OMIA:002904-9913 : Male subfertility, EML5-related in Bos taurus (taurine cattle) |
Categories: Reproductive system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 618119 (gene)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2022
Molecular basis: Nogueira et al. (2022) "A rare SNP, predicted to be deleterious was discovered within a conserved WD40 domain repeat-encoding region ... of the bovine autosomal ... EML5 gene ... in an Angus bull ... with low fertility." The authors "demonstrate that this mutant allele is present in many breeds world-wide."
Clinical features:
Nogueira et al. (2022): "Sperm morphological assessments identified prominent abnormal sperm phenotypes including piriform/tapered heads and knobbed or ruffled acrosomes ... "
Breed:
Angus (Cattle) (VBO_0000104).
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).
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1753 | Angus (Cattle) | Male subfertility, EML5-related | EML5 | missense | Naturally occurring variant | ARS-UCD1.3 | 10 | NC_037337.1:g.100310158G>A | NM_001206576.1:c.4960C>T | NP_001193505.1:p.(R1654W) | rs380547429 | 2022 | 35478957 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002904-9913: 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.
| 2024 | Tirpak, F., Hamilton, L.E., Schnabel, R.D., Sutovsky, P. : |
| Biomarker-based high-throughput sperm phenotyping: Andrology in the age of precision medicine and agriculture. Anim Reprod Sci 271:S0378-4320(24)00236-7:107636, 2024. Pubmed reference: 39522272. DOI: 10.1016/j.anireprosci.2024.107636. | |
| 2022 | Nogueira, E., Tirpák, F., Hamilton, L.E., Zigo, M., Kerns, K., Sutovsky, M., Kim, J., Volkmann, D., Jovine, L., Taylor, J.F., Schnabel, R.D., Sutovsky, P. : |
| A non-synonymous point mutation in a WD-40 domain repeat of EML5 leads to decreased bovine sperm quality and fertility. Front Cell Dev Biol 10:872740, 2022. Pubmed reference: 35478957. DOI: 10.3389/fcell.2022.872740. |
Edit History
- Created by Imke Tammen2 on 17 Dec 2024
- Changed by Imke Tammen2 on 17 Dec 2024