Rafter, Pierce, Purfield, Deirdre C., Berry, Donagh P., Parnell, Andrew, Gormley, I. Claire, Kearney, J. Francis, Coffey, Mike P. and Carthy, Tara R. (2018) Characterization of copy number variants in a large multibreed population of beef and dairy cattle using high-density single nucleotide polymorphism genotype data. Journal of Animal Science, 96 (10). pp. 4112-4124. ISSN 0021-8812
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Abstract
Copy number variants (CNVs)
are a form of genomic variation that changes
the structure of the genome through deletion or
duplication of stretches of DNA. The objective
of the present study was to characterize CNVs in
a large multibreed population of beef and dairy
bulls. The CNVs were called on the autosomes
of 5,551 cattle from 22 different beef and dairy
breeds, using 2 freely available software suites,
QuantiSNP and PennCNV. All CNVs were classified into either deletions or duplications. The
median concordance between PennCNV and
QuantiSNP, per animal, was 18.5% for deletions
and 0% for duplications. The low concordance
rate between PennCNV and QuantiSNP indicated
that neither algorithm, by itself, could identify
all CNVs in the population. In total, PennCNV
and QuantiSNP collectively identified 747,129
deletions and 432,523 duplications; 80.2% of all
duplications and 69.1% of all deletions were present only once in the population. Only 0.154% of
all CNVs identified were present in more than 50
animals in the population. The distribution of the
percentage of the autosomes that were composed
of deletions, per animal, was positively skewed,
as was the distribution for the percentage of the
autosomes that were composed of duplications,
per animal. The first quartile, median, and third
quartile of the distribution of the percentage of
the autosomes that were composed of deletions
were 0.019%, 0.037%, and 0.201%, respectively.
The first quartile, median, and third quartile of the
distribution of the percentage of the autosomes
that were composed of duplications were 0.013%,
0.028%, and 0.076%, respectively. The distributions of the number of deletions and duplications
per animal were both positively skewed. The interquartile range for the number of deletions per animal in the population was between 16 and 117,
whereas for duplications it was between 8 and
23. Per animal, there tended to be twice as many
deletions as duplications. The distribution of the
length of deletions was positively skewed, as was
the distribution of the length of duplications. The
interquartile range for the length of deletions in
the population was between 25 and 101 kb, and for
duplications the interquartile range was between
46 and 235 kb. Per animal, duplications tended to
be twice as long as deletions. This study provides a
description of the characteristics and distribution
of CNVs in a large multibreed population of beef
and dairy cattle.
Item Type: | Article |
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Additional Information: | This work was supported by Science Foundation Ireland (SFI) principal investigator award grant number 14/IA/2576. |
Keywords: | bovine; BovineHD; copy number variant; PennCNV; QuantiSNP; structural variant; |
Academic Unit: | Faculty of Science and Engineering > Mathematics and Statistics Faculty of Science and Engineering > Research Institutes > Hamilton Institute |
Item ID: | 13273 |
Identification Number: | 10.1093/jas/sky302 |
Depositing User: | Andrew Parnell |
Date Deposited: | 24 Sep 2020 14:32 |
Journal or Publication Title: | Journal of Animal Science |
Publisher: | American Society of Animal Science |
Refereed: | Yes |
Funders: | Science Foundation Ireland (SFI) |
Related URLs: | |
URI: | https://mu.eprints-hosting.org/id/eprint/13273 |
Use Licence: | This item is available under a Creative Commons Attribution Non Commercial Share Alike Licence (CC BY-NC-SA). Details of this licence are available here |
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