Tomm20l is a gene with its function not comprehensively elucidated. However, it has been identified as a testis-enriched gene. Testis-enriched genes play important roles in sperm formation, function, and male fertility. Genetic models, such as knockout (KO) mice, are powerful tools to study its function [1].

In a study generating KO mice for 12 testis-enriched genes including Tomm20l using the CRISPR/Cas9 system, it was found that these genes, when individually ablated, are not essential for male fertility, suggesting that Tomm20l alone may not be crucial for male fertility in mice [1]. In another study focused on major depressive disorder (MDD), Tomm20l was identified as one of the deregulated genes potentially related to MDD. The in-vitro validation result of Tomm20l was consistent with the bioinformatics analysis, indicating its possible role as a potential pathological factor in MDD [2].

In conclusion, Tomm20l, as a testis-enriched gene, does not seem to be essential for male fertility based on KO mouse models. Also, its deregulation might be associated with MDD, highlighting its potential importance in understanding the pathogenesis of MDD. These findings from model-based research contribute to a better understanding of the biological functions of Tomm20l and its implications in male fertility and mental disorders.

References:

1. Oyama, Yuki, Miyata, Haruhiko, Shimada, Keisuke, Matzuk, Martin M, Ikawa, Masahito. . CRISPR/Cas9-mediated genome editing reveals 12 testis-enriched genes dispensable for male fertility in mice. In Asian journal of andrology, 24, 266-272. doi:10.4103/aja.aja_63_21. https://pubmed.ncbi.nlm.nih.gov/34290169/

2. Feng, Jianfei, Zhou, Qing, Gao, Wenquan, Wu, Yanying, Mu, Ruibin. 2019. Seeking for potential pathogenic genes of major depressive disorder in the Gene Expression Omnibus database. In Asia-Pacific psychiatry : official journal of the Pacific Rim College of Psychiatrists, 12, e12379. doi:10.1111/appy.12379. https://pubmed.ncbi.nlm.nih.gov/31889427/