[6] Qiuqin Tang,Yiqiu Chen,Wei Wu,eta l.Idiopathic male infertility and polymorphisms in the DNA methyltransferase genes involved in epigenetic marking[J].Sci Rep,2017,7:11219.
[7] Gunes S,Arslan MA,Hekim GNT,et al.The role of epigenetics in idiopathic male infertility[J].J Assist Reprod Genet,2016,33(5):553-569.
[8] Erkek S,Hisano M,Liang CY,et al.Molecular determinants of nucleosome retention at CpG-rich sequences in mouse spermatozoa[J].Nat Struct Mol Biol,2013,20(7):868-875.
[9] Hiura H,Okae H,Chiba H,et al.Imprinting methylation errors in ART[J].Reprod Med Biol,2014,13(4):193-202.
[10] 黄荷凤,陈露婷.辅助生殖与表观遗传[J].中国计划生育学杂志,2017,25(4):220-222.
[11] Koerner MV,Barlow DP.Genomic impringting-an epigenetic gene-regulatory model[J].Curr Opin Genet Dev,2010,20(2):164-170.
[12] Castel SE,Martienssen RA.RNA interference in the nucleus:roles for small RNAs in transcription,epigenetics and beyond[J].Nat Rev Genet,2013,14(2):100-112.
[13] Skinner MK,Guerrero-Bosagna C.Role of CpG deserts in the epigenetic transgenerational inheritance of differential DNA methylation regions[J].BMC Genomics,2014,15:692.
[14] Kalish JM,Jiang C ,Bartolomei MS.Epigenetics and imprinting in human disease[J].Int J Dev Biol,2014,58(2-4):291-298.
[15] Vidal AC,Henry NM,Murphy SK,et al.PEGl/MEST and IGF2 DNA methyla}ion in CIN and in cervical cancer[J].Clin Transl Oncol,2014,16(3):266-272.
[16] Klaver R,Tuttelmann F,Bleiziffer A,et al.DNA methylation in spermatozoa as a prospective marker in andrology[J].Andrology,2013,1(5):731-740.
[17] Poplinski A,Tuttelmann F,Kanber D,et al.Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICRl[J].Int J Androl,2010,33(4):642-649.
[18] Botezatu A,Socolov R,Socolov D,et al.Methylation pattern of methylene tetrahydrofolate reductase and small nuclear ribonucleoprotein polypeptide N promoters in oligoasthenospermia:a case-control study[J].Reprod Biomed Online,2014,28(2):225-231.
[19] Li XP,Hao CL,Wang Q,et al.H19 gene methylation status is associated with male infertility[J].Exp Ther Med,2016,12(1):451-456.
[20] Montjean D,Zini A,Ravel C,et al.Sperm global DNA methylation level:association with semen parameters and genome integrity[J].Andrology,2015,3(2):235-240.
[21] Boissonnas CC,Abdalaoui HE,Haelewyn V,et al,Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men[J].Eur J Hum Genet,2010,18(1):73-80.
[22] 李建波,李博,梁新新,等.父源印记基因H19印记控制区域DNA甲基化与少、弱精子症相关性分析[J].中华男科学杂志,2013,19(6):511-517.
[23] 董浩,胡海翔,陈立敏,等.类型精子缺陷与印记基因H19 甲基化水平关联性研究[J].中国性科学杂志,2016,25(3):97-101.
[24] Sato A,Hiura H,Okae H,et al.Assessing loss of imprint methylation in sperm from subfertile men using novel methylation polymerase chain reaction Luminex analysis[J].Fertil Steril,2011,95(1):129-134.
[25] EI Hajj N,Zechner U,Schneider E,et al.Methylation status of imprinted genes and repetitive elements in sperm DNA from infertile males[J].Sex Dev,2011,5(2):60-69.
[26] Xu J,Zhang A,Zhang Z,et al.DNA methylation levels of imprinted and nonimprinted genes DMRs associated with defective human spermatozoa[J].Andrologia,2016,48(9):939-947.
[27] Rahiminia T,Yazd EF,Fesahat F,et al.Sperm chromatin and DNA integrity,methyltransferase mRNA levels,and global DNA methylation in oligoasthenoteratozoospermia[J].Clin Exp Reprod Med,2018,45(1):17-24.