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Open AccessResearch article

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

Nicholas CM Hearle1 email, Ian Tomlinson2 email, Wendy Lim3 email, Victoria Murday4 email, Edwin Swarbrick5 email, Guan Lim6 email, Robin Phillips7 email, Peter Lee8 email, John O'Donohue9 email, Richard C Trembath10 email, Patrick J Morrison11 email, Andrew Norman12 email, Rohan Taylor13 email, Shirley Hodgson14 email, Anneke Lucassen15 email and Richard S Houlston16 email

1  Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK

2  Molecular and Population Genetics Laboratory, Imperial Cancer Research Fund, London, UK

3  Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK

4  Dept of Medical Genetics, Yorkhill Hospital, Glasgow, UK

5  Dept of Gastroenterology, New Cross Hospital, Wolverhampton, UK

6  Dept of Gastroenterology, Epsom General Hospital, UK

7  Polyposis Registry, St. Mark's Hospital, Watford Road, Harrow, UK

8  Dept of Surgery, Hull Royal Infirmary, UK

9  Dept of Gastroenterology, University Hospital Lewisham, London, UK

10  Dept of Clinical Genetics, Leicester Royal Infirmary, Leicester, UK

11  Department of medical genetics, Belfast City Hospital, UK

12  Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK

13  Molecular Genetics Unit, St Georges Hospital Medical School, London, UK

14  Department of Clinical Genetics, St. Georges Hospital, London, UK

15  Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton, UK

16  Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK

author email corresponding author email

BMC Genomics 2005, 6:38doi:10.1186/1471-2164-6-38

Published: 17 March 2005

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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