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Type: Journal article
Title: Disruption and pseudoautosomal localization of the major histocompatibility complex in monotremes
Author: Dohm, J.
Tsend-Ayush, E.
Reinhardt, R.
Grutzner, F.
Himmelbauer, H.
Citation: Genome Biology, 2007; 8(8):R175-1-R175-16
Publisher: BioMed Central
Issue Date: 2007
ISSN: 1474-760X
Statement of
Juliane C Dohm, Enkhjargal Tsend-Ayush, Richard Reinhardt, Frank Grützner, and Heinz Himmelbauer
Abstract: Background: The monotremes, represented by the duck-billed platypus and the echidnas, are the most divergent species within mammals, featuring a flamboyant mix of reptilian, mammalian and specialized characteristics. To understand the evolution of the mammalian major histocompatibility complex (MHC), the analysis of the monotreme genome is vital. Results: We characterized several MHC containing bacterial artificial chromosome clones from platypus (Ornithorhynchus anatinus) and the short-beaked echidna (Tachyglossus aculeatus) and mapped them onto chromosomes. We discovered that the MHC of monotremes is not contiguous and locates within pseudoautosomal regions of two pairs of their sex chromosomes. The analysis revealed an MHC core region with class I and class II genes on platypus and echidna X3/Y3. Echidna X4/Y4 and platypus Y4/X5 showed synteny to the human distal class III region and beyond. We discovered an intron-containing class I pseudogene on platypus Y4/X5 at a genomic location equivalent to the human HLA-B,C region, suggesting ancestral synteny of the monotreme MHC. Analysis of male meioses from platypus and echidna showed that MHC chromosomes occupy different positions in the meiotic chains of either species. Conclusion: Molecular and cytogenetic analyses reveal new insights into the evolution of the mammalian MHC and the multiple sex chromosome system of monotremes. In addition, our data establish the first homology link between chicken microchromosomes and the smallest chromosomes in the monotreme karyotype. Our results further suggest that segments of the monotreme MHC that now reside on separate chromosomes must once have been syntenic and that the complex sex chromosome system of monotremes is dynamic and still evolving.
Keywords: Chromosomes, Artificial, Bacterial
In Situ Hybridization, Fluorescence
Chromosome Mapping
Evolution, Molecular
Genes, MHC Class I
Base Sequence
Molecular Sequence Data
Rights: © 2007 Dohm et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
DOI: 10.1186/gb-2007-8-8-r175
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