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PLoS One. 2012;7(8):e43085. doi: 10.1371/journal.pone.0043085. Epub 2012 Aug 29.

A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina.

Author information

1
Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège (B34), Liège, Belgium. carole.charlier@ulg.ac.be

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.

PMID:
22952632
PMCID:
PMC3430679
DOI:
10.1371/journal.pone.0043085
[Indexed for MEDLINE]
Free PMC Article

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