STK11/LKB1预测启动子元件中的序列变化不太可能导致黑斑息肉综合征。

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

作者信息

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

机构信息

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

出版信息

BMC Genomics. 2005 Mar 17;6:38. doi: 10.1186/1471-2164-6-38.

DOI:10.1186/1471-2164-6-38

PMID:15774015

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1084245/

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.

摘要

背景

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的黑斑息肉综合征（PJS）病例。根据其他疾病的数据可以推测，STK11/LKB1启动子元件的遗传变异可能导致PJS。

结果

对STK11/LKB1编码序列5'端的序列进行系统发育足迹分析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33例无法鉴定出STK11/LKB1突变的PJS病例进行筛查，检测由核苷酸-1090至-1472定义的假定启动子中的序列变化。鉴定出两个新的序列变化，但发现它们也存在于健康个体中。