Trans-allelic mutational effects at the Peg3 imprinted locus.
basic_science · Level V
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- Record sourced from PubMed, PMID 30335829.
- Also identified by DOI 10.1371/journal.pone.0206112 and PMC identifier 6193732.
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Abstract
How one allele interacts with the other for the function of a gene is not well understood. In this study, we tested potential allelic interaction at the Peg3 imprinted locus with several mutant alleles targeting an Imprinting Control Region, the Peg3-DMR. According to the results, maternal deletion of the Peg3-DMR resulted in 2-fold up-regulation of two paternally expressed genes, Peg3 and Usp29. These trans-allelic mutational effects were observed consistently throughout various tissues with different developmental stages. These effects were also associated mainly with the genetic manipulation of the Peg3-DMR, but not with the other genomic changes within the Peg3 locus. The observed trans-allelic effects were unidirectional with the maternal influencing the paternal allele, but not with the opposite direction. Overall, the observed mutational effects suggest the presence of previously unrecognized trans-allelic regulation associated with the Peg3-DMR.
Medical subject headings
- Kruppel-Like Transcription Factors
- Mutation
- Ubiquitin-Specific Proteases