OMIA:002507-9913 : Haplotype with homozygous deficiency SH7 in Bos taurus (taurine cattle)

Categories: Mortality / aging (incl. embryonic lethal)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Häfliger et al. (2021) “report the result of a large-scale reverse genetic screen in the Swiss Simmental population …. We used 115,000 phased SNP data of almost 10 thousand cattle with pedigree data. This revealed evidence for 11 genomic regions … with haplotypes (SH1 to SH11) showing a significant depletion in homozygosity and an allele frequency between 3.2 and 10.6%. For the proposed haplotypes, it was unfortunately not possible to evaluate associations with fertility traits as no corresponding data were available. …. Subsequent mining of single-nucleotide variants and short indels in the genomes of 23 sequenced haplotype carriers allowed us to identify three perfectly linked candidate causative protein-changing variants … [for haplotypes SH5, SH8 and SH9]. … Four selected haplotypes (SH5, SH7, SH8, and SH10) presented a complete deficit of observed homozygous animals, whereas the others showed a partial deficiency ranging from 85 to 96% of the expected homozygotes….”

Mapping: Häfliger et al. (2021): “Due to the application of several routinely available SNP arrays ranging from 9000 to 150,000 SNPs, the [genotyping] data had to be imputed …. haplotypes showing a deviation from the HWE, indicated by depletion of homozygosity, were identified. The first subset of data analyzed included only fully genotyped trios where the complete trio (sire, dam, and offspring) were genotyped (n = 2626), further called “trio” approach. The second dataset analyzed included genotyped trios where an offspring and two paternal animals (sire and maternal grandfather) were genotyped (n = 3969), subsequently called parent–grandparent “pgp” approach.” The SH7 haplotype was mapped to ARS-UCD1.2 Chr:6.120–8.011MB using the trio approach (depletion in homozygosity = 100%, allele frequency = 0.055) and Chr6:6.122–8.060 MB using the pgp approach (depletion in homozygosity = 96%, allele frequency = 0.106).

Breed: Simmental (Cattle) (VBO_0000380).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002507-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2021 Häfliger, I.M., Seefried, F.R., Drögemüller, C. :
Reverse genetic screen for deleterious recessive variants in the local Simmental cattle population of Switzerland. Animals (Basel) 11:3535, 2021. Pubmed reference: 34944310. DOI: 10.3390/ani11123535.

Edit History

  • Created by Imke Tammen2 on 13 Jan 2022