OMIA 001830-9913 : Abortion due to haplotype HH7 in Bos taurus
This OMIA entry is for haplotype HH7, which is located in chromosome BTA6, at 51.6–52.6Mb (UMD 3.1 genome assembly) (Fritz et al., 2013).
Escouflaire et al. (2018) reported a new haplotype named HH7, located in the BTA27 region 13.0-14.4Mb.Molecular basis: Escouflaire et al. (2018) reported a likely causal variant for the new HH7 haplotype as being "A four base pair deletion in CENPU gene downstream the splice donor site" at position BTA27:14168128. Prevalence: The initially-named HH7 haplotype occurs with a frequency of 6.9% in the 47,878 Holstein adult cattle adult sampled by Fritz et al. (2013), but with only half the expected frequency of homozygotes.
Escouflaire et al. (2018) reported the frequency of the BTA27 HH7 haplotype to be 0.9% in a sample of 100,100 cattle, but with zero homozygotes observed.Breed: Holstein. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CENPU||centromere protein U||Bos taurus||27||NC_037354.1 (15165428..15117883)||CENPU||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|
|Holstein||Abortion due to haplotype HH7||CENPU||deletion, small (<=20)||UMD3.1||27||g.14168128delTACT||2018||Reference not in PubMed; see OMIA 001830-9913 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.
|2018||Escouflaire, C., Fritz, S., Hoze, C., Rebours, E., Barbat, A., Bizard, M., Chamberlain, A., Vander Jagt, C., Boussaha, M., Grohs, C., Allais-Bonnet, A., Philippe, M., Vallée, A., Amigues, Y., Hayes, B., Boichard, D., Capitan, A. :|
|Identification and characterization of two new recessive embryonic lethal mutations in Holstein cattle World Congress on Genetics Applied to Livestock Production (WCGALP); https://www.icar.org/Documents/Auckland-2018/1445%20Clemintine%20WCGALP_escouflaire_2018_v6.pdf :, 2018.|
|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 27 Apr 2018