Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
复制标题
STK11/LKB1的预测启动子元素的序列变化不太可能导致Peutz-Jeghers综合征。
DOI：
10.1186/1471-2164-6-38
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发表时间：
2005-03-17
期刊：
影响因子：
4.4
通讯作者：
Houlston, Richard S
中科院分区：
文献类型：
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作者：
Hearle, Nicholas C M;Tomlinson, Ian;Lim, Wendy;Murday, Victoria;Swarbrick, Edwin;Lim, Guan;Phillips, Robin;Lee, Peter;O'Donohue, John;Trembath, Richard C;Morrison, Patrick J;Norman, Andrew;Taylor, Rohan;Hodgson, Shirley;Lucassen, Anneke;Houlston, Richard S
STK11/LKB1 编码区和剪接位点的种系突变或大规模缺失并不能解释所有黑斑息肉综合征 (PJS) 病例。根据其他疾病的数据，可以想象，STK11/LKB1启动子元件的遗传变异可能导致PJS。对 STK11/LKB1 编码序列的 5' 序列进行系统发育足印和转录因子结合位点预测，以鉴定指示调控元件的 DNA 非编码序列。对一系列 33 个 PJS 病例（其中未鉴定出 STK11/LKB1 突变）进行了筛选，以确定由核苷酸 -1090 至 -1472 定义的推定启动子中的序列变化。鉴定出两个新的序列变化，但发现它们存在于健康个体中。这些发现表明启动子序列的变化不太可能导致 PJS。
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. 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. These findings indicate that promoter sequence changes are unlikely to contribute to PJS.