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本文引用的文献

1
Characterization of a novel meiosis-specific protein within the central element of the synaptonemal complex.联会复合体中央元件内一种新型减数分裂特异性蛋白质的表征。
J Cell Sci. 2006 Oct 1;119(Pt 19):4025-32. doi: 10.1242/jcs.03182. Epub 2006 Sep 12.
2
Dazl can bind to dynein motor complex and may play a role in transport of specific mRNAs.Dazl可与动力蛋白运动复合体结合,并可能在特定mRNA的运输中发挥作用。
EMBO J. 2006 Sep 20;25(18):4263-70. doi: 10.1038/sj.emboj.7601304. Epub 2006 Aug 31.
3
Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men.不育男女中类无精子症缺失基因(DAZL)的新型错义突变
Reprod Biol Endocrinol. 2006 Aug 2;4:40. doi: 10.1186/1477-7827-4-40.
4
Synaptic defects at meiosis I and non-obstructive azoospermia.减数分裂I期的突触缺陷与非梗阻性无精子症
Hum Reprod. 2006 Dec;21(12):3171-7. doi: 10.1093/humrep/del281. Epub 2006 Jul 22.
5
Phosphorylation of the ARE-binding protein DAZAP1 by ERK2 induces its dissociation from DAZ.细胞外信号调节激酶2(ERK2)对富含AU元件(ARE)结合蛋白DAZAP1的磷酸化作用可诱导其与DAZ解离。
Biochem J. 2006 Oct 15;399(2):265-73. doi: 10.1042/BJ20060681.
6
C. elegans CPB-3 interacts with DAZ-1 and functions in multiple steps of germline development.秀丽隐杆线虫CPB-3与DAZ-1相互作用,并在生殖系发育的多个步骤中发挥作用。
Dev Biol. 2006 Jul 15;295(2):689-99. doi: 10.1016/j.ydbio.2006.04.002. Epub 2006 Apr 7.
7
The Caenorhabditis elegans homologue of deleted in azoospermia is involved in the sperm/oocyte switch.秀丽隐杆线虫中与无精子症缺失基因同源的基因参与精子/卵母细胞转换过程。
Mol Biol Cell. 2006 Jul;17(7):3147-55. doi: 10.1091/mbc.e05-11-1067. Epub 2006 Apr 26.
8
Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women.类无精症缺失基因(DAZL)中的变异与男性和女性的生殖参数相关。
Hum Genet. 2006 Feb;118(6):730-40. doi: 10.1007/s00439-005-0098-5. Epub 2005 Nov 22.
9
Dazl deficiency leads to embryonic arrest of germ cell development in XY C57BL/6 mice.在XY型C57BL/6小鼠中,生殖细胞特异性转录因子Dazl的缺失会导致生殖细胞发育的胚胎期停滞。
Dev Biol. 2005 Dec 15;288(2):309-16. doi: 10.1016/j.ydbio.2005.06.032. Epub 2005 Nov 28.
10
Translational regulation during oogenesis and early development: the cap-poly(A) tail relationship.卵子发生和早期发育过程中的翻译调控:帽状结构与多聚腺苷酸尾的关系
C R Biol. 2005 Oct-Nov;328(10-11):863-81. doi: 10.1016/j.crvi.2005.05.006. Epub 2005 Jun 8.

联会复合体组分Sycp3的翻译在体内被生殖细胞特异性调节因子Dazl增强。

Translation of the synaptonemal complex component Sycp3 is enhanced in vivo by the germ cell specific regulator Dazl.

作者信息

Reynolds Nicola, Collier Brian, Bingham Victoria, Gray Nicola K, Cooke Howard J

机构信息

Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, UK.

出版信息

RNA. 2007 Jul;13(7):974-81. doi: 10.1261/rna.465507. Epub 2007 May 25.

DOI:10.1261/rna.465507
PMID:17526644
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1894923/
Abstract

DAZ-related genes are essential for gametogenesis in diverse metazoa: in human males, a loss of DAZ genes is associated with infertility. These genes, expressed only in germ cells, regulate the translation of a yet undefined set of specific transcripts, and loss of function results in numerous defects throughout the mitotic and meiotic process of germ cell development. In a mouse model, absence of the autosomal Dazl gene results in a final block at zygotene of meiotic prophase. Sycp3 is also essential for meiosis, specifically for the formation of the synaptonemal complex lateral element with a mouse knockout model displaying a block in meiotic prophase similar to the Dazl knock out. Sycp3 was identified as a potential target for translational regulation by Dazl in male mouse germ cells. This was confirmed by both RNA binding and translation assays. In the Dazl knockout mouse model, Sycp3 protein levels were decreased, indicating that Dazl is required for efficient translation of the Sycp3 mRNA in vivo. Taken together these data support Sycp3 as a biologically relevant target of Dazl-mediated translation in mammals. This suggests that azoospermia associated with a decrease in DAZ gene function in humans may in part be a consequence of failure at synapsis caused by reduced levels of SYCP3 protein.

摘要

与DAZ相关的基因对于多种后生动物的配子发生至关重要:在人类男性中,DAZ基因的缺失与不育有关。这些基因仅在生殖细胞中表达,调控一组尚未明确的特定转录本的翻译,功能丧失会导致生殖细胞发育的有丝分裂和减数分裂过程中出现众多缺陷。在一个小鼠模型中,常染色体Dazl基因的缺失导致减数分裂前期偶线期的最终阻滞。Sycp3对减数分裂也至关重要,特别是对于联会复合体侧生元件的形成,一个小鼠基因敲除模型显示减数分裂前期出现阻滞,类似于Dazl基因敲除。Sycp3被确定为雄性小鼠生殖细胞中Dazl翻译调控的潜在靶点。这通过RNA结合和翻译实验得到了证实。在Dazl基因敲除小鼠模型中,Sycp3蛋白水平降低,表明Dazl是体内Sycp3 mRNA高效翻译所必需的。综合这些数据支持Sycp3作为哺乳动物中Dazl介导翻译的生物学相关靶点。这表明人类中与DAZ基因功能降低相关的无精子症可能部分是由于SYCP3蛋白水平降低导致联会失败的结果。