OMIA 001828-9913 : Abortion due to haplotype MH2 in Bos taurus
This present OMIA entry is for MH2, which is located in chromosome BTA29, at 27.9–29.1Mb (UMD 3.1 genome assembly) (Fritz et al., 2013).Molecular basis: For eight of the nine haplotypes with a significant effect on calving rate (see Mapping section), Fritz et al. (2013) searched for causal mutations via whole-genome sequence data from 25 Holstein, 11 Montbéliarde and nine Normande bulls which had made major contributions to their breed. Specifically, they filtered "for mutations that were (a) located at+or –6 Mb from the detected haplotype (b) carried in the heterozygous state by the carrier bulls and (c) absent from the non carrier bulls from the three breeds" and then examined identified polymorphisms for their likely effect on protein structure and function. For MH2, Fritz et al. (2013) provided strong evidence for a candidate causal mutation, namely a nonsense mutation (g.28879810C>T; UMD 3.1 genome assembly) in the SLC37A2 gene (which solute carrier family 37, member 2), leading to p.R12X.
Reinartz and Distl (2016) reported homozygosity of this mutant in an aborted Vorderwald x Montbéliarde crossbred foetus inbred to Montbéliarde bulls. The mutant occurs at a frequency of around 5% in Vorderwald cattle with Montbéliarde ancestry but is absent from Vorderwald cattle with no Montbéliarde ancerstry.Clinical features: The effect of this haplotype is a reduction of 5.26% in heifer calving rate and of 4.85% in cow calving rate (Fritz et al., 2013). Prevalence: The MH2 haplotype occurs with a frequency of 7.0% in the 16,833 Montbéliarde adult cattle sampled by Fritz et al. (2013), but only once as a homozygote. Breed: Montbeliarde. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC37A2||solute carrier family 37 (glucose-6-phosphate transporter), member 2||Bos taurus||29||NC_037356.1 (28470045..28523738)||SLC37A2||Homologene, Ensembl, NCBI gene|
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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|
|Montbeliarde||Abortion due to haplotype MH2||SLC37A2||nonsense (stop-gain)||UMD 3.1||29||g.28879810C>T||c.34C>T||p.R12*||2013||23762392||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2016||Reinartz, S., Distl, O. :|
|Validation of Deleterious Mutations in Vorderwald Cattle. PLoS One 11:e0160013, 2016. Pubmed reference: 27472836. DOI: 10.1371/journal.pone.0160013.|
|2013||Fritz, S., Capitan, A., Djari, A., Rodriguez, S.C., Barbat, A., Baur, A., Grohs, C., Weiss, B., Boussaha, M., Esquerré, D., Klopp, C., Rocha, D., Boichard, D. :|
|Detection of haplotypes associated with prenatal death in dairy cattle and identification of deleterious mutations in GART, SHBG and SLC37A2. PLoS One 8:e65550, 2013. Pubmed reference: 23762392. DOI: 10.1371/journal.pone.0065550.|
- Created by Frank Nicholas on 14 Jun 2013
- Changed by Frank Nicholas on 14 Jun 2013
- Changed by Frank Nicholas on 31 Mar 2014
- Changed by Frank Nicholas on 04 Aug 2016