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TBL1XR1缺乏会导致弱精子症。

Deficiency of TBL1XR1 causes asthenozoospermia.

作者信息

Zhou Qiao, Xu Miaofei, Wang Xin, Yu Mingming, Chen Xiaojiao, Lu Jing, Zhou Ran, Zhang Junqiang, Ling Xiufeng, Ji Juan

机构信息

The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.

Cellular and Molecular Pathology Branch, National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.

出版信息

Andrologia. 2021 Apr;53(3):e13980. doi: 10.1111/and.13980. Epub 2021 Feb 2.

DOI:10.1111/and.13980
PMID:33528066
Abstract

Transducin (β)-like 1 X-linked receptor 1 (TBL1XR1) is an evolutionarily conserved protein related to spermatozoa. To clarify its role and mechanism of action in spermatozoa, qRT-PCR was used to analyse the expression of TBL1XR1 in human spermatozoa and mouse testes. The mice were established as an animal model by injecting the mice testes with small interfering RNA against TBL1XR1 or control siRNA. Our results indicated that deficiency of TBL1XR1 in mice reduced the motility of spermatozoa and disrupted the histone-to-protamine transition. We also found the decreased expression of TBL1XR1 in the spermatozoa of human patients with asthenozoospermia (AZ) compared with that in the spermatozoa of healthy males. Moreover, we carried out chromatin immunoprecipitation analyses and found that genes downstream of TBL1XR1 were related to sperm motility. Thus, TBL1XR1 might be related to sperm motility and might function through its downstream genes. Our data highlight the role of TBL1XR1 involved in spermatozoa and provide new molecular insights into the intricate systems required for male fertility.

摘要

转导素(β)样 1 X 连锁受体 1(TBL1XR1)是一种与精子相关的进化保守蛋白。为阐明其在精子中的作用及作用机制,采用 qRT-PCR 分析 TBL1XR1 在人类精子和小鼠睾丸中的表达。通过向小鼠睾丸注射针对 TBL1XR1 的小干扰 RNA 或对照 siRNA 建立动物模型。我们的结果表明,小鼠中 TBL1XR1 的缺失降低了精子活力并破坏了组蛋白向鱼精蛋白的转变。我们还发现,与健康男性精子相比,弱精子症(AZ)患者精子中 TBL1XR1 的表达降低。此外,我们进行了染色质免疫沉淀分析,发现 TBL1XR1 下游的基因与精子活力相关。因此,TBL1XR1 可能与精子活力相关,并可能通过其下游基因发挥作用。我们的数据突出了 TBL1XR1 在精子中的作用,并为男性生育所需的复杂系统提供了新的分子见解。

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An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.
皮尔彭特综合征动物模型:携带 Tbl1xr1Y446C/Y446C 突变的小鼠。
Hum Mol Genet. 2022 Aug 25;31(17):2951-2963. doi: 10.1093/hmg/ddac086.
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Clin Epigenetics. 2021 May 1;13(1):101. doi: 10.1186/s13148-021-01088-4.