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Aneuploidy in dizygotic twin sheep detected using genome-wide single nucleotide polymorphism data from two commonly used commercial vendors

Berry, D. P., O’Brien, A., O’Donovan, J., McHugh, N., Wall, E., Randles, S., McDermott, K., O’Connor, R. E., Patil, M. A., Ho, J., and others. (2018) Aneuploidy in dizygotic twin sheep detected using genome-wide single nucleotide polymorphism data from two commonly used commercial vendors. animal, . ISSN 1751-7311. (doi:10.1017/S1751731118000204) (Access to this publication is currently restricted. You may be able to access a copy if URLs are provided) (KAR id:66811)

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Abstract

Early detection of karyotype abnormalities, including aneuploidy, could aid producers in identifying animals which, for example, would

being routinely generated on animals. The objective of the present study was to describe the statistics that could be generated from the

aneuploidy was possible with both commonly used genotyping platforms in agricultural species, namely the Applied BiosystemsTM

sheep twins. Genome-wide SNP data were available from the Illumina platform (11 082 autosomal and 191 X-chromosome SNPs) on

383 female sheep. Genotype allele intensity values, either as their original raw values or transformed to logarithm intensity ratio (LRR),

their sire. This is the first reported case of 53,X dizygotic twins in any species. Relative to the X-chromosome SNP genotype mean allele

monosomic for the X chromosome was 7.45 to 12.4 standard deviations less, and were easily detectable using either the AxiomTM or

population mean depending on the platform used. Both 53,X females could also be detected based on the genotype LRR although this

autosomes. On autopsy, the ovaries of the two sheep were small for their age and evidence of prior ovulation was not appreciated. In

development was not observed. Mammary gland development was very limited. Results substantiate previous studies in other species

proposed in the present study was agnostic to genotype platform.

Item Type: Article
DOI/Identification number: 10.1017/S1751731118000204
Uncontrolled keywords: mutation, chromosome, ovine, turner, karyotype
Divisions: Divisions > Division of Natural Sciences > School of Biosciences
Depositing User: R. O'Connor
Date Deposited: 23 Apr 2018 11:08 UTC
Last Modified: 16 Apr 2020 13:49 UTC
Resource URI: https://kar.kent.ac.uk/id/eprint/66811 (The current URI for this page, for reference purposes)
O’Connor, R. E.: https://orcid.org/0000-0002-4270-970X
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