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An endogenous retrovirus insertion disrupting bovine ALKBH8 causes a failure-to-thrive syndrome with immunodeficiency associated with juvenile mortality in Brown Swiss cattle
bioRxiv · · Preprint · Open access
Glatthard, Kadri + 13 more
Abstract ↗AI summary
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A 10.4 kb ERVK[2-1-LTR] insertion into the coding region of bovine ALKBH8 is linked to failure-to-thrive with immunodeficiency and increased juvenile mortality in Brown Swiss calves.
- Why it matters: Hidden recessive disorders can be missed by standard association tests, even when they strongly affect rearing performance and early survival in intensively selected cattle populations.
- What they did: Using Homozygous Haplotype Enrichment/Depletion mapping in genotyped Swiss Brown Swiss cohorts, the risk haplotype BH39 (chr15: 16,276,819–16,446,984) associated with higher mortality within 180 days; long-read whole-genome sequencing and full-length RNA sequencing identified an ALKBH8 ERV insertion disrupting transcription.
- The result: BH39 occurred at ~4.5% in Swiss and 5.3% in German/Austrian Brown Swiss cattle, and homozygous females showed recurrent respiratory disease, bronchopneumonia, eosinophilic enteritis, failure to thrive, and immunodeficiency.
The findingWhy it mattersWhat they didThe result
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