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. © 2005 Hearle et al; licensee BioMed Central Ltd.
CITATION STYLE
Hearle, N. C. M., Tomlinson, I., Lim, W., Murday, V., Swarbrick, E., Lim, G., … Houlston, R. S. (2005). Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. BMC Genomics, 6. https://doi.org/10.1186/1471-2164-6-38
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