The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.
Myotonic dystrophy type 2 (DM2) is a subtype of the myotonic dystrophies, caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the zinc finger protein 9 (ZNF9) gene. The expansions are extremely unstable and variable, ranging from 75-11,000 CCTG repeats. This unprecedented repeat size...
Main Authors: | Tatsuaki Kurosaki, Shintaroh Ueda, Takafumi Ishida, Koji Abe, Kinji Ohno, Tohru Matsuura |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2012-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3378579?pdf=render |
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