Article
RTEL1 inhibits trinucleotide repeat expansions and fragility.
Cell reports - 13 Mar 2014
Frizzell Aisling, Nguyen Jennifer H G, Petalcorin Mark I R, Turner Katherine D, Boulton Simon J, Freudenreich Catherine H, Lahue Robert S
Abstract excerpt
Human RTEL1 is an essential, multifunctional helicase that maintains telomeres, regulates homologous recombination, and helps prevent bone marrow failure. Here, we show that RTEL1 also blocks trinucleotide repeat expansions, the causal mutation for 17 neurological diseases. Increased expansion frequencies of (CTG⋅CAG) repeats occurred in human cells following knockdown of RTEL1, but not the alternative helicase...
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