OMIA 001829-9913 : Haplotype with homozygous deficiency NH5 in Bos taurus
This present OMIA entry is for NH5, which is located in chromosome BTA7, at 3.6–4.6Mb (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 NH5, they were not able to find convincing evidence of a causal mutation. Clinical features: The effect of this haplotype is a reduction of 1.39% in heifer calving rate and of 0.78% in cow calving rate (Fritz et al., 2013). Prevalence: The NH5 haplotype occurs with a frequency of 1.9% in the 11,466 Normande adult cattle adult sampled by Fritz et al. (2013), but with only 35% of the expected frequency of homozygotes. Breed: Normande.
|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