Tmprss9, also known as polyserase-1, is a type II transmembrane serine protease. It has a complex molecular architecture with three tandem serine protease domains. Tmprss9 may be involved in various biological processes, such as the uPA/plasmin-mediated proteolysis which could be related to fibrinolysis and tumour progression [4]. It might also play a role in pathways related to cell invasion, adhesion, and growth as seen in pancreatic cancer cells [1]. Genetic models, like mouse models, can be valuable in further elucidating its functions.

A study generating a Tmprss9 knockout mouse model found that Tmprss9-/-mice showed decreased social interest and social recognition, suggesting a relation between Tmprss9 loss-of-function and autism spectrum disorder [2]. In non-obstructive azoospermia patients, a consanguineous carrier with a reciprocal translocation had two deleterious homozygous variants in Tmprss9, indicating its possible role in testicular meiotic arrest [3].

In conclusion, Tmprss9 appears to be involved in multiple biological processes, with its loss-of-function potentially related to autism spectrum disorder and spermatogenesis-related issues. Mouse models have been instrumental in revealing these roles, contributing to our understanding of these specific disease areas.

References:

1. Fontanil, Tania, Mohamedi, Yamina, Esteban, Manuel M, Obaya, Alvaro J, Cal, Santiago. 2014. Polyserase-1/TMPRSS9 induces pro-tumor effects in pancreatic cancer cells by activation of pro-uPA. In Oncology reports, 31, 2792-6. doi:10.3892/or.2014.3146. https://pubmed.ncbi.nlm.nih.gov/24756697/

2. Chen, Chun-An, Pal, Rituraj, Yin, Jiani, Zoghbi, Huda Y, Schaaf, Christian P. . Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. In Human molecular genetics, 29, 459-470. doi:10.1093/hmg/ddz305. https://pubmed.ncbi.nlm.nih.gov/31943016/

3. Ghieh, Farah, Barbotin, Anne-Laure, Prasivoravong, Julie, Marcelli, François, Vialard, François. 2021. Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended? In Basic and clinical andrology, 31, 27. doi:10.1186/s12610-021-00145-5. https://pubmed.ncbi.nlm.nih.gov/34758722/

4. Okumura, Yuushi, Hayama, Masaki, Takahashi, Etsuhisa, Yano, Mihiro, Kido, Hiroshi. . Serase-1B, a new splice variant of polyserase-1/TMPRSS9, activates urokinase-type plasminogen activator and the proteolytic activation is negatively regulated by glycosaminoglycans. In The Biochemical journal, 400, 551-61. doi:. https://pubmed.ncbi.nlm.nih.gov/16872279/