OMIA:002703-9823 : Semen quality, SPAG6-related in Sus scrofa (pig)
Categories: Reproductive system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 605730 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: unknown
Key variant known: no
Species-specific description: Bai et al. (2023): "SPAG6 c.900 T>C was associated with semen quality traits in Duroc, Large White and Landrace pigs, and the mutation could generate a new splice receptor site, inhibit the SPAG6 exon 7 skipping to a certain extent and reduce the expression of SPAG6-ES. Thus, the growth of Sertoli cells was promoted, and normal blood–testis barrier function was maintained."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Duroc (Pig) (VBO_0001127),
Landrace (Pig) (VBO_0001161),
Large White (Pig) (VBO_0001163).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SPAG6||sperm associated antigen 6||Sus scrofa||10||NC_010452.4 (52571977..52496457)||SPAG6||Homologene, Ensembl , NCBI gene|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2023||Bai, R., Chen, D., Xiong, H., Song, H., Wang, T., Yang, X., Tang, J., Feng, Y., Li, J., Li, F. :|
|SPAG6 c.900 T>C affects boar semen quality and blood-testis barrier function by creating a new splice acceptor site. Anim Genet , 2023. Pubmed reference: 37211688. DOI: 10.1111/age.13330.|
|2015||Fischer, D., Laiho, A., Gyenesei, A., Sironen, A. :|
|Identification of reproduction-related gene polymorphisms using whole transcriptome sequencing in the Large White pig population. G3 (Bethesda) 5:1351-60, 2015. Pubmed reference: 25917919. DOI: 10.1534/g3.115.018382.|
|Song, H., Zhu, L., Li, Y., Ma, C., Guan, K., Xia, X., Li, F. :|
|Exploiting RNA-sequencing data from the porcine testes to identify the key genes involved in spermatogenesis in Large White pigs. Gene 573:303-9, 2015. Pubmed reference: 26192463. DOI: 10.1016/j.gene.2015.07.057.|
- Created by Imke Tammen2 on 23 May 2023