OMIA 002134-9913 : Abortion due to haplotype AH2 in Bos taurus
Guarini et al. (2019) reported the frequency of the AH2 haplotype in Canadian Ayrshires was less than 1% from 1997 to 2010 after which it rose to be around 11.2% in 2014 (estimated from their Figure 2).Breed: Ayrshire. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RPAP2||RNA polymerase II associated protein 2||Bos taurus||3||NC_037330.1 (51122541..50994696)||RPAP2||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|
|Ayrshire||Abortion due to haplotype AH2||RPAP2||splicing||3||g.51267548||2017||Reference not in PubMed; see OMIA 002134-9913 for reference details|
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.
|2019||Guarini, A.R., Sargolzaei, M., Brito, L.F., Kroezen, V., Lourenco, D.A.L., Baes, C.F., Miglior, F., Cole, J.B., Schenkel, F.S., Guarini, A.R., Sargolzaei, M., Brito, L.F., Kroezen, V., Lourenco, D.A.L., Baes, C.F., Miglior, F., Cole, J.B., Schenkel, F.S. :|
|Estimating the effect of the deleterious recessive haplotypes AH1 and AH2 on reproduction performance of Ayrshire cattle. J Dairy Sci 102:5315-5322, 2019. Pubmed reference: 30954262. DOI: 10.3168/jds.2018-15366.|
|2017||Null, D.J., Hutchison, J.L., Bickhart, D.M., VanRaden, P.M., Cole, J.B. :|
|Discovery of a haplotype affecting fertility in Ayrshire dairy cattle and identification of a putative causal variant. J. Dairy Sci. 100 (Suppl. 2):199 (Abstract 206), 2017.|
- Created by Frank Nicholas on 22 Nov 2017
- Changed by Frank Nicholas on 11 Apr 2019