OMIA:002788-9913 : Male subfertility, AK9-related in Bos taurus (taurine cattle)

Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615358 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Species-specific description: O’Callaghan et al. (2023) "present a detailed phenotypic and molecular characterization of an intronic variant in cattle that activates cryptic splicing of the adenylate kinase 9 (AK9) gene resulting in extreme subfertility associated with impaired sperm hyperactivation, failure of oocyte binding/penetration, and low frequency of embryo development culminating in severely compromised field fertility."

Molecular basis: 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." The AK9 variant is listed as chr9:40620329A>G (ARS-UCD1.2; rs457222030). O’Callaghan et al. (2023): "Whole- genome sequencing from semen and RNA sequencing of testis tissue revealed a critical mutation [Chr9:40620329A>G] in adenylate kinase 9 (AK9) that impaired splicing, leading to a premature termination codon and a severely truncated protein. Mice deficient in AK9 were generated to further investigate the function of the gene; knockout males were phenotypically indistinguishable from their wild-type littermates but produced immotile sperm that were incapable of normal fertilization."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
AK9 adenylate kinase 9 Bos taurus 9 NC_037336.1 (40559614..40676462) AK9 Homologene, Ensembl , NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1629 Holstein Friesian (Cattle) Subfertility, AK9-related AK9 splicing Naturally occurring variant ARS-UCD1.2 9 g.40620329A>G rs457222030 2021 34028060

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002788-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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 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.
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.

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  • Created by Imke Tammen2 on 19 Oct 2023
  • Changed by Imke Tammen2 on 19 Oct 2023