Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/28343
Title: Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome
Authors: Hearle, N.C.M
Tomlinson, I.
Lim, W.
Murday, V.
Swarbrick, E.
Lim, G.
Phillips, R.
Lee, P.
O'Donohue, J.
Trembath, Richard C.
Morrison, P.J.
Norman, A.
Taylor, R.
Hodgson, S.
Lucassen, A.
Houlston, R.S
First Published: 17-Mar-2005
Publisher: BioMed Central Ltd
Citation: BMC Genomics, 2005, 6:38
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.
DOI Link: 10.1186/1471-2164-6-38
eISSN: 1471-2164
Links: http://www.biomedcentral.com/1471-2164/6/38
http://hdl.handle.net/2381/28343
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2005 Hearle et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Appears in Collections:Published Articles, Dept. of Genetics

Files in This Item:
File Description SizeFormat 
10.1186_1471-2164-6-38.pdf224.5 kBAdobe PDFView/Open


Items in LRA are protected by copyright, with all rights reserved, unless otherwise indicated.