A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina.
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 bra...
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2012
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oai:doaj.org-article:c64c3bd6d1804284a415f000b3be486e2021-11-18T07:07:15ZA deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina.1932-620310.1371/journal.pone.0043085https://doaj.org/article/c64c3bd6d1804284a415f000b3be486e2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22952632/?tool=EBIhttps://doaj.org/toc/1932-6203Fertility 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.Carole CharlierJorgen Steen AgerholmWouter CoppietersPeter Karlskov-MortensenWanbo LiGerben de JongCorinne FasquelleLatifa KarimSusanna CireraNadine CambisanoNaima AharizErik MullaartMichel GeorgesMerete FredholmPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 8, p e43085 (2012) |
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DOAJ |
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| language |
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| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q 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 A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Carole Charlier |
| title |
A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. |
| title_short |
A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. |
| title_full |
A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. |
| title_fullStr |
A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. |
| title_full_unstemmed |
A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. |
| title_sort |
deletion in the bovine fanci gene compromises fertility by causing fetal death and brachyspina. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/c64c3bd6d1804284a415f000b3be486e |
| work_keys_str_mv |
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