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

Hearle, Nicholas CM; Tomlinson, Ian; Lim, Wendy; Murday, Victoria; Swarbrick, Edwin; Lim, Guan; Phillips, Robin; Lee, Peter; O'Donohue, John; Trembath, Richard C; Morrison, Patrick J; Norman, Andrew; Taylor, Rohan; Hodgson, Shirley; Lucassen, Anneke; Houlston, Richard S
January 2005
BMC Genomics;2005, Vol. 6, p1
Academic Journal
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.


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