|ORTEGA, M - University Of Missouri|
|LOCKHART, KELSEY - University Of Missouri|
|COLE, JOHN - Former ARS Employee|
Submitted to: Journal of Dairy Science
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 5/31/2022
Publication Date: 9/7/2022
Citation: Ortega, M.S., Bickhart, D.M., Lockhart, K.N., Null, D.J., Hutchison, J.L., McClure, J.C., Cole, J.B. 2022. Truncation of IFT80 causes early embryonic loss in Holstein cattle associated with Holstein haplotype 2. Journal of Dairy Science. 105(11):9001-9011. https://doi.org/10.3168/jds.2022-21853.
Interpretive Summary: The US dairy industry is reliant on cow fertility for high levels of milk production. Modern study of genetics has uncovered many naturally-occurring genetic variants that can impact this fertility. One of these variants which impacted 1.66% of the US Holstein cow population was identified. Using CRISPR-Cas technology, we confirmed the impact of this variant and can now track it in the US dairy herd.
Technical Abstract: Recessive alleles represent a substantial risk in populations that have undergone significant bottleneck events. Analyzing millions of genotypes and hundreds of sequenced bulls, we identified one pernicious recessive variant that achieved 1.66% frequency in the US Holstein population and confirmed loss of embryonic development via CRISPR-Cas9 editing. In the process, we identified the developmental significance of two protein domains of the IFT80 gene in the embryonic development of cattle.