乳腺癌相关未知基因FAM83H的初步分析及其在多个肿瘤细胞系表达的验证

The initial analysis and expression validation in several kinds of tumor cell lines of breast cancer related unknown gene FAM83H

目的:运用生物信息学对乳腺癌相关的未知功能基因FAM83H进行初步分析,为进一步的实验研究提供信息。方法:从CGAP(Cancer Genome Anatomy Project)的SAGE Digital Gene Expression Displayer(DGED)数据库中选取乳腺肿瘤和正常乳腺组织文库中表达差异具有显著性意义的基因,从中筛选出一条在乳腺癌中高表达的未知功能基因FAM83H。对该基因的基因结构、亚细胞定位,编码产物的理化性质、功能位点、蛋白质的结构和功能域进行预测和分析,并通过RT-PCR实验验证该基因在多种肿瘤细胞系中的表达情况。结果:通过SAGE DGED发现共有表达差异基因185条,对FAM83H的结构和功能进行了有效的预测,基本明确该基因编码一种核蛋白,具有PLDc的活性位点和DUF1669功能域,可能参与肿瘤发生和转移中的信号转导和基因表达调控。结论:通过生物信息学分析,表明FAM83H是一个与肿瘤发生和转移有关的潜在研究靶点,并通过初步实验验证了该基因的表达情况,为进一步研究奠定了基础。

Objective：To analyse an unknown gene FAM83H which is related to breast cancer and provide necessary data for further works. Methods： We screened two types of statistically significant SAGE tags（ long and short） from SAGE Digital Gene Expression Displayer（DGED） of Cancer Genome Anatomy Project（CGAP） between breast cancer pool and normal breast tissue pool, then extract the common genes represented by these tags. Among these genes, a function unknown gene named FAM38H that highly expressed in breast cancer tissues was selected. Predictions and analysis were performed on its gene structure, subcellular location, physical and chemical characters of the coding products, structures and function domains/motifs. Results： Total of 185 differential expressed gene tags were screened by SAGE DGED. Significant predictions were made on the structures and functions of FAM38H. It is basically clear that this gene codes a nuclear protein, which has PLDc active motif and DUF1669 function domain, and may act in the signal transduction and gene expression controlling during tumorgenesis and metastasis. Its expressions in multiple tumor cell lines were confirmed by RT -PCR. Conclusion： FAM38H is a potential target relevant to tumorgenesis and metastasis, and applied elementary laboratory method to detect its expression profiles.