OMIA:002354-9913 : Male subfertility in Bos taurus (taurine cattle)

In other species: horse , pig

Categories: Reproductive system phene

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Hiltpold et al. (2000, 20021) report several candidate genes and propose likely causal variants with an impact on male fertility in Brown Swiss cattle. Abdollahi-Arpanahi et al.(2021) "identified a set of high-impact mutations in low-fertility bulls, including nonsense, missense, and frameshift variants. Some of these mutations may be considered as strong candidate causal variants for bull subfertility.... Genes affected by these candidate causal variants include AK9, TTLL9, TCHP, and FOXN4." O’Callaghan et al. (2023) confirmed that the suspected AK9 variant is causal: see OMIA:002788-9913 : Male subfertility, AK9-related in Bos taurus for details.

Breeds: Brown Swiss (Cattle) (VBO_0000166), Holstein (black and white) (Cattle) (VBO_0000237), Japanese Black, Japan (Cattle) (VBO_0004987).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
SPATA16 spermatogenesis associated 16 Bos taurus 1 NC_037328.1 (94320195..94597863) SPATA16 Homologene, Ensembl , NCBI gene
WDR19 WD repeat domain 19 Bos taurus 6 NC_037333.1 (58350006..58428624) WDR19 Homologene, Ensembl , NCBI gene
VWA3A von Willebrand factor A domain containing 3A Bos taurus 25 NC_037352.1 (19780621..19838887) VWA3A Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002354-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 Ghoreishifar, M., Vahedi, S.M., Salek Ardestani, S., Khansefid, M., Pryce, J.E. :
Genome-wide assessment and mapping of inbreeding depression identifies candidate genes associated with semen traits in Holstein bulls. BMC Genomics 24:230, 2023. Pubmed reference: 37138201. DOI: 10.1186/s12864-023-09298-1.
Kinukawa, M., Ito, M., Uemoto, Y., Ogino, A., Haruta, S., Kurogi, K., Watanabe, T., Sasaki, S., Naniwa, Y., Uchiyama, K., Togashi, K. :
A potent allele marker related to low bull conception rate in Japanese Black bulls. Animal 17:100804, 2023. Pubmed reference: 37141635. DOI: 10.1016/j.animal.2023.100804.
Mukherjee, A., Gali, J., Kar, I., Datta, S., Roy, M., Acharya, A.P., Patra, A.K. :
Candidate genes and proteins regulating bull semen quality: a review. Trop Anim Health Prod 55:212, 2023. Pubmed reference: 37208528. DOI: 10.1007/s11250-023-03617-0.
O'Callaghan, E., Navarrete-Lopez, P., Štiavnická, M., Sánchez, J.M., Maroto, M., Pericuesta, E., Fernández-González, R., O'Meara, C., Eivers, B., Kelleher, M.M., Evans, R.D., Mapel, X.M., Lloret-Villas, A., Pausch, H., Balastegui-Alarcón, M., Avilés, M., Sanchez-Rodriguez, A., Roldan, E.R.S., McDonald, M., Kenny, D.A., Fair, S., Gutiérrez-Adán, A., Lonergan, P. :
Adenylate kinase 9 is essential for sperm function and male fertility in mammals. Proc Natl Acad Sci U S A 120:e2305712120, 2023. Pubmed reference: 37812723. DOI: 10.1073/pnas.2305712120.
Pacheco, H.A., Rossoni, A., Cecchinato, A., Peñagaricano, F. :
Identification of runs of homozygosity associated with male fertility in Italian Brown Swiss cattle. Front Genet 14:1227310, 2023. Pubmed reference: 37485336. DOI: 10.3389/fgene.2023.1227310.
Pausch, H., Mapel, X.M. :
Review: Genetic mutations affecting bull fertility. Animal 17 Suppl 1:100742, 2023. Pubmed reference: 37567657. DOI: 10.1016/j.animal.2023.100742.
Peñagaricano, F. :
Genomics and dairy bull fertility. Vet Clin North Am Food Anim Pract , 2023. Pubmed reference: 37669889. DOI: 10.1016/j.cvfa.2023.08.005.
Tan, W.L.A., Neto, L.R.P., Reverter, A., McGowan, M., Fortes, M.R.S. :
Sequence level genome-wide associations for bull production and fertility traits in tropically adapted bulls. BMC Genomics 24:365, 2023. Pubmed reference: 37386436. DOI: 10.1186/s12864-023-09475-2.
2021 Abdollahi-Arpanahi, R., Pacheco, H.A., Peñagaricano, F. :
Targeted sequencing reveals candidate causal variants for dairy bull subfertility Anim Genet. 52:509-13, 2021. Pubmed reference: 34028060. DOI: doi: 10.1111/age.13089.
Hiltpold, M., Kadri, N.K., Janett, F., Witschi, U., Schmitz-Hsu, F., Pausch, H. :
Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population. BMC Genomics 22:225, 2021. Pubmed reference: 33784962. DOI: 10.1186/s12864-021-07523-3.
2020 Hiltpold, M., Niu, G., Kadri, N.K., Crysnanto, D., Fang, Z.H., Spengeler, M., Schmitz-Hsu, F., Fuerst, C., Schwarzenbacher, H., Seefried, F.R., Seehusen, F., Witschi, U., Schnieke, A., Fries, R., Bollwein, H., Flisikowski, K., Pausch, H. :
Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility. PLoS Genet 16:e1008804, 2020. Pubmed reference: 32407316. DOI: 10.1371/journal.pgen.1008804.
2019 Nani, J.P., Rezende, F.M., Peñagaricano, F. :
Predicting male fertility in dairy cattle using markers with large effect and functional annotation data. BMC Genomics 20:258, 2019. Pubmed reference: 30940077. DOI: 10.1186/s12864-019-5644-y.
2018 Nicolini, P., Amorín, R., Han, Y., Peñagaricano, F. :
Whole-genome scan reveals significant non-additive effects for sire conception rate in Holstein cattle. BMC Genet 19:14, 2018. Pubmed reference: 29486732. DOI: 10.1186/s12863-018-0600-4.

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