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DOI10.18632/oncotarget.12397
Copy number gain of VCX, X-linked multi-copy gene, leads to cell proliferation and apoptosis during spermatogenesis
Ji, Juan1,2,4; Qin, Yufeng3; Wang, Rong5; Huang, Zhenyao1,2; Zhang, Yan1,2; Zhou, Ran1,2; Song, Ling1,2; Ling, Xiufeng4; Hu, Zhibin1,6,7; Miao, Dengshun1,5; Shen, Hongbing1,6,7; Xia, Yankai1,2; Wang, Xinru1,2; Lu, Chuncheng1,2
发表日期2016-11-29
ISSN1949-2553
卷号7期号:48页码:78532-78540
英文摘要

Male factor infertility affects one-sixth of couples worldwide, and non-obstructive azoospermia (NOA) is one of the most severe forms. In recent years there has been increasing evidence to implicate the participation of X chromosome in the process of spermatogenesis. To uncover the roles of X-linked multi-copy genes in spermatogenesis, we performed systematic analysis of X-linked gene copy number variations (CNVs) and Y chromosome haplogrouping in 447 idiopathic NOA patients and 485 healthy controls. Interestingly, the frequency of individuals with abnormal level copy of Variable charge, X-linked (VCX) was significantly different between cases and controls after multiple test correction (p = 5.10 x 10(-5)). To discriminate the effect of gain/loss copies in these genes, we analyzed the frequency of X-linked multi-copy genes in subjects among subdivided groups. Our results demonstrated that individuals with increased copy numbers of Nuclear RNA export factor 2 (NXF2) (p = 9.21 x 10(-8)) and VCX (p = 1.97 x 10(-4)) conferred the risk of NOA. In vitro analysis demonstrated that increasing copy number of VCX could upregulate the gene expression and regulate cell proliferation and apoptosis. Our study establishes a robust association between the VCX CNVs and NOA risk.


英文关键词copy number variations;non-obstructive azoospermia
语种英语
WOS记录号WOS:000389636000028
来源期刊ONCOTARGET
来源机构美国环保署
文献类型期刊论文
条目标识符http://gcip.llas.ac.cn/handle/2XKMVOVA/59368
作者单位1.Nanjing Med Univ, Inst Toxicol, State Key Lab Reprod Med, Nanjing, Jiangsu, Peoples R China;
2.Nanjing Med Univ, Sch Publ Hlth, Minist Educ, Key Lab Modern Toxicol, Nanjing, Jiangsu, Peoples R China;
3.Natl Inst Environm Hlth Sci, Epigenet & Stem Cell Biol Lab, Res Triangle Pk, NC USA;
4.Nanjing Med Univ, Nanjing Matern & Child Hlth Care Hosp, Dept Children Hlth Care, Nanjing, Jiangsu, Peoples R China;
5.Nanjing Med Univ, Dept Anat Histol & Embryol, Res Ctr Bone & Stem Cells, Nanjing, Jiangsu, Peoples R China;
6.Nanjing Med Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Nanjing, Jiangsu, Peoples R China;
7.Nanjing Med Univ, Sch Publ Hlth, Minist Educ, Key Lab Modern Toxicol, Nanjing, Jiangsu, Peoples R China
推荐引用方式
GB/T 7714
Ji, Juan,Qin, Yufeng,Wang, Rong,et al. Copy number gain of VCX, X-linked multi-copy gene, leads to cell proliferation and apoptosis during spermatogenesis[J]. 美国环保署,2016,7(48):78532-78540.
APA Ji, Juan.,Qin, Yufeng.,Wang, Rong.,Huang, Zhenyao.,Zhang, Yan.,...&Lu, Chuncheng.(2016).Copy number gain of VCX, X-linked multi-copy gene, leads to cell proliferation and apoptosis during spermatogenesis.ONCOTARGET,7(48),78532-78540.
MLA Ji, Juan,et al."Copy number gain of VCX, X-linked multi-copy gene, leads to cell proliferation and apoptosis during spermatogenesis".ONCOTARGET 7.48(2016):78532-78540.
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