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Article

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.

Nature structural & molecular biology - 1 Jan 2005

Hastings Michelle L, Resta Nicoletta, Traum Daniel, Stella Alessandro, Guanti Ginevra, Krainer Adrian R

Abstract excerpt

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder associated with gastrointestinal polyposis and an increased cancer risk. PJS is caused by germline mutations in the tumor suppressor gene LKB1. One such mutation, IVS2+1A>G, alters the second intron 5' splice site, which has sequence features of a U12-type AT-AC intron. We report that in patients, LKB1 RNA splicing occurs from the mutated 5' splice...

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PMID: 15608654
DOI: 10.1038/nsmb873

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