Published online 19 July 2006
© 2006 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commerical use, distribution, and reproduction in any medium, provided the original work is properly cited.
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Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies
King's College London, School of Medicine at Guy's, King's College and St. Thomas' Hospitals, Department of Medical and Molecular Genetics 8th Floor Guy's Tower, London SE1 9RT, UK
*To whom correspondence should be addressed. Tel: 020 7188 3711; Fax: 020 7188 2585; Email: rebecca.oakey{at}genetics.kcl.ac.uk
Received March 21, 2006. Revised May 26, 2006. Accepted June 15, 2006.
Genomic imprinting refers to a specialized form of epigenetic gene regulation whereby the expression of a given allele is dictated by parental origin. Defining the extent and distribution of imprinting across genomes will be crucial for understanding the roles played by imprinting in normal mammalian growth and development. Using mice carrying uniparental disomies or duplications, microarray screening and stringent bioinformatics, we have developed the first large-scale tissue-specific screen for imprinted gene detection. We quantify the stringency of our methodology and relate it to previous non-tissue-specific large-scale studies. We report the identification in mouse of four brain-specific novel paternally expressed transcripts and an additional three genes that show maternal expression in the placenta. The regions of conserved linkage in the human genome are associated with the Prader–Willi Syndrome (PWS) and Beckwith–Wiedemann Syndrome (BWS) where imprinting is known to be a contributing factor. We conclude that large-scale systematic analyses of this genre are necessary for the full impact of genomic imprinting on mammalian gene expression and phenotype to be elucidated.
The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors
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