Article
A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.
Proceedings of the National Academy of Sciences of the United States of America - 9 Mar 2004
Hefferon Timothy W, Groman Joshua D, Yurk Catherine E, Cutting Garry R
Abstract excerpt
Dinucleotide repeats are ubiquitous features of eukaryotic genomes that are not generally considered to have functional roles in gene expression. However, the highly variable nature of dinucleotide repeats makes them particularly interesting candidates for modifiers of RNA splicing when they are found near splicing signals. An example of a variable dinucleotide repeat that affects splicing is a TG repeat located...
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