Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome..

N C M Hearle, I Tomlinson, W Lim, V Murday, E Swarbrick, G Lim, R Phillips, P Lee, J O'Donohue, R C Trembath, P J Morrison, A Norman, R Taylor, S Hodgson, A Lucassen, R S Houlston

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14 Citations (Scopus)

Abstract

Background: Germline mutations or large-scale deletions in the coding region and splice sites of STK11/LKB1 do not account for all cases of Peutz-Jeghers syndrome (PJS). It is conceivable that, on the basis of data from other diseases, inherited variation in promoter elements of STK11/LKB1 may cause PJS. Results: Phylogenetic foot printing and transcription factor binding site prediction of sequence 5' to the coding sequence of STK11/LKB1 was performed to identify non-coding sequences of DNA indicative of regulatory elements. A series of 33 PJS cases in whom no mutation in STK11/LKB1 could be identified were screened for sequence changes in the putative promoter defined by nucleotides-1090 to -1472. Two novel sequence changes were identified, but were found to be present in healthy individuals. Conclusion: These findings indicate that promoter sequence changes are unlikely to contribute to PJS
Original languageEnglish
Pages (from-to)38
Number of pages1
JournalBMC GENOMICS
Volume6
DOIs
Publication statusPublished - 17 Mar 2005

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