Impact of constitutional copy number variants on biological pathway evolution

DSpace/Manakin Repository

Impact of constitutional copy number variants on biological pathway evolution

Citable link to this page

 

 
Title: Impact of constitutional copy number variants on biological pathway evolution
Author: Poptsova, Maria; Banerjee, Samprit; Gokcumen, Omer; Rubin, Mark A; Demichelis, Francesca

Note: Order does not necessarily reflect citation order of authors.

Citation: Poptsova, Maria, Samprit Banerjee, Omer Gokcumen, Mark A Rubin, and Francesca Demichelis. 2013. Impact of constitutional copy number variants on biological pathway evolution. BMC Evolutionary Biology 13: 19.
Full Text & Related Files:
Abstract: Background: Inherited Copy Number Variants (CNVs) can modulate the expression levels of individual genes. However, little is known about how CNVs alter biological pathways and how this varies across different populations. To trace potential evolutionary changes of well-described biological pathways, we jointly queried the genomes and the transcriptomes of a collection of individuals with Caucasian, Asian or Yoruban descent combining high-resolution array and sequencing data. Results: We implemented an enrichment analysis of pathways accounting for CNVs and genes sizes and detected significant enrichment not only in signal transduction and extracellular biological processes, but also in metabolism pathways. Upon the estimation of CNV population differentiation (CNVs with different polymorphism frequencies across populations), we evaluated that 22% of the pathways contain at least one gene that is proximal to a CNV (CNV-gene pair) that shows significant population differentiation. The majority of these CNV-gene pairs belong to signal transduction pathways and 6% of the CNV-gene pairs show statistical association between the copy number states and the transcript levels. Conclusions: The analysis suggested possible examples of positive selection within individual populations including NF-kB, MAPK signaling pathways, and Alu/L1 retrotransposition factors. Altogether, our results suggest that constitutional CNVs may modulate subtle pathway changes through specific pathway enzymes, which may become fixed in some populations.
Published Version: doi:10.1186/1471-2148-13-19
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563492/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:11180370
Downloads of this work:

Show full Dublin Core record

This item appears in the following Collection(s)

 
 

Search DASH


Advanced Search
 
 

Submitters