A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina.
- Charlier, Carole
- Agerholm, Jorgen Steen
- Coppieters, Wouter
- Karlskov-Mortensen, Peter
- Li, Wanbo
- de Jong, Gerben
- Fasquelle, Corinne
- Karim, Latifa
- Cirera, Susanna
- Cambisano, Nadine
- Ahariz, Naïma
- Mullaart, Erik
- Georges, Michel
- Fredholm, Merete
DOIAbstract
Fertility is one of the most important traits in dairy cattle, and has been steadily declining over the last decades. We herein use state-of-the-art genomic tools, including high-throughput SNP genotyping and next-generation sequencing, to identify a 3.3 Kb deletion in the FANCI gene causing the brachyspina syndrome (BS), a rare recessive genetic defect in Holstein dairy cattle. We determine that despite the very low incidence of BS (<1/100,000), carrier frequency is as high as 7.4% in the Holstein breed. We demonstrate that this apparent discrepancy is likely due to the fact that a large proportion of homozygous mutant calves die during pregnancy. We postulate that several other embryonic lethals may segregate in livestock and significantl...
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