Abstract

BackgroundCopy number variants contribute to genetic variation in birds. Analyses of copy number variants in chicken breeds had focused primarily on those from commercial varieties with nothing known about the occurrence and diversity of copy number variants in locally raised Chinese chicken breeds. To address this deficiency, we characterized copy number variants in 11 chicken breeds and compared the variation among these breeds.ResultsWe presented a detailed analysis of the copy number variants in locally raised Chinese chicken breeds identified using a customized comparative genomic hybridization array. We identified 833 copy number variants contained within 308 copy number variant regions. The median and mean sizes of the copy number variant regions were 14.6 kb and 35.1 kb, respectively. Of the copy number variant regions, 138 (45%) involved gain of DNA, 159 (52%) involved loss of DNA, and 11 (3%) involved both gain and loss of DNA. Principal component analysis and agglomerative hierarchical clustering revealed the close relatedness of the four locally raised chicken breeds, Shek-Ki, Langshan, Qingyuan partridge, and Wenchang. Biological process enrichment analysis of the copy number variant regions confirmed the greater variation among the four aforementioned varieties than among the seven other breeds studied.ConclusionOur description of the distribution of the copy number variants and comparison of the differences among the copy number variant regions of the 11 chicken breeds supplemented the information available concerning the copy number variants of other Chinese chicken breeds. In addition to its relevance for functional analysis, our results provided the first insight into how chicken breeds can be clustered on the basis of their genomic copy number variation.

Highlights

  • Copy number variants contribute to genetic variation in birds

  • As a key type of genomic structural variation, copy number variant (CNV) is operationally defined as a DNA segment longer than 50 bp that is found in variable numbers relative to that found in a reference genome [2]

  • We provided compelling evidence consistent with the conclusion reported by Dorshorst [42] and Shinomiya [43] that a complex genomic rearrangement on chr20 involving the endothelin 3 (EDN3) locus caused the hyperpigmentation associated with fibromelanosis in the chicken

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Summary

Introduction

Analyses of copy number variants in chicken breeds had focused primarily on those from commercial varieties with nothing known about the occurrence and diversity of copy number variants in locally raised Chinese chicken breeds. To address this deficiency, we characterized copy number variants in 11 chicken breeds and compared the variation among these breeds. As a key type of genomic structural variation, copy number variant (CNV) is operationally defined as a DNA segment longer than 50 bp that is found in variable numbers relative to that found in a reference genome [2]. In addition to the large number of CNVs discovered in humans [12,13,14,15], considerable structural polymorphism had been found for mouse [16], rat [17], macaque [18] and several domesticated animal genomes, including those of dogs [2,19], pigs [20], cattle [1,21,22,23,24], sheep [25], chickens [26,27,28,29], and horses [30]

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