Identification of polymorphic variants in human POU3F2 gene

• Main Authors: Paul - Peter Li, 李景恩
• Other Authors: Yi-Mei J Lin
• Format: Others
• Language: zh-TW
• Published: 2012
• Online Access: http://ndltd.ncl.edu.tw/handle/93447210642174641209

碩士 === 國立中興大學 === 生物醫學研究所 === 100 === POU3F2 belongs to a large family of brain-specific homeobox transcription factors that bind to an octameric DNA sequence. POU3F2 gene is expressed in the central nervous system (CNS) during neuronal development and in adult brain. POU3F2 has been proposed to participate in several important modulation of CNS-related gene expression, including melination of schwann cells, cell fate decision of neural precursor cells, melanoma metastasis and so on. Above evidences suggest its important role in regulating neuronal gene expression and may involved in pathogenesis of various neuron related diseases. Variations profiling of POU3F2 in our own population is crucial for further genetic association studies of a variety of neuron-related diseases. Here we applied the direct sequencing method to systematically screen the sequence variations of POU3F2 gene in Chinese Han population. We designed primers to amplify and sequence the single exon and up to 1 kb of 5’ regulatory regions of the human POU3F2 gene. We have systematically sequenced most of the functional regions of the human POU3F2 gene in a panel of 54 samples, We also resort our study to faster gene variation screening technology which are meant to be more effective in this type of research. High resolution melting (HRM) technology is utilized to screen POU3F2 variation region. It is interesting to know whether HRM could be more effetive than the traditional sanger sequencing technology in screening the POU3F2 gene variation. We have identified 12 single nucleotide variations (SNV) of POU3F2 gene in the chinese Han population. And two of 12 SNVs have not been reported in any public databases or literature according to our knowledge, thus they are new and probably population-specific polymorphisms in Han Chinese. Among the twelve SNVs of POU3F2 gene, three are located on 5’ flanking region, one is located on coding region, and eight are located on the 3’ untranslated region. In addition, bioinformatic tools were applied to predict the putative function of POU3F2 variations, and will be validated further functional assays. Our study will provide information that could contribute to further genetic illustration of POU3F2 gene with different CNS-related phenotype/diseases. The data of POU3F2 gene variation and genetic analysis in our research, may be a good reference for Taiwan genetic research.