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ARS Home » Southeast Area » Athens, Georgia » U.S. National Poultry Research Center » Avian Disease and Oncology Research » Research » Publications at this Location » Publication #326414

Title: Characterization of copy number variation's potential Role in Marek’s disease

item XU, LINGYANG - University Of Maryland
item HE, YANGHUA - University Of Maryland
item DING, YI - University Of Maryland
item SUN, GUIRONG - University Of Maryland
item CARRILLO, JOSE ADRIAN - University Of Maryland
item LI, YAOKUN - University Of Maryland
item GHALY, MONA - University Of Maryland
item MA, LI - University Of Maryland
item Zhang, Huanmin
item Liu, Ge - George
item SONG, JIUZHOU - University Of Maryland

Submitted to: International Journal of Molecular Sciences
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 5/4/2017
Publication Date: 5/9/2017
Publication URL:
Citation: Xu, L., He, Y., Ding, Y., Sun, G., Carrillo, J., Li, Y., Ghaly, M.M., Ma, L., Zhang, H., Liu, G., Song, J. 2017. Characterization of copy number variation's potential Role in Marek’s disease. International Journal of Molecular Sciences. Available:

Interpretive Summary: Marek's disease (MD) is a highly contagious disease of chickens, which costs the world poultry industry about 2 billion dollars each year. Industrial control of the disease is considered basically successful by routine vaccination and enhanced management measures. To improve the current control measures, genetic resistance to MD has been actively investigated to advance the understanding on genetics and epigenetics knowledge in relation to MD. This study was designed to identify the so-called copy number variation, also known as CNV, which refers to number of copies of a particular gene varying from one chicken to the next, in association with MD. Using the unique genetic resources of inbred chicken lines developed and being maintained at the USDA-ARS research lab at East Lansing, Michigan, a total of 393 CNVs were identified. Two particular CNVs are believed to confer MD based on the molecular genetics analyses. This finding may facilitate subsequent research projects to gain implementable measures for better control of the disease in chickens.

Technical 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 variations (CNV) in these inbred chicken lines using the 600 K Affymetrix Axiom HD 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 resistance/susceptibility.