NDLI: Effects of premature termination codon polymorphisms in the Drosophila pseudoobscura subclade

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Effects of premature termination codon polymorphisms in the Drosophila pseudoobscura subclade

Content Provider	PubMed Central
Author	Hoehn, Kenneth B. Mcgaugh, Suzanne E. Noor, Mohamed A. F.
Abstract	Premature termination codon (PTC) mutations can have dramatic effects – both adaptive and deleterious – on gene expression and function. Here, we examine the number and selective effects of PTC mutations within the Drosophila pseudoobscura subclade using 18 resequenced genomes aligned to the reference genome. We located and characterized 1679 PTC mutations in 605 genes across each of these genomes relative to the D. pseudoobscura reference genome, and use RT-PCR to confirm transcription of a subset of these genes containing PTC mutations. We confirm previous findings that genes containing PTC mutations are less selectively constrained and less broadly expressed than non-PTC containing genes, suggesting that most of these mutations are at least mildly deleterious. Further, we find highly significant codon usage bias in regions downstream of the PTC in 38 of these PTC containing genes, suggesting that some of these PTC mutations – if not alternatively spliced out of the transcript– have neutral effects. Ultimately, these analyses support the view that PTC mutations are mostly detrimental, but are nonetheless common enough in genomes that a subset could be effectively neutral.
Related Links	http://dx.doi.org/10.1007/s00239-012-9528-x
Ending Page	150
Page Count	10
Starting Page	141
File Format	PDF
ISSN	14321432
e-ISSN	14321432
Journal	Journal of molecular evolution
Issue Number	3-4
Volume Number	75
Language	English
Publisher Date	2012-10-01
Access Restriction	Open
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Molecular Biology Ecology, Evolution, Behavior and Systematics

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Erratum to: Effects of Premature Termination Codon Polymorphisms in the Drosophila pseudoobscura Subclade

Effects of Premature Termination Codon Polymorphisms in the Drosophila pseudoobscura Subclade

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Effects of premature termination codon polymorphisms in the Drosophila pseudoobscura subclade

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