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Title:   Author  item
                                            ADAMS, HEATHER - University Of Illinoisitem
                                            Sonstegard, Taditem
                                            Vanraden, Paulitem
                                            Null, Danielitem
                                            Van Tassell, Curtis

                                                         - *Curt*item
                                            LARKIN, DENIS - University Of Illinoisitem
                                            LEWIN, HARRIS - University Of Illinois
  Submitted to: Journal of Dairy Science
                                    Publication Type: Peer Reviewed Journal
                                    Publication Acceptance Date: 4/23/2016
                                    Publication  Date: 8/1/2016
                                    Citation: Adams, H.A., Sonstegard, T.S., Van Raden, P.M., Null, D.J., Van Tassell, C.P., Larkin, D.M., Lewin, H.A. 2016. Identification of a nonsense mutation in APAF1 that is likely causal for a decrease in reproductive efficiency in Holstein dairy cattle. Journal of Dairy Science. 99(8):6693-6701.Interpretive Summary: A prominent Holstein sire from the 1960s was found to carry a lethal mutation (recessive mutation) that causes abortion in cattle. These abortions cause a significant economic loss to the dairy industry. A combination studies of whole genome sequencing and genotyping of this bull and his descendants was completed to identify the specific mutation in a gene affecting embryo development. The results of this study will be translated into a DNA marker test that will be available to producers to identify dairy cattle carrying this lethal mutation.
                                Technical Abstract: A haplotype on cattle chromosome 5 carrying a recessive lethal allele was found to originate in a Holstein-Friesian foundation sire.  Resequencing led to the identification of a stop-gain mutation in exon 11 of APAF1, a gene known to cause embryonic lethality and neurodevelopmental abnormalities in knockout mice.  This newly identified lethal mutation  has been responsible for a substantial number of spontaneous abortions causing significant economic loss to the dairy industry.


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