Häfliger, Irene M.; Seefried, Franz R.; Drögemüller, Cord (2021). Reverse Genetic Screen for Deleterious Recessive Variants in the Local Simmental Cattle Population of Switzerland. Animals, 11(12), p. 3535. MDPI 10.3390/ani11123535
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We herein report the result of a large-scale reverse genetic screen in the Swiss Simmental population, a local dual-purpose cattle breed. We aimed to detect possible recessively inherited variants affecting protein-coding genes, as such deleterious variants can impair fertility and rearing success significantly. We used 115,000 phased SNP data of almost 10 thousand cattle with pedigree data. This revealed evidence for 11 genomic regions of 1.17 Mb on average, 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. For each haplotype region, possible candidate genes were listed based on their known function in development and disease. 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: a SH5-related DIS3:p.Ile678fs loss-of-function variant, a SH8-related CYP2B6:p.Ile313Asn missense variant, and a SH9-related NUBPL:p.Ser143Tyr missense variant. None of these variants occurred in homozygous state in any of more than 5200 sequenced cattle of various breeds. Selection against these alleles in order to reduce reproductive failure and animal loss is recommended.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) |
Graduate School: |
Graduate School for Cellular and Biomedical Sciences (GCB) |
UniBE Contributor: |
Häfliger, Irene Monika, Drögemüller, Cord |
Subjects: |
500 Science > 590 Animals (Zoology) 600 Technology > 630 Agriculture 500 Science > 570 Life sciences; biology 600 Technology > 610 Medicine & health |
ISSN: |
2076-2615 |
Publisher: |
MDPI |
Language: |
English |
Submitter: |
Cord Drögemüller |
Date Deposited: |
23 Dec 2021 14:17 |
Last Modified: |
05 Dec 2022 15:57 |
Publisher DOI: |
10.3390/ani11123535 |
BORIS DOI: |
10.48350/162520 |
URI: |
https://boris.unibe.ch/id/eprint/162520 |
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