突变前后FOXL2基因的生物信息学分析研究  

The bioinformatics study of normal and mutational human FOXL2 gene

作　　者：朱建莹[1,2] 李艳艳[2] 孙岩[2] 张伟[2] 唐胜建[2] 

机构地区：[1]张店区人民医院整形科,山东淄博255025 [2]潍坊医学院整形外科研究所

出　　处：《中华临床医师杂志（电子版）》2013年第8期97-101,共5页Chinese Journal of Clinicians(Electronic Edition)

基　　金：国家自然科学基金(30772268;81272122);山东省医药卫生科技发展计划项目(2011QW032);潍坊医学院教改研究项目(C2010011)

摘　　要：目的以人类基因组数据库及前期的实验结果为基础,对突变前后FOXL2基因进行生物信息学研究。方法利用BLAST程序进行FOXL2的基因结构和相似性序列搜索;对FOXL2编码蛋白进行序列结构预测和功能分析。结果 FOXL2定位于3q23,为一单外显子基因,其开放型阅读框架为1134bp,编码376个氨基酸。编码的氨基酸含有特征性的forkheadDNA结合域,为转录因子家族一员,是一跨膜蛋白。突变后的FOXL2在结构和功能上发生了改变:892C>T突变后蛋白质由376位缩短为218位,丧失了跨膜结构,球状结构变得松散;951～953delC突变后蛋白质由376位缩短为269位,膜内结构缩短;901～930dup30突变后增加了10个丙氨酸,跨膜的螺旋状结构延长。结论通过对FOXL2的生物信息学研究发现正常的FOXL2是转录因子家族成员,为一跨膜球状蛋白,通过与DNA相结合而起作用。通过对突变后FOXL2的生物信息学研究发现突变后FOXL2生物学结构与功能的改变,可能是小睑裂综合征的致病原因。Objective To analyze the gene and protein sequence of the normal and mutational FOXL2 gene with bioinformatics and explore the value of bioinformatics in the gene research. Methods Based on the human genome resource and the results which we had found in the first stage, BLAST procedure was used to analyze the gene sequence and the similarity gene ; Gene Runner 3.05 were used to predict the sequence and function of the nomal and mutational FOXL2 encoding protein. Results The full length of the FOXL2 was 2745 bp, which was located at 3q23. The ORF was 1134 bp and encodes 376 amino acid with forkhead DNA domain. Similarity research had shown that FOXL2 belonged to transcription factor. FOXL2 gene was expressed especially in ovarys and the tissues around eyes. After mutations, the structures of FOXL2 had changed sharply. The 892C 〉 T mutation results in the production of truncated proteins missing normal polyalarine tract and helical transmembrane regions. The 951-953delc mutation lead to S238fsX270 with truncated inmembrane region. The 901-930dup30 mutation caused the expansions of 10 alanine residues （222-231dup10）in the polyalatract resulting in longer helical transmembrane regions. Conclusions Bioinformics is an effective method for gene analysis. Trough the analysis, we have found FOXL2 is a transcription factor and maybe relate to development of the ovarys and the eyes. Through the analysis, we have found there are many different mechanism involved in the pathogenesis of BPES.

关 键 词：计算生物学 基因组 人 FOXL2 

分 类 号：R346[医药卫生—基础医学]