Department of Laboratory Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
HPB (Oxford). 2007;9(6):444-6. doi: 10.1080/13651820701660421.
The bile salt export pump mediates uphill canalicular bile acid secretion. Inherited dysfunction of the bile salt export pump causes a progressive and a benign form of familial intrahepatic cholestasis. Mutations within the bile salt export pump gene are reported. Presently, prediction of protein nanostructure and function is a great challenge in the proteomics and structural genomics era. Identification of the point vulnerable to mutation is a new trend to expand knowledge on disorders at the genomic and proteomic level of diseases.
A bioinformatic analysis was performed to study the positions that determine peptide motifs in the amino acid sequence of the bile salt export pump. To identify the weak linkage in bile salt export pump, a new bioinformatic tool named GlobPlot was used.
The positions 16-34, 119-127, 451-459, 550-561, 1084-1099, 1108-1118, 1135-1140, 1211-1217, and 1314-1321 were identified as the positions prone to mutation.
Based on this study, the weak linkages in the bile salt export pump can be identified and can provide good information for expectation of possible new mutations that can lead to cross species jumping. In addition, the results from this study provide useful information for further research on the bile salt export pump.
胆汁盐输出泵介导胆小管胆汁酸分泌的逆浓度梯度转运。胆汁盐输出泵的遗传功能障碍导致进行性良性家族性肝内胆汁淤积症。目前已报道了胆汁盐输出泵基因突变。在蛋白质组学和结构基因组学时代，预测蛋白质的纳米结构和功能是一个巨大的挑战。确定易突变的关键点是在基因组和蛋白质组水平上扩展对疾病的认识的一个新趋势。
进行生物信息学分析以研究胆汁盐输出泵氨基酸序列中决定肽基序的位置。为了确定胆汁盐输出泵的弱连接，使用了一种名为 GlobPlot 的新生物信息学工具。
鉴定出 16-34、119-127、451-459、550-561、1084-1099、1108-1118、1135-1140、1211-1217 和 1314-1321 位为易突变的位置。
基于这项研究，可以确定胆汁盐输出泵的弱连接，并为预期可能导致跨物种跳跃的新突变提供良好信息。此外，本研究的结果为进一步研究胆汁盐输出泵提供了有用信息。
