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.
Reference
| 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