Hearle, NC;
Tomlinson, I;
Lim, W;
Murday, V;
Swarbrick, E;
Lim, G;
Phillips, R;
Lee, P;
O'Donohue, J;
Trembath, RC;
et al.
Hearle, NC; Tomlinson, I; Lim, W; Murday, V; Swarbrick, E; Lim, G; Phillips, R; Lee, P; O'Donohue, J; Trembath, RC; Morrison, PJ; Norman, A; Taylor, R; Hodgson, S; Lucassen, A; Houlston, RS
(2005)
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
BMC GENOMICS, 6 (38).
ISSN 1471-2164
https://doi.org/10.1186/1471-2164-6-38
SGUL Authors: Hodgson, Shirley Victoria
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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.
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