Haplotypes with homozygous deficiency BH1-BH38

Phene ID

4881

Name

Haplotypes with homozygous deficiency BH1-BH38

Phene Name

BH1 BH2 BH3 BH4 BH5 BH6 BH7 BH8 BH9 BH10 BH11 BH12 BH13 BH14 BH15 BH16 BH17 BH18 BH19 BH20 BH21 BH22 BH23 BH24 BH25 BH26 BH27 BH28 BH29 BH30 BH31 BH32 BH33 BH34 BH35 BH36 BH37 BH38

OMIA ID

2513

Species ID

9913

Characterised

No

Characterised Year

N/A

Häfliger et al. (2021) investigated “the two Braunvieh populations reared in Switzerland, the dairy Brown Swiss (BS) and the dual-purpose Original Braunvieh (OB). We performed a genome-wide analysis of array data of trios (sire, dam, and offspring) from the routine genomic selection to identify candidate regions showing missing homozygosity and phenotypic associations with five fertility, ten birth, and nine growth-related traits. In addition, genome-wide single SNP regression studies based on 114,890 single nucleotide polymorphisms (SNPs) for each of the two populations were performed. Furthermore, whole-genome sequencing data of 430 cattle including 70 putative haplotype carriers were mined to identify potential candidate variants that were validated by genotyping the current population using a custom array. … Using a trio-based approach, we identified 38 haplotype regions for BS and five for OB … . For the BS population, we confirmed two known haplotypes, BH1 and BH2 [OMIA 001825-9913 and OMIA 001939-9913]. Twenty-four variants that potentially explained the missing homozygosity and associated traits were detected …. We propose a list of six protein-changing variants as potentially causing missing homozygosity. These variants need to be functionally validated and incorporated in the breeding program.” The mapping information for the haplotypes with homozygous deficiency identified in the Brown Swiss population are described below. Haplotypes for which a likely causal variant has been proposed (BH2, BH6, BH14, BH24 and BH34) have additional OMIA entries which contain the variant information.