OMIA 001902-9913 : Male subfertility in Bos taurus |
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2014
Mapping:
A GWAS by Pausch et al. (2014) for male reproductive ability (ranging "from −40 to +13 and reflect[ing] the bulls' reproductive performance as percentage deviation from the population mean, based on 15 million artificial inseminations") on 7961 Fleckvieh AI bulls, each with imputed genotypes of 652,856 SNPs, highlighted a region on chromosome BTA19. Subsequent autozygosity mapping narrowed the region to 1386 kb.
Molecular basis:
As reported by Pausch et al. (2014), "whole-genome re-sequencing data of 43 animals revealed a candidate causal nonsense mutation (rs378652941, c.483C>A, p.Cys161X) in the transmembrane protein 95 encoding gene TMEM95 which was subsequently validated in 1990 AI bulls. Immunohistochemical investigations evidenced that TMEM95 is located at the surface of spermatozoa of fertile animals whereas it is absent in spermatozoa of subfertile animals". Only "1.7% of 35,671 inseminations" were successful in bulls that are homozygous for the mutation.
Breed:
Fleckvieh.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TMEM95 | transmembrane protein 95 | Bos taurus | 19 | NC_037346.1 (27054972..27057600) | TMEM95 | Homologene, Ensembl, NCBI gene |
Variants
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fleckvieh | Male subfertility | TMEM95 | nonsense (stop-gain) | UMD3.1 | 19 | g.27689622C>A | c.483C>A | p.Cys161* | rs378652941 | 2014 | 24391514 | Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446 |
Reference
| 2014 | Pausch, H., Kölle, S., Wurmser, C., Schwarzenbacher, H., Emmerling, R., Jansen, S., Trottmann, M., Fuerst, C., Götz, K.U., Fries, R. : | |
| A Nonsense Mutation in TMEM95 Encoding a Nondescript Transmembrane Protein Causes Idiopathic Male Subfertility in Cattle. PLoS Genet 10:e1004044, 2014. Pubmed reference: 24391514. DOI: 10.1371/journal.pgen.1004044. |
Edit History
- Created by Frank Nicholas on 09 Jan 2014
- Changed by Frank Nicholas on 09 Jan 2014
- Changed by Frank Nicholas on 04 Aug 2017