Identifying Genetic and Epigenetic Mechanisms Regulating Gene Expression
Author Information
Author(s): David Serre, Scott Gurd, Ge Bing, Robert Sladek, Donna Sinnett, Eef Harmsen, Marina Bibikova, Eugene Chudin, David L. Barker, Todd Dickinson, Jian-Bing Fan, Thomas J. Hudson
Primary Institution: McGill University
Hypothesis
Can a robust method be developed to measure differences in allelic expression for a large number of genes?
Conclusion
The study confirms that differential allelic expression is a widespread phenomenon affecting the expression of 20% of human genes.
Supporting Evidence
- The method allows reliable identification of differences in the relative expression of the two alleles larger than 1.5-fold.
- Analysis of more than 80 individuals for 2,968 SNPs confirmed that differential allelic expression affects 20% of human genes.
- The approach can identify allelic expression differences due to epigenetic mechanisms of gene regulation.
- Results show that biology, not experimental variability, is responsible for the observed patterns of allelic expression.
Takeaway
Scientists found a way to see how different versions of genes are turned on or off in people, which helps us understand why some people get sick.
Methodology
The study used the Illumina Allele-Specific Expression BeadArray platform and quantitative sequencing of RT-PCR products to measure allelic expression differences.
Potential Biases
Potential bias due to the limited genetic diversity of the lymphoblastoid cell lines used.
Limitations
The study's findings may not be generalizable beyond the specific cohort of individuals studied.
Participant Demographics
Participants were individuals of European ancestry.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website