Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
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 caus...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
BioMed Central
2005
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| _version_ | 1797077513455796224 |
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| author | Hearle, N Tomlinson, I Lim, W Murday, V Swarbrick, E Lim, G Phillips, R Lee, P O'Donohue, J Trembath, R Morrison, P Norman, A Taylor, R Hodgson, S Lucassen, A Houlston, R |
| author_facet | Hearle, N Tomlinson, I Lim, W Murday, V Swarbrick, E Lim, G Phillips, R Lee, P O'Donohue, J Trembath, R Morrison, P Norman, A Taylor, R Hodgson, S Lucassen, A Houlston, R |
| author_sort | Hearle, N |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T00:19:08Z |
| format | Journal article |
| id | oxford-uuid:7be9a52c-1f26-4df3-87f1-264f1cf14ee2 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:19:08Z |
| publishDate | 2005 |
| publisher | BioMed Central |
| record_format | dspace |
| spelling | oxford-uuid:7be9a52c-1f26-4df3-87f1-264f1cf14ee22022-03-26T20:53:41ZSequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:7be9a52c-1f26-4df3-87f1-264f1cf14ee2EnglishSymplectic Elements at OxfordBioMed Central2005Hearle, NTomlinson, ILim, WMurday, VSwarbrick, ELim, GPhillips, RLee, PO'Donohue, JTrembath, RMorrison, PNorman, ATaylor, RHodgson, SLucassen, AHoulston, R 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. |
| spellingShingle | Hearle, N Tomlinson, I Lim, W Murday, V Swarbrick, E Lim, G Phillips, R Lee, P O'Donohue, J Trembath, R Morrison, P Norman, A Taylor, R Hodgson, S Lucassen, A Houlston, R Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. |
| title | Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. |
| title_full | Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. |
| title_fullStr | Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. |
| title_full_unstemmed | Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. |
| title_short | Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. |
| title_sort | sequence changes in predicted promoter elements of stk11 lkb1 are unlikely to contribute to peutz jeghers syndrome |
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