Reference : A deletion in the bovine FANCI gene compromises fertility by causing fetal death and ...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/142871
A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina.
English
Charlier, Carole mailto [Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale >]
Agerholm, Jorgen Steen [> >]
Coppieters, Wouter mailto [Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale >]
Karlskov-Mortensen, Peter [> >]
Li, Wanbo mailto [Université de Liège - ULiège > > > GIGA - Membres]
de Jong, Gerben [> >]
Fasquelle, Corinne mailto [Université de Liège - ULiège > Département des sciences biomédicales et précliniques > GIGA-R : Génétique humaine >]
Karim, Latifa mailto [Université de Liège - ULiège > Département des sciences de la vie > GIGA-R : Biologie et génétique moléculaire >]
Cirera, Susanna [> >]
Cambisano, Nadine mailto [Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale >]
Ahariz, Naïma mailto [Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale >]
Mullaart, Erik [> >]
Georges, Michel mailto [Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale >]
Fredholm, Merete [University of Copenhagen > Department of Veterinary Clinical and Animal Sciences > > >]
2012
PLoS ONE
7
8
e43085
Yes (verified by ORBi)
International
1932-6203
United States
[en] 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.
Researchers ; Professionals ; Students
http://hdl.handle.net/2268/142871
10.1371/journal.pone.0043085

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