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UBR2 mediates transcriptional silencing during spermatogenesis via histone ubiquitination.UBR2 通过组蛋白泛素化在精子发生过程中介导转录沉默。
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UBR2 基因中的单核苷酸多态性可能是导致日本不育症患者减数分裂阻滞的遗传风险因素。

Single nucleotide polymorphism in the UBR2 gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest.

机构信息

Department of Obstetrics and Gynecology, Asahikawa Medical University, Asahikawa, Japan.

出版信息

J Assist Reprod Genet. 2011 Aug;28(8):743-6. doi: 10.1007/s10815-011-9576-y. Epub 2011 May 4.

DOI:10.1007/s10815-011-9576-y
PMID:21573678
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3170112/
Abstract

PURPOSE

To investigate the association between the UBR2 gene and the risk of azoospermia caused by meiotic arrest.

METHODS

Mutational analysis of the UBR2 gene was performed using DNA from 30 patients with azoospermia by meiotic arrest to 80 normal controls.

RESULTS

The genotypic and allelic frequencies of c.1,066A>T variant were significantly higher in patient than control groups (p < 0.001).

CONCLUSION

The c.1,066A>T variant in the UBR2 gene is associated with increased susceptibility to azoospermia caused by meiotic arrest.

摘要

目的

探讨 UBR2 基因与减数分裂阻滞导致的无精子症风险的关系。

方法

对 30 名减数分裂阻滞导致的无精子症患者和 80 名正常对照的 UBR2 基因进行 DNA 突变分析。

结果

患者组中 c.1,066A>T 变异的基因型和等位基因频率显著高于对照组（p<0.001）。

结论

UBR2 基因的 c.1,066A>T 变异与减数分裂阻滞导致的无精子症易感性增加相关。