Genome-wide assessment of imprinted expression in human cells
Author Information
Author(s): Morcos Lisanne, Ge Bing, Koka Vonda, Lam Kevin CL, Pokholok Dmitry K, Gunderson Kevin L, Montpetit Alexandre, Verlaan Dominique J, Pastinen Tomi
Primary Institution: McGill University and Genome Quebec Innovation Centre
Hypothesis
The study aims to determine allelic expression across the transcriptome in human lymphoblastoid cell lines and skin fibroblasts to validate imprinted genes.
Conclusion
The study found that widespread parent-of-origin-dependent expression observed in rodents is unlikely to be captured by assessment of human cells derived from adult tissues.
Supporting Evidence
- 43% of imprinted genes with previous evidence were validated in lymphoblasts and fibroblasts.
- Only 8% of genes suggested to be imprinted in literature were validated without clear evidence.
- Five novel imprinted genes were detected in the study.
Takeaway
The researchers looked at how genes from our parents are expressed in our cells and found that many genes thought to be imprinted actually aren't.
Methodology
The study utilized high-density genotyping arrays to measure genotypes in RNA and DNA to assess allelic expression in lymphoblastoid cell lines and skin fibroblasts.
Potential Biases
Potential bias due to the high prevalence of heritable allelic expression observed in many candidate regions.
Limitations
The study's ability to observe imprinting is limited by the access to multiple tissue types and the requirement for consistent parent-of-origin-dependent expression across genomic regions.
Participant Demographics
The study involved Caucasian and Yoruban families for the analysis of allelic expression.
Digital Object Identifier (DOI)
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