TEX11, Testis-expressed gene 11, is an X-linked meiosis-specific gene essential for meiotic recombination and chromosomal synapsis during spermatogenesis [1,2,3,4,5,7]. It is also involved in regulating germ cell proliferation, potentially through competing with estrogen receptor β for binding to HPIP [6]. Understanding TEX11 is crucial for deciphering male infertility mechanisms, and genetic models like mouse models are valuable tools for its study.

In infertile men, especially those with non-obstructive azoospermia (NOA), numerous TEX11 mutations have been identified. These include novel mutations such as exon 5 c.313C>T: p.R105*, exon 7 c.427A>C: p.K143Q, exon 29 c.2575G>A: p.G859R [1], and 2653G→T (W856C) [2], among others [3,5,7]. In a patient with a c.151_154del (p.D51fs) frameshift mutation in TEX11, immunohistochemical analysis showed lack of TEX11 expression in testes and meiotic arrest [3]. Mouse models have further shown that TEX11 alleles can modulate genome-wide recombination rates, and an intronless autosomal Tex11 transgene can functionally substitute for the X-linked Tex11 gene [4].

In conclusion, TEX11 is vital for normal spermatogenesis, with its mutations closely associated with male infertility, particularly NOA. Mouse models have been instrumental in revealing its role in meiotic recombination, chromosomal synapsis, and genome-wide recombination rate regulation, providing insights into the genetic basis of male infertility [1,2,3,4,5,7].

References:

1. Song, Jian, Sha, Yanwei, Liu, Xiaojun, Zeng, Xuhui, Zhao, Xiuling. 2023. Novel mutations of TEX11 are associated with non-obstructive azoospermia. In Frontiers in endocrinology, 14, 1159723. doi:10.3389/fendo.2023.1159723. https://pubmed.ncbi.nlm.nih.gov/37124723/

2. Sha, Yanwei, Zheng, Liangkai, Ji, Zhiyong, Yang, Xiaoyu, Li, Ping. 2018. A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review. In BMC medical genetics, 19, 63. doi:10.1186/s12881-018-0570-4. https://pubmed.ncbi.nlm.nih.gov/29661171/

3. Yu, Xiao-Chen, Li, Meng-Jing, Cai, Fei-Fei, Liu, Hong-Bin, Zhang, Hao-Bo. . A new TEX11 mutation causes azoospermia and testicular meiotic arrest. In Asian journal of andrology, 23, 510-515. doi:10.4103/aja.aja_8_21. https://pubmed.ncbi.nlm.nih.gov/33762476/

4. Yang, Fang, Silber, Sherman, Leu, N Adrian, Page, David C, Wang, P Jeremy. . TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse. In EMBO molecular medicine, 7, 1198-210. doi:10.15252/emmm.201404967. https://pubmed.ncbi.nlm.nih.gov/26136358/

5. Ji, Zhiyong, Yao, Chencheng, Yang, Chao, Zhou, Zhi, Li, Zheng. 2021. Novel Hemizygous Mutations of TEX11 Cause Meiotic Arrest and Non-obstructive Azoospermia in Chinese Han Population. In Frontiers in genetics, 12, 741355. doi:10.3389/fgene.2021.741355. https://pubmed.ncbi.nlm.nih.gov/34621296/

6. Yu, Yueh-Hsiang, Siao, Fong-Ping, Hsu, Lea Chia-Ling, Yen, Pauline H. 2012. TEX11 modulates germ cell proliferation by competing with estrogen receptor β for the binding to HPIP. In Molecular endocrinology (Baltimore, Md.), 26, 630-42. doi:10.1210/me.2011-1263. https://pubmed.ncbi.nlm.nih.gov/22383461/

7. Yatsenko, Alexander N, Georgiadis, Andrew P, Röpke, Albrecht, Schlatt, Stefan, Tüttelmann, Frank. 2015. X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. In The New England journal of medicine, 372, 2097-107. doi:10.1056/NEJMoa1406192. https://pubmed.ncbi.nlm.nih.gov/25970010/