减数分裂联会复合体异常与不孕不育相关性研究进展

doi:10.16288/j.yczz.21-319

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Hereditas(Beijing) ›› 2021, Vol. 43 ›› Issue (12): 1142-1148.doi: 10.16288/j.yczz.21-319

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Progress on the correlation between the abnormal synaptonemal complex and infertility

Hui Nie(), Yiwen Zhang, Jianing Li, Nannan Wang, Lan Xu

College of Life Sciences, Shandong Normal University, Jinan 250014, China

Received:2021-09-06 Revised:2021-10-23 Online:2021-12-20 Published:2021-11-24
Contact: Nie Hui E-mail:niehui@sdnu.edu.cn
Supported by:
Supported by the Natural Science Foundation of Shandong Province No(ZR2019PC050);the Innovation and Entrepreneurship Training Program of Shandong Normal University No(S202010445162)

Abstract

Abstract:

Meiosis, the process of producing haploid gametes from diploid germ cells, acts as the core of sexual reproduction. The synaptonemal complex (SC) is a complex structure formed between homologous chromosomes, which can stabilize the pairing of homologous chromosomes and promote the formation of genetic crossover. More and more evidence suggested that the abnormal synaptonemal complex is closely associated with human infertility. In this review, we summarize the correlation between aberrant central region (CR) components (such as SYCE1/2/3, TEX12, SIX6OS1, SYCP1 mutations ) or lateral elements (LE) (such as SYCP2, SYCP3 mutations) and infertility, in order to provide references for further understanding of the pathological mechanisms underlying reproductive health problems caused by meiotic errors.

Key words: meiosis, synaptonemal complex, infertility

Hui Nie, Yiwen Zhang, Jianing Li, Nannan Wang, Lan Xu. Progress on the correlation between the abnormal synaptonemal complex and infertility[J]. Hereditas(Beijing), 2021, 43(12): 1142-1148.

Figures/Tables 2

References 42

[1]	Szamatowicz M, Szamatowicz J. Proven and unproven methods for diagnosis and treatment of infertility. Adv Med Sci, 2020,65(1):93-96.
[2]	Gheldof A, Mackay DJG, Cheong Y, Verpoest W. Genetic diagnosis of subfertility: the impact of meiosis and maternal effects. J Med Genet, 2019,56(5):271-282.
[3]	Bala R, Singh V, Rajender S, Singh K. Environment, lifestyle, and female infertility. Reprod Sci, 2021,28(3):617-638.
[4]	Kulkarni DS, Owens SN, Honda M, Ito M, Yang Y, Corrigan M W, Chen L, Quan A L, Hunter N. PCNA activates the MutLγ endonuclease to promote meiotic crossing over. Nature, 2020,586(7830):623-627.
[5]	Biswas L, Tyc K, El Yakoubi W, Morgan K, Xing JC, Schindler K. Meiosis interrupted: the genetics of female infertility via meiotic failure. Reproduction, 2021,161(2):R13-r35.
[6]	Xie WJ, Shi DY, Cai ZX, Chen XY, Jin WW. Organization, function and genetic controlling of synaptonemal complex. Hereditas(Beijing), 2012,34(2):167-176.
	谢文军, 史典义, 蔡泽熙, 陈晓阳, 金危危. 联会复合体的组成、功能及遗传控制. 遗传, 2012,34(2):167-176.
[7]	Rog O, Köhler S, Dernburg AF. The synaptonemal complex has liquid crystalline properties and spatially regulates meiotic recombination factors. eLife, 2017,6:e21455.
[8]	Bolcun-Filas E, Handel M A. Meiosis: the chromosomal foundation of reproduction. Biol Reprod, 2018,99(1):112-126.
[9]	Láscarez-Lagunas L, Martinez-Garcia M, Colaiácovo M. SnapShot: meiosis-prophase I. Cell, 2020, 181(6): 1442-1442.e1.
[10]	Handel MA, Schimenti JC. Genetics of mammalian meiosis: regulation, dynamics and impact on fertility. Nat Rev Genet, 2010,11(2):124-136.
[11]	Tyc KM, Mccoy RC, Schindler K, Xing JC. Mathematical modeling of human oocyte aneuploidy. Proc Natl Acad Sci USA, 2020,117(19):10455-10464.
[12]	Gao JM, Colaiácovo MP. Zipping and unzipping: protein modifications regulating synaptonemal complex dynamics. Trends Genet, 2018,34(3):232-245.
[13]	Fraune J, Brochier-Armanet C, Alsheimer M, Volff JN, Schücker K, Benavente R. Evolutionary history of the mammalian synaptonemal complex. Chromosoma, 2016,125(3):355-360.
[14]	Zwettler FU, Spindler MC, Reinhard S, Klein T, Kurz A, Benavente R, Sauer M. Tracking down the molecular architecture of the synaptonemal complex by expansion microscopy. Nat Commun, 2020,11(1):3222.
[15]	Hurlock M E, Čavka I, Kursel LE, Haversat J, Wooten M, Nizami Z, Turniansky R, Hoess P, Ries J, Gall JG, Rog O, Köhler S, Kim Y. Identification of novel synaptonemal complex components in C. elegans. J Cell Biol, 2020,219(5):e201910043.
[16]	Zhang ZG, Xie SB, Wang RX, Guo SQ, Zhao QC, Nie H, Liu YY, Zhang FG, Chen M, Liu LB, Meng XQ, Liu M, Zhao L, Colaiácovo MP, Zhou J, Gao JM. Multivalent weak interactions between assembly units drive synaptonemal complex formation. J Cell Biol, 2020,219(5):e201910086.
[17]	Geisinger A, Benavente R. Mutations in genes coding for synaptonemal complex proteins and their impact on human fertility. Cytogenet Genome Res, 2016,150(2):77-85.
[18]	Bolcun-Filas E, Hall E, Speed R, Taggart M, Grey C, De Massy B, Benavente R, Cooke HJ. Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repair. PLoS Genet, 2009,5(2):e1000393.
[19]	Maor-Sagie E, Cinnamon Y, Yaacov B, Shaag A, Goldsmidt H, Zenvirt S, Laufer N, Richler C, Frumkin A. Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia. J Assist Reprod Genet, 2015,32(6):887-891.
[20]	Pashaei M, Rahimi Bidgoli MM, Zare-Abdollahi D, Najmabadi H, Haji-Seyed-Javadi R, Fatehi F, Alavi A. The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia. J Assist Reprod Genet, 2020,37(2):451-458.
[21]	De Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. J Clin Endocrinol Metab, 2014,99(10):E2129-2132.
[22]	Zhe J, Ye DS, Chen X, Liu YD, Zhou XY, Li Y, Zhang J, Chen SL. Consanguineous Chinese familial study reveals that a gross deletion that includes the SYCE1 gene region is associated with premature ovarian insufficiency. Reprod Sci, 2020,27(2):461-467.
[23]	Sánchez-Sáez F, Gómez-H L, Dunne OM, Gallego-Páramo C, Felipe-Medina N, Sánchez-Martín M, Llano E, Pendas A M, Davies O R. Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility. Sci Adv, 2020, 6(36): eabb1660.
[24]	Costa Y, Speed R, Ollinger R, Alsheimer M, Semple C A, Gautier P, Maratou K, Novak I, Höög C, Benavente R, Cooke H J. Two novel proteins recruited by synaptonemal complex protein 1 (SYCP1) are at the centre of meiosis. J Cell Sci, 2005,118(Pt 12):2755-2762.
[25]	Bolcun-Filas E, Costa Y, Speed R, Taggart M, Benavente R, De Rooij DG, Cooke HJ. SYCE2 is required for synaptonemal complex assembly, double strand break repair, and homologous recombination. J Cell Biol, 2007,176(6):741-747.
[26]	Schramm S, Fraune J, Naumann R, Hernandez-Hernandez A, Höög C, Cooke HJ, Alsheimer M, Benavente R. A novel mouse synaptonemal complex protein is essential for loading of central element proteins, recombination, and fertility. PLoS Genet, 2011,7(5):e1002088.
[27]	Hamer G, Wang H, Bolcun-Filas E, Cooke H J, Benavente R, Höög C. Progression of meiotic recombination requires structural maturation of the central element of the synaptonemal complex. J Cell Sci, 2008,121(Pt 15):2445-2451.
[28]	Boroujeni P B, Sabbaghian M, Totonchi M, Sodeifi N, Sarkardeh H, Samadian A, Sadighi-Gilani MA, Gourabi H. Expression analysis of genes encoding TEX11, TEX12, TEX14 and TEX15 in testis tissues of men with non-obstructive azoospermia. JBRA Assist Reprod, 2018,22(3):185-192.
[29]	Gómez-H L, Felipe-Medina N, Sánchez-Martín M, Davies OR, Ramos I, García-Tuñón I, De Rooij DG, Dereli I, Tóth A, Barbero JL, Benavente R, Llano E, Pendas AM. C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility. Nat Commun, 2016,7:13298.
[30]	Fan SX, Jiao YY, Khan R, Jiang XH, Javed AR, Ali A, Zhang H, Zhou JT, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan HY, Zhang XX, Ma H, Jiang HW, Ali H, Dil S, Shah W, Ahmad N, Zhang YW, Shi QH. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Am J Hum Genet, 2021,108(2):324-336.
[31]	Dunce JM, Dunne OM, Ratcliff M, Millán C, Madgwick S, Usón I, Davies OR. Structural basis of meiotic chromosome synapsis through SYCP1 self-assembly. Nat Struct Mol Biol, 2018,25(7):557-569.
[32]	De Vries FAT, De Boer E, Van Den Bosch M, Baarends WM, Ooms M, Yuan L, Liu JG, Van Zeeland AA, Heyting C, Pastink A. Mouse Sycp1 functions in synaptonemal complex assembly, meiotic recombination, and XY body formation. Genes Dev, 2005,19(11):1376-1389.
[33]	Yang F, De La Fuente R, Leu NA, Baumann C, Mclaughlin K J, Wang P J. Mouse SYCP2 is required for synaptonemal complex assembly and chromosomal synapsis during male meiosis. J Cell Biol, 2006,173(4):497-507.
[34]	Yuan L, Liu JG, Zhao J, Brundell E, Daneholt B, Höög C. The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility. Mol Cell, 2000,5(1):73-83.
[35]	Wang H, Höög C. Structural damage to meiotic chromosomes impairs DNA recombination and checkpoint control in mammalian oocytes. J Cell Biol, 2006,173(4):485-495.
[36]	Roeder GS, Bailis JM. The pachytene checkpoint. Trends Genet, 2000,16(9):395-403.
[37]	Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang SZ, Kliesch S, Talkowski ME, Tüttelmann F, Macqueen AJ, Morton CC. SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. Am J Hum Genet, 2020,106(1):41-57.
[38]	Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ. Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet, 2003,362(9397):1714-1719.
[39]	Bolor H, Mori T, Nishiyama S, Ito Y, Hosoba E, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Kato T, Tong MQ, Nishizawa H, Pryor-Koishi K, Kitaoka E, Sawada T, Nishiyama Y, Udagawa Y, Kurahashi H. Mutations of the SYCP3 gene in women with recurrent pregnancy loss. Am J Hum Genet, 2009,84(1):14-20.
[40]	Sazegari A, Kalantar SM, Pashaiefar H, Mohtaram S, Honarvar N, Feizollahi Z, Ghasemi N. The T657C polymorphism on the SYCP3 gene is associated with recurrent pregnancy loss. J Assist Reprod Genet, 2014,31(10):1377-1381.
[41]	Mizutani E, Suzumori N, Ozaki Y, Oseto K, Yamada-Namikawa C, Nakanishi M, Sugiura-Ogasawara M. SYCP3 mutation may not be associated with recurrent miscarriage caused by aneuploidy. Hum Reprod, 2011,26(5):1259-1266.
[42]	Liu HB, Huang T, Li MJ, Li M, Zhang CX, Jiang J, Yu XC, Yin YY, Zhang F, Lu G, Luo MC, Zhang LR, Li JS, Liu K, Chen ZJ. SCRE serves as a unique synaptonemal complex fastener and is essential for progression of meiosis prophase I in mice. Nucleic Acids Res, 2019,47(11):5670-5683.

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名称	SC位置	突变致小鼠表型	突变致人类疾病	参考文献
SYCE1	CR	雄性、雌性均不育	NOA、POI	[18~23]
SYCE2	CR	雄性、雌性均不育	/	[24,25]
SYCE3	CR	雄性、雌性均不育	/	[26]
TEX12	CR	雄性、雌性均不育	NOA	[27,28]
SIX6OS1	CR	雄性、雌性均不育	NOA、POI	[29,30]
SYCP1	CR	雄性、雌性均不育	/	[31,32]
SYCP2	LE	雄性不育,雌性生殖力降低	男性不育	[33,37]
SYCP3	LE	雄性不育,雌性生殖力降低	NOA、RPL (存在争议)	[34,38~41]

Progress on the correlation between the abnormal synaptonemal complex and infertility

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