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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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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.

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
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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