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)
PDF
Publisher pdf
Language: English Restricted to Repository staff only |
|
Contact us about this Publication
|
![]() |
Official URL: https://doi.org/10.1017/S1751731118000204 |
Abstract
Early detection of karyotype abnormalities, including aneuploidy, could aid producers in identifying animals which, for example, would
not be suitable candidate parents. Genome-wide genetic marker data in the form of single nucleotide polymorphisms (SNPs) are now
being routinely generated on animals. The objective of the present study was to describe the statistics that could be generated from the
allele intensity values from such SNP data to diagnose karyotype abnormalities; of particular interest was whether detection of
aneuploidy was possible with both commonly used genotyping platforms in agricultural species, namely the Applied BiosystemsTM
AxiomTM and the Illumina platform. The hypothesis was tested using a case study of a set of dizygotic X-chromosome monosomy 53,X
sheep twins. Genome-wide SNP data were available from the Illumina platform (11 082 autosomal and 191 X-chromosome SNPs) on
1848 male and 8954 female sheep and available from the AxiomTM platform (11 128 autosomal and 68 X-chromosome SNPs) on
383 female sheep. Genotype allele intensity values, either as their original raw values or transformed to logarithm intensity ratio (LRR),
were used to accurately diagnose two dizygotic (i.e. fraternal) twin 53,X sheep, both of which received their single X chromosome from
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
intensity values of normal females, the mean allele intensity value of SNP genotypes on the X chromosome of the two females
monosomic for the X chromosome was 7.45 to 12.4 standard deviations less, and were easily detectable using either the AxiomTM or
Illumina genotype platform; the next lowest mean allele intensity value of a female was 4.71 or 3.3 standard deviations less than the
population mean depending on the platform used. Both 53,X females could also be detected based on the genotype LRR although this
was more easily detectable when comparing the mean LRR of the X chromosome of each female to the mean LRR of their respective
autosomes. On autopsy, the ovaries of the two sheep were small for their age and evidence of prior ovulation was not appreciated. In
both sheep, the density of primordial follicles in the ovarian cortex was lower than normally found in ovine ovaries and primary follicle
development was not observed. Mammary gland development was very limited. Results substantiate previous studies in other species
that aneuploidy can be readily detected using SNP genotype allele intensity values generally already available, and the approach
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 > Biosciences |
Depositing User: | R. O'Connor |
Date Deposited: | 23 Apr 2018 11:08 UTC |
Last Modified: | 04 Mar 2024 16:59 UTC |
Resource URI: | https://kar.kent.ac.uk/id/eprint/66811 (The current URI for this page, for reference purposes) |
- Export to:
- RefWorks
- EPrints3 XML
- BibTeX
- CSV
- Depositors only (login required):