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Karyomapping for simultaneous genomic evaluation and aneuploidy screening of preimplantation bovine embryos: The first live-born calves

Handyside, Alan H.; Turner, Kara J.; Silvestri, Giuseppe; Black, David H.; Dobson, Gemma; Smith, Charlotte; Handyside, Alan A.; Sinclair, Kevin D.; Griffin, Darren K.

Authors

Alan H. Handyside

Kara J. Turner

Giuseppe Silvestri

David H. Black

Gemma Dobson

Charlotte Smith

Alan A. Handyside

KEVIN SINCLAIR kevin.sinclair@nottingham.ac.uk
Professor of Developmental Biology

Darren K. Griffin



Abstract

© 2018 The Authors In cattle breeding, the development of genomic selection strategies based on single nucleotide polymorphism (SNP) interrogation has led to improved rates of genetic gain. Additionally, the application of genomic selection to in-vitro produced (IVP) embryos is expected to bring further benefits thanks to the ability to test a greater number of individuals before establishing a pregnancy and to ensure only carriers of desirable traits are born. However, aneuploidy, a leading cause of developmental arrest, is known to be common in IVP embryos. Karyomapping is a comprehensive screening test based on SNP typing that can be used for simultaneous genomic selection and aneuploidy detection, offering the potential to maximize pregnancy rates. Moreover, Karyomapping can be used to characterize the frequency and parental origin of aneuploidy in bovine IVP embryos, which have remained underexplored to date. Here, we report the use of Karyomapping to characterize the frequency and parental origin of aneuploidy in IVP bovine embryos in order to establish an estimate of total aneuploidy rates in each parental germline. We report an estimate of genome wide recombination rate in cattle and demonstrate, for the first time, a proof of principle for the application of Karyomapping to cattle breeding, with the birth of five calves after screening. This combined genomic selection and aneuploidy screening approach was highly reliable, with calves showing 98% concordance with their respective embryo biopsies for SNP typing and 100% concordance with their respective biopsies for aneuploidy screening. This approach has the potential to simultaneously improve pregnancy rates following embryo transfer and the rate of genetic gain in cattle breeding, and is applicable to basic research to investigate meiosis and aneuploidy.

Citation

Handyside, A. H., Turner, K. J., Silvestri, G., Black, D. H., Dobson, G., Smith, C., …Griffin, D. K. (2019). Karyomapping for simultaneous genomic evaluation and aneuploidy screening of preimplantation bovine embryos: The first live-born calves. Theriogenology, 125, 249-258. https://doi.org/10.1016/j.theriogenology.2018.11.014

Journal Article Type Article
Acceptance Date Nov 15, 2018
Online Publication Date Nov 16, 2018
Publication Date Feb 1, 2019
Deposit Date Nov 19, 2018
Publicly Available Date Jan 31, 2019
Journal Theriogenology
Print ISSN 0093-691X
Publisher Elsevier
Peer Reviewed Peer Reviewed
Volume 125
Pages 249-258
DOI https://doi.org/10.1016/j.theriogenology.2018.11.014
Keywords IVP; Cattle; Genomic selection; EBV; Embryo screening; Aneuploidy
Public URL https://nottingham-repository.worktribe.com/output/1285955
Publisher URL https://www.sciencedirect.com/science/article/pii/S0093691X18307179
Additional Information This article is maintained by: Elsevier; Article Title: Karyomapping for simultaneous genomic evaluation and aneuploidy screening of preimplantation bovine embryos: The first live-born calves; Journal Title: Theriogenology; CrossRef DOI link to publisher maintained version: https://doi.org/10.1016/j.theriogenology.2018.11.014; Content Type: article; Copyright: © 2018 The Authors. Published by Elsevier Inc.

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