Elusive Copy Number Variation in the Mouse Genome - Archive ouverte HAL Access content directly
Journal Articles PLoS ONE Year : 2010

Elusive Copy Number Variation in the Mouse Genome

(1) , (1) , (1) , (1) , (2) , (2) , (1) , (1)
1
2

Abstract

Background: Array comparative genomic hybridization (aCGH) to detect copy number variants (CNVs) in mammalian genomes has led to a growing awareness of the potential importance of this category of sequence variation as a cause of phenotypic variation. Yet there are large discrepancies between studies, so that the extent of the genome affected by CNVs is unknown. We combined molecular and aCGH analyses of CNVs in inbred mouse strains to investigate this question. Principal Findings: Using a 2.1 million probe array we identified 1,477 deletions and 499 gains in 7 inbred mouse strains. Molecular characterization indicated that approximately one third of the CNVs detected by the array were false positives and we estimate the false negative rate to be more than 50%. We show that low concordance between studies is largely due to the molecular nature of CNVs, many of which consist of a series of smaller deletions and gains interspersed by regions where the DNA copy number is normal. Conclusions: Our results indicate that CNVs detected by arrays may be the coincidental co-localization of smaller CNVs, whose presence is more likely to perturb an aCGH hybridization profile than the effect of an isolated, small, copy number alteration. Our findings help explain the hitherto unexplored discrepancies between array-based studies of copy number variation in the mouse genome.
Fichier principal
Vignette du fichier
PlosOne2010_Vol5e12839.pdf (648.76 Ko) Télécharger le fichier
Origin : Publisher files allowed on an open archive

Dates and versions

inserm-03949376 , version 1 (20-01-2023)

Identifiers

Cite

Avigail Agam, Binnaz Yalcin, Amarjit Bhomra, Matthew Cubin, Caleb Webber, et al.. Elusive Copy Number Variation in the Mouse Genome. PLoS ONE, 2010, 5 (9), pp.e12839. ⟨10.1371/journal.pone.0012839⟩. ⟨inserm-03949376⟩

Collections

INSERM
0 View
0 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More