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Development of a Window Program for Searching CpG Island

CpG Island 검색용 윈도우 프로그램 개발

  • Kim, Ki-Bong (Department of Bioinformatics Engineering, Sangmyung University)
  • 김기봉 (상명대학교 공과대학 생명정보공학과)
  • Published : 2008.08.30

Abstract

A CpG island is a short stretch of DNA in which the frequency of the CG dinucleotide is higher than other regions. CpG islands are present in the promoters and exonic regions of approximately $30{\sim}60$% of mammalian genes so they are useful markers for genes in organisms containing 5-methylcytosine in their genomes. Recent evidence supports the notion that the hypermethylation of CpG island, by silencing tumor suppressor genes, plays a major causal role in cancer, which has been described in almost every tumor types. In this respect, CpG island search by computational methods is very helpful for cancer research and computational promoter and gene predictions. I therefore developed a window program (called CpGi) on the basis of CpG island criteria defined by D. Takai and P. A. Jones. The program 'CpGi' was implemented in Visual C++ 6.0 and can determine the locations of CpG islands using diverse parameters (%GC, Obs (CpG)/Exp (CpG), window size, step size, gap value, # of CpG, length) specified by user. The analysis result of CpGi provides a graphical map of CpG islands and G+C% plot, where more detailed information on CpG island can be obtained through pop-up window. Two human contigs, i.e. AP00524 (from chromosome 22) and NT_029490.3 (from chromosome 21), were used to compare the performance of CpGi and two other public programs for the accuracy of search results. The two other programs used in the performance comparison are Emboss-CpGPlot and CpG Island Searcher that are web-based public CpG island search programs. The comparison result showed that CpGi is on a level with or outperforms Emboss-CpGPlot and CpG Island Searcher. Having a simple and easy-to-use user interface, CpGi would be a very useful tool for genome analysis and CpG island research. To obtain a copy of CpGi for academic use only, contact corresponding author.

CpG island는 유전자의 발현 기작과 많은 관련이 있다. 포유동물 유전자의 약 $30{\sim}60$% 정도의 프로모터와 엑손부위에 CpG island가 존재 한다. 최근의 연구 결과에 따르면 CpG island의 과메틸화는 주요 암 억제유전자들을 불활성화 시켜 암을 일으키는 주요 요인이 되는 것으로 밝혀졌다. CpG island의 과메틸화는 거의 모든 암 종류에서 발견되고 있다. 따라서 CpG island를 검색하는 프로그램은 매우 중요한 의미를 갖는다. 그래서 D. Takai 와 P. A. Jones 등이 2002년 검증한 CpG island 정의 기준을 이용하여 윈도우 기반의 소프트웨어 프로그램인 CpGi를 개발하였다. CpGi는 Visual C++ 6.0로 구현하였으며, 입력서열 양식은 FASTA 포맷을 허용하도록 구성하였다. CpGi의 검색 성능을 평가하기 위해 2개의 인간 Contig, 즉, AP00524 (22번 염색체)와 NT_029490.3 (21번 염색체) 등을 대상으로 기존의 다른 CpG island 검색 프로그램인 Emboss-CpGPlot 및 CpG Island Searcher 등과 검색결과를 비교 분석하였다. CpGi에 의한 검색 결과는 다른 두 프로그램에 비해 같거나 오히려 보다 정확한 검색 결과를 보여주었다. CpGi는 사용자 친화적인 윈도우 인터페이스로 구현되어 있어 사용자가 프로그램을 구동하고 이용하기 매우 쉽고, 분석결과에 대한 이해도 용이하다. 본 프로그램은 사용자가 지정한 파라미터 값들(%GC, Obs (CpG)/Exp (CpG), 분석 윈도우 크기, 스텝크기, Gap 허용치, #CG)에 의해 CpG island의 위치를 결정하고, G+C%와 CpG island의 위치를 시각적으로 보여준다. 결과적으로, CpGi는 CpG island 관련 실험 연구자들뿐만 아니라 대용량 서열 분석 및 주석 작업을 위해 매우 유용한 도구로 활용될 수 있을 것이다.

Keywords

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