Article
Background-dependent effects of polyglutamine variation in the Arabidopsis thaliana gene ELF3.
Proceedings of the National Academy of Sciences of the United States of America - 20 Nov 2012
Undurraga Soledad Francisca, Press Maximilian Oliver, Legendre Matthieu, Bujdoso Nora, Bale Jacob, Wang Hui, Davis Seth J, Verstrepen Kevin J, Queitsch Christine
Abstract excerpt
Tandem repeats (TRs) have extremely high mutation rates and are often considered to be neutrally evolving DNA. However, in coding regions, TR copy number mutations can significantly affect phenotype and may facilitate rapid adaptation to new environments. In several human genes, TR copy number mutations that expand polyglutamine (polyQ) tracts beyond a certain threshold cause incurable neurodegenerative diseases....
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