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Antigen-presenting genes and genomic copy number variations in the Tasmanian devil MHC


Cheng, Y and Stuart, A and Morris, K and Taylor, R and Siddle, HV and Deakin, JE and Jones, M and Amemiya, CT and Belov, K, Antigen-presenting genes and genomic copy number variations in the Tasmanian devil MHC, BMC Genomics, 13, (1) Article 87. ISSN 1471-2164 (2012) [Refereed Article]


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2012 Cheng et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (

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DOI: doi:10.1186/1471-2164-13-87


Background The Tasmanian devil (Sarcophilus harrisii) is currently under threat of extinction due to an unusual fatal contagious cancer called Devil Facial Tumour Disease (DFTD). DFTD is caused by a clonal tumour cell line that is transmitted between unrelated individuals as an allograft without triggering immune rejection due to low levels of Major Histocompatibility Complex (MHC) diversity in Tasmanian devils. Results Here we report the characterization of the genomic regions encompassing MHC Class I and Class II genes in the Tasmanian devil. Four genomic regions approximately 960 kb in length were assembled and annotated using BAC contigs and physically mapped to devil Chromosome 4q. 34 genes and pseudogenes were identified, including five Class I and four Class II loci. Interestingly, when two haplotypes from two individuals were compared, three genomic copy number variants with sizes ranging from 1.6 to 17 kb were observed within the classical Class I gene region. One deletion is particularly important as it turns a Class Ia gene into a pseudogene in one of the haplotypes. This deletion explains the previously observed variation in the Class I allelic number between individuals. The frequency of this deletion is highest in the northwestern devil population and lowest in southeastern areas. Conclusions The third sequenced marsupial MHC provides insights into the evolution of this dynamic genomic region among the diverse marsupial species. The two sequenced devil MHC haplotypes revealed three copy number variations that are likely to significantly affect immune response and suggest that future work should focus on the role of copy number variations in disease susceptibility in this species.

Item Details

Item Type:Refereed Article
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Genetic immunology
Objective Division:Environmental Management
Objective Group:Terrestrial systems and management
Objective Field:Terrestrial biodiversity
UTAS Author:Jones, M (Professor Menna Jones)
ID Code:77977
Year Published:2012
Web of Science® Times Cited:43
Deposited By:Zoology
Deposited On:2012-06-07
Last Modified:2017-10-31
Downloads:404 View Download Statistics

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