OMIA:002632-9392 : Asthenoteratozoospermia, SSX1-related in Scandentia

In other species: crab-eating macaque

Categories: Reproductive system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 312820 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: used a non-human primate model and tree shrews, which are phylogenetically similar to primates, to knock down (KD) Ssx1 expression in the testes. Consistent with the phenotype observed in humans, both Ssx1-KD models exhibited a reduced sperm motility and abnormal sperm morphology.


2023 Liu, C., Si, W., Tu, C., Tian, S., He, X., Wang, S., Yang, X., Yao, C., Li, C., Kherraf, Z.E., Ye, M., Zhou, Z., Ma, Y., Gao, Y., Li, Y., Liu, Q., Tang, S., Wang, J., Saiyin, H., Zhao, L., Yang, L., Meng, L., Chen, B., Tang, D., Zhou, Y., Wu, H., Lv, M., Tan, C., Lin, G., Kong, Q., Shi, H., Su, Z., Li, Z., Yao, Y.G., Jin, L., Zheng, P., Ray, P.F., Tan, Y.Q., Cao, Y., Zhang, F. :
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models. Am J Hum Genet :, 2023. Pubmed reference: 36796361 . DOI: 10.1016/j.ajhg.2023.01.016.

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  • Created by Imke Tammen2 on 18 Feb 2023