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Publication : Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues.

First Author  Parker-Katiraee L Year  2008
Journal  Hum Mol Genet Volume  17
Issue  21 Pages  3263-70
PubMed ID  18678600 Mgi Jnum  J:140026
Mgi Id  MGI:3811655 Doi  10.1093/hmg/ddn222
Citation  Parker-Katiraee L, et al. (2008) Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues. Hum Mol Genet 17(21):3263-70
abstractText  Differential allelic expression has been shown to be common in mice, humans and maize, and variability in the expression of polymorphic alleles has been associated with human disease. Here, we describe the differential expression pattern of Paraoxonase-1, a gene involved in lipid metabolism and implicated in the formation of atherosclerotic lesions. We measured the expression of the murine Paraoxonase-1 gene (Pon1) in livers at different stages of embryonic development using F1 hybrid crosses and quantified the transcriptional level of both parental alleles. Using human foetal tissues, we analysed the expression of the human orthologue (PON1) and found monoallelic or preferential allelic expression in 6/7 and 4/4 samples from liver and pancreas, respectively. We observed that Pon1 does not show a parent-of-origin preference in its allelic expression, but has dramatic variations in allele-specific expression occurring throughout development. This study has important repercussions in the analysis of haplotypes at disease loci, since it implies that the expression of polymorphic alleles can be unequal and dynamic.
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