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OMIA 001830-9913 : Abortion due to haplotype HH7 in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive Lethal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Species-specific symbol: HH7

Mapping: By analysing Illumina Bovine 50k Beadchip genotype data from 47,878 Holstein, 16,833 Montbéliarde and 11,466 Normande cattle in the French genomic selection database, Fritz et al. (2013) identified 34 common (>1%) haplotypes that have a significant deficit (P<10^-4) of homozygotes in live animals, and which are, therefore, each likely to harbour a deleterious mutation. Three of these haplotypes, namely BY (Brachyspina; OMIA 000151-9913), HH1 (OMIA 000001-9913) and HH3 (OMIA 001824-9913), had been reported by VanRaden et al. (2011; J Dairy Sci 94:6153-61). Following the convention of naming such haplotypes with a first letter indicating breed, a second letter H for haplotype, followed by a sequential number, Fritz et al. (2013) named their 14 new Holstein haplotypes as HH4 to HH17, their 11 Montbéliarde haplotypes as MH1 to MH11, and their six Normande haplotypes as NH1 to NH6. Analyses of reproductive data indicated that nine of the 34 haplotypes have a significant effect on fertility, including six of the newly identified haplotypes, namely HH4, HH5, HH6, MH1, MH2 and NH5.

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

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
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
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References


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.

Edit History


  • Created by Frank Nicholas on 14 Jun 2013
  • Changed by Frank Nicholas on 14 Jun 2013
  • Changed by Frank Nicholas on 27 Apr 2018