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Study identifies genes associated with genomic expansions that cause disease
Date:9/10/2012

A study of more than 6,000 genes in a common species of yeast has identified the pathways that govern the instability of GAA/TTC repeats. In humans, the expansions of these repeats is known to inactivate a gene FXN which leads to Friedreich's ataxia, a neurodegenerative disease that is currently incurable. In yeast, long repeats also destabilize the genome, manifested by the breakage of chromosomes.

Working with collaborators at Tufts University, researchers at the Georgia Institute of Technology identified genetic deficiencies associated with the instability of the repeats in four different classes of genes that control replication, transcription initiation, checkpoint response and telomere maintenance. They were surprised to find that the GAA/TTC repeats could promote gene expression in yeast, suggesting that the repeats may play both positive and negative roles in cells.

While the study examined the repeat metabolisms in the yeast Saccharomyces cerevisiae, the researchers believe their discoveries may have implications for human disease because many components of genetic machinery have been conserved in evolution.

The study was reported online Sept. 6 in the journal Molecular Cell. The research was supported by the National Institutes of Health (NIH) and the National Science Foundation (NSF).

The expansions occur in GAA/TTC sequences located on the FXN gene that plays a vital role in cell metabolism. Patients with Friedreich's ataxia can have as many as 1,700 copies of the nucleotide sequence, compared to fewer than 65 copies in individuals without the genetic expansion. Although not yet observed in humans, in yeast the expanded repeats can cause chromosomal fragility, which despite cellular repair mechanisms can produce errors resulting in dramatic genomic rearrangements.

"How these expansions happen is a very mysterious process, and we do not know why some people get the disease and some peo
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Contact: John Toon
jtoon@gatech.edu
404-894-6986
Georgia Institute of Technology Research News
Source:Eurekalert  

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