Study of SNPs Affecting Gene Expression in Mice
Author Information
Author(s): Debraj GuhaThakurta, Tao Xie, Manish Anand, Stephen W. Edwards, Guoya Li, Susanna S. Wang, Eric E. Schadt
Primary Institution: Genetics, Rosetta Inpharmatics LLC, a wholly owned subsidiary of Merck & Co., Inc.
Hypothesis
The study investigates the pattern of single nucleotide polymorphisms (SNPs) in genes showing cis-genetic linkage in segregating mouse populations.
Conclusion
The study reveals that cis-eQTL genes have a higher frequency of cis-SNPs compared to non-cis-eQTL genes, providing insights into the challenges of identifying polymorphisms regulating gene expression.
Supporting Evidence
- CEGs have a significantly higher frequency of cis-SNPs compared to non-CEGs.
- Most CEGs with cis-SNPs do not contain these SNPs in conserved regions.
- A higher fraction of CEGs harbor cis-SNPs that affect predicted transcription factor binding sites.
- The study provides insights into the challenges of identifying polymorphisms regulating gene expression.
- CEGs contain a higher density of SNPs in their promoters and non-coding regions.
Takeaway
This study looks at tiny changes in genes that can affect how they work, helping us understand why some mice might get sick while others don't.
Methodology
The study used genetic linkage mapping strategies to analyze mRNA expression data from two mouse intercross populations.
Potential Biases
Potential biases may arise from the reliance on specific genetic backgrounds and the limitations of bioinformatic methods used.
Limitations
The study's findings may not be generalizable beyond the specific mouse populations studied.
Participant Demographics
The study involved two mouse intercross populations: BXD (111 female mice) and BXH (334 mice, 169 female and 165 male).
Statistical Information
P-Value
p<0.0001
Statistical Significance
p<0.01
Digital Object Identifier (DOI)
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