A Deletion in the Bovine FANCI Gene Compromises Fertility by Causing Fetal Death and Brachyspina |
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Authors: | Carole Charlier Jorgen Steen Agerholm Wouter Coppieters Peter Karlskov-Mortensen Wanbo Li Gerben de Jong Corinne Fasquelle Latifa Karim Susanna Cirera Nadine Cambisano Naima Ahariz Erik Mullaart Michel Georges Merete Fredholm |
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Affiliation: | Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège (B34), Liège, Belgium. |
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Abstract: | 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 significantly compromise fertility, and propose a genotype-driven screening strategy to detect the corresponding deleterious mutations. |
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