Article thumbnail

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

By Carole Charlier, Jorgen Steen Agerholm, Wouter Coppieters, Peter Karlskov-Mortensen, Wanbo Li, Gerben de Jong, Corinne Fasquelle, Latifa Karim, Susanna Cirera, Nadine Cambisano, Naïma Ahariz, Erik Mullaart, Michel Georges and Merete Fredholm

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.Peer reviewe

Topics: Life sciences :: Genetics & genetic processes, Sciences du vivant :: Génétique & processus génétiques
Year: 2012
OAI identifier: oai:orbi.ulg.ac.be:2268/142871
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • https://orbi.uliege.be/handle/... (external link)
  • Suggested articles


    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.