Sohlh1, spermatogenesis- and oogenesis-specific helix-loop-helix transcription factor 1, is a gene encoding a transcription factor mainly expressed in the male and female germline. It regulates germline differentiation and is involved in pathways related to spermatogonial differentiation, oocyte growth, and meiosis [1,2,4,5,6]. Genetic mouse models are valuable for studying its function.

In Sohlh1 knockout mice, both male and female infertility occurs. In males, there are meiotic defects at the zygotene stage during spermatogenesis, failure of synaptonemal complex formation due to reduced expression of Sycp1 and Sycp3, and disrupted spermatogonial differentiation into spermatocytes. In females, there is hypergonadotropic hypogonadism, loss of ovarian function, abnormal immune profiles in blood and ovarian tissues, and sex-specific metabolite alterations [1,2,5]. Sohlh1 also has regulatory relationships with other genes like Stra8, Kit, and is part of transcription factor networks with FIGLA, LHX8, and SOHLH2 [3,4,6,7].

In conclusion, Sohlh1 is essential for germline differentiation in both sexes. Its knockout mouse models have revealed its critical roles in male and female infertility-related conditions, as well as in influencing overall health beyond gonadal dysfunction [1].

References:

1. Rodríguez-Escribà, Marta, Rodríguez-Alonso, Beatriz, Belur, Shweta, Rajkovic, Aleksandar. . Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice†. In Biology of reproduction, 108, 619-628. doi:10.1093/biolre/ioad008. https://pubmed.ncbi.nlm.nih.gov/36723967/

2. Li, Yuan, Qi, Wanjing, Liu, Gongqing, Liu, Jia, Zheng, Zhihong. 2019. Sohlh1 is required for synaptonemal complex formation by transcriptionally regulating meiotic genes during spermatogenesis in mice. In Molecular reproduction and development, 86, 252-264. doi:10.1002/mrd.23100. https://pubmed.ncbi.nlm.nih.gov/30614095/

3. Desimio, M G, Campolo, F, Dolci, S, De Felici, M, Farini, D. . SOHLH1 and SOHLH2 directly down-regulate STIMULATED BY RETINOIC ACID 8 (STRA8) expression. In Cell cycle (Georgetown, Tex.), 14, 1036-45. doi:10.1080/15384101.2015.1007721. https://pubmed.ncbi.nlm.nih.gov/25603532/

4. Suzuki, Hitomi, Ahn, Hyo Won, Chu, Tianjiao, Orwig, Kyle, Rajkovic, Aleksandar. 2011. SOHLH1 and SOHLH2 coordinate spermatogonial differentiation. In Developmental biology, 361, 301-12. doi:10.1016/j.ydbio.2011.10.027. https://pubmed.ncbi.nlm.nih.gov/22056784/

5. Ballow, D, Meistrich, M L, Matzuk, M, Rajkovic, A. 2006. Sohlh1 is essential for spermatogonial differentiation. In Developmental biology, 294, 161-7. doi:. https://pubmed.ncbi.nlm.nih.gov/16564520/

6. Wang, Zhengpin, Liu, Chen-Yu, Zhao, Yangu, Dean, Jurrien. . FIGLA, LHX8 and SOHLH1 transcription factor networks regulate mouse oocyte growth and differentiation. In Nucleic acids research, 48, 3525-3541. doi:10.1093/nar/gkaa101. https://pubmed.ncbi.nlm.nih.gov/32086523/

7. Barrios, Florencia, Filipponi, Doria, Campolo, Federica, Jannini, Emmanuele A, Dolci, Susanna. 2012. SOHLH1 and SOHLH2 control Kit expression during postnatal male germ cell development. In Journal of cell science, 125, 1455-64. doi:10.1242/jcs.092593. https://pubmed.ncbi.nlm.nih.gov/22328502/