Impact of 1q21.1 Copy Number Variant on Gene Function
Author Information
Author(s): Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Eva Chow, Sally Martell, Christine Tyson, Monica Hrynchak, Barbara McGillivray, Sara Hamilton, Sandra Marles, Aziz Mhanni, Angelika J Dawson, Paul Pavlidis, Ying Qiao, Jeanette J Holden, Suzanne ME Lewis, Mark O'Driscoll, Evica Rajcan-Separovic
Primary Institution: Child and Family Research Institute
Hypothesis
What are the effects of the 1q21.1 copy number variant on gene expression and function?
Conclusion
The study shows that the 1q21.1 CNV alters gene expression and function in lymphoblasts from both deletion and duplication carriers.
Supporting Evidence
- The study identified significant changes in gene expression associated with the 1q21.1 CNV.
- Functional assays showed altered protein levels for key genes in deletion and duplication carriers.
- Elevated levels of micronuclei were observed in lymphoblasts from both deletion and duplication carriers.
Takeaway
This study looked at how changes in a specific part of DNA can affect how genes work, which might help explain some health problems.
Methodology
The study involved gene expression profiling and functional assays using lymphoblastoid cell lines from subjects with 1q21.1 deletions and duplications.
Potential Biases
Potential bias due to the small number of subjects and reliance on specific cell lines.
Limitations
The study had a small sample size and focused only on lymphoblasts, which may not represent other tissues.
Participant Demographics
Eight subjects from three families, including individuals with 1q21.1 deletions and duplications.
Statistical Information
P-Value
2.5 × 10-14
Confidence Interval
null
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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