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

Carole Charlier; Jørgen Steen Agerholm; Wouter Coppieters; Peter Karlskov-Mortensen; Wanbo Li; Gerben de  Jong; Corinne  Fasquelle; Latifa  Karim; Susanna Cirera Salicio; Nadine Gambisano; Naima Ahariz; Erik Mullaart; Michel Georges; Merete Fredholm

doi:10.1371/journal.pone.0043085

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

Carole Charlier, Jørgen Steen Agerholm, Wouter Coppieters, Peter Karlskov-Mortensen, Wanbo Li, Gerben de Jong, Corinne Fasquelle, Latifa Karim, Susanna Cirera Salicio, Nadine Gambisano, Naima Ahariz, Erik Mullaart, Michel Georges, Merete Fredholm

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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.

Original language	English
Article number	e43085
Journal	PLoS ONE
Volume	7
Issue number	8
Number of pages	7
ISSN	1932-6203
DOIs	https://doi.org/10.1371/journal.pone.0043085
Publication status	Published - 29 Aug 2012

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A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspinaFinal published version, 666 KB

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Charlier, C., Agerholm, J. S., Coppieters, W., Karlskov-Mortensen, P., Li, W., Jong, G. D., Fasquelle, C., Karim, L., Cirera Salicio, S., Gambisano, N., Ahariz, N., Mullaart, E., Georges, M., & Fredholm, M. (2012). A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. PLoS ONE, 7(8), Article e43085. https://doi.org/10.1371/journal.pone.0043085

Charlier, C, Agerholm, JS, Coppieters, W, Karlskov-Mortensen, P, Li, W, Jong, GD, Fasquelle, C, Karim, L, Cirera Salicio, S, Gambisano, N, Ahariz, N, Mullaart, E, Georges, M & Fredholm, M 2012, 'A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina', PLoS ONE, vol. 7, no. 8, e43085. https://doi.org/10.1371/journal.pone.0043085

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AU - Charlier, Carole

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AU - Karlskov-Mortensen, Peter

AU - Li, Wanbo

AU - Jong, Gerben de

AU - Fasquelle, Corinne

AU - Karim, Latifa

AU - Cirera Salicio, Susanna

AU - Gambisano, Nadine

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AU - Georges, Michel

AU - Fredholm, Merete

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N2 - 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.

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

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