Abstract

Marek’s Disease (MD) is a highly contagious pathogenic and oncogenic disease primarily affecting chickens. Chicken Lines 63 and 72, as well as their recombinant congenic strains (RCS) with varied susceptibility to MD, are ideal models to study the complex mechanisms of genetic resistance to MD. In this study, we investigated copy number variation (CNV) in these inbred chicken lines using the Affymetrix Axiom HD 600 K SNP genotyping array. We detected 393 CNV segments across all ten chicken lines, of which 12 CNVs were specifically identified in Line 72. We then assessed genetic structure based on CNV and observed markedly different patterns. Finally, we validated two deletion events in Line 72 and correlated them with genes expression using qPCR and RNA-seq, respectively. Our combined results indicated that these two CNV deletions were likely to contribute to MD susceptibility.

Highlights

  • High-quality poultry products are an invaluable food resource for humans

  • In this study, using the Affymetrix Axiom HD 600 K genotyping array (Santa Clara, CA, USA), we performed a copy number variation (CNV) analysis in chickens from different genetic lines, including the two highly-inbred lines, F1 reciprocal crosses of the two inbred lines, and six recombinant congenic strains (RCS), which significantly vary in genetic resistance to Marek’s disease (MD)

  • We focused on two lineage-specific CNVs from Line 72 because their segregating patterns suggest their potential contribution to MD

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Summary

Introduction

High-quality poultry products are an invaluable food resource for humans. Marek’s disease (MD) causes substantial revenue loss in the global poultry industry. Genetic variations and gene expression play important roles in phenotypic diversity [3,4] Some of these variations may underlie major mechanisms that account for variations in disease resistance. In addition to single nucleotide polymorphism (SNP), copy number variation (CNV) is one of the important genetic variants They affect gene expression levels, and result in phenotypic variations, often impacting on disease susceptibility [20,21,22,23]. In this study, using the Affymetrix Axiom HD 600 K genotyping array (Santa Clara, CA, USA), we performed a CNV analysis in chickens from different genetic lines, including the two highly-inbred lines, F1 reciprocal crosses of the two inbred lines, and six RCS, which significantly vary in genetic resistance to MD. Our results from the gene expression confirmed that these CNVs can potentially contribute to MD in chickens

Identification of CNV Segments
Shared Versus Lineage-Specific Events
Candidate CNVs Conferring Marek’s Disease
Experimental Animals
Phenotypic and MD Incidence
Copy Number Variation Analysis
PATHER Classification and IPA Network Analysis
Clustering and Population Genetics Analyses
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