International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


Woodfine K.1, Choi JD 1, Wood AJ1, Collins JN 2, Oakey RJ 1

1 Division of Medical Genetics, GKT School of Medicine, London, United Kingdom, 2 Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, United States

Imprinted genes are expressed in a monoallelic fashion. Their pattern of expression is dependant on the parent of origin. While one allele is expressed the other allele is epigenetically silenced. Mice with uniparental disomies (UpDi) or uniparental duplications (UpDp) contain regions of the genome that have originated from just one parent of origin. RNA’s from these mice can be used to assay genes that are expressed in a parent of origin dependant manner.

RNA from mice with UpDi of Chromosome 7 has been screened using the Affymetrix GeneChip expression system. Gene expression patterns were compared in tissues from embryos with a maternal duplication verses those with a paternal duplication of Chromosome 7. Additional bioinformatic analysis ensured the best candidates for genomic imprinting were selected from the screen. Allele specific RT-PCR analysis has been used to confirm the imprinting status of seven novel imprinted genes thus far.

We present here, results from screening RNA from mice with UpDi 18 to characterise an imprinted region near the imprinted Impact gene This region is homologous to a region on human chromosome 18 known to be associated with Bipolar associated disorder (BPAD). BPAD has been associated with parent of origin affects in this region of Chromosome 18. Therefore study of the homologous region in the mouse with UpDi will be invaluable in trying to understand the parent of origin affects in BPAD and in providing candidate susceptibility genes for this disorder.

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