BMC Genomics

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Open Access Highly Access Research article

Expression profile and transcription factor binding site exploration of imprinted genes in human and mouse

Christine Steinhoff1*, Martina Paulsen2, Szymon Kielbasa1, Jörn Walter2 and Martin Vingron1

Author Affiliations

1 Department of Computational Biology, Max Planck Institute for Molecular Genetics (MPIMG), Ihnestr 63-73, 14195 Berlin, Germany

2 Biosciences, Genetics/Epigenetics, University Saarbrücken, 66041 Saarbrücken, Germany

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BMC Genomics 2009, 10:144 doi:10.1186/1471-2164-10-144

Published: 31 March 2009

Abstract

Background

In mammals, imprinted genes are regulated by an epigenetic mechanism that results in parental origin-specific expression. Though allele-specific regulation of imprinted genes has been studied for several individual genes in detail, little is known about their overall tissue-specific expression patterns and interspecies conservation of expression.

Results

We performed a computational analysis of microarray expression data of imprinted genes in human and mouse placentae and in a variety of adult tissues. For mouse, early embryonic stages were also included. The analysis reveals that imprinted genes are expressed in a broad spectrum of tissues for both species. Overall, the relative tissue-specific expression levels of orthologous imprinted genes in human and mouse are not highly correlated. However, in both species distinctive expression profiles are found in tissues of the endocrine pathways such as adrenal gland, pituitary, pancreas as well as placenta. In mouse, the placental and embryonic expression patterns of imprinted genes are highly similar. Transcription factor binding site (TFBS) prediction reveals correlation of tissue-specific expression patterns and the presence of distinct TFBS signatures in the upstream region of human imprinted genes.

Conclusion

Imprinted genes are broadly expressed pre- and postnatally and do not exhibit a distinct overall expression pattern when compared to non-imprinted genes. The relative expression of most orthologous gene pairs varies significantly between human and mouse suggesting rapid species-specific changes in gene regulation. Distinct expression profiles of imprinted genes are confined to certain human and mouse hormone producing tissues, and placentae. In contrast to the overall variability, distinct expression profiles and enriched TFBS signatures are found in human and mouse endocrine tissues and placentae. This points towards an important role played by imprinted gene regulation in these tissues.