한국인 결장암세포주 세 개를 대상으로 array-비교유전체 보합법을 시행한 결과 다양한 염색체 이상 및 유전자의 증폭과 결실이 발견되었다. 기존의 결장암 연구에서 알려져 있는 염색체 1p, 1q, 2q, 8p, 8q 부위의 증가와 염색체 4q, 14q, 20p 부위의 감소를 본 연구에서도 확인하였고, 14q32.33, 16p13.3, 16q24.3 부위의 증가와 9q13, Yq11.223 부위의 감소는 본 연구를 통하여 새롭게 발견되었다. 또한 본 연구를 통하여 다양한 유전자의 변화를 확인하였다. 세 개의 결장암세포주 모두에서 공통적으로 증가한 유전자는 1q22, 1q32.1, 2q35, 8p12, 8q22.3, 14q32.33, 16p13.3, 16q24.3에 위치하고, 감소한 유전자는 9q13, 14q32.33, 20p12.1, Yq11.223에 위치한다. 다른 대장암 연구에서도 확인된 ELF 3, AAMP 유전자의 증가를 본 연구에서도 확인하였고, 다른 암연구에서 암을 유발하는 것으로 알려진 GON4L, TIMM17A, RNPEP,TMBIM1, GPBAR1, PPP1R13B 그리고 SOX8 유전자를 본 연구를 통해 결장암에서도 증가하는 것으로 처음 확인하였다. 또한 암발생과 관련된 염색체 부위에서 확인되었지만, 그 기능이 밝혀지지 않은 PNKD, ODF1, CBWD3, C20orf133 그리고 RBMY2SP 유전자를 확인하였다. 새롭게 밝혀진 이들 유전자들은 결장암의 발생 또는 진행과 관련된 후보 유전자일 것으로 판단되며, 향후 기능적 연구를 통해 그 관련성의 규명이 요구된다.Cancer development is accompanied by genetic events like losses, gains and amplification of certain
chromosome regions or alterations of chromatin structure. Array-based CGH (Array-CGH) is a highly comprehensive,
sensitive and fast technique to allow investigation of general changes in target oncogenes and tumor suppressor genes.
Recently, the prevalence of colon cancer is rapidly increasing in Korea and now it is the fourth leading cause of cancer
death. So, the purpose of this study is to examine genomic alterations in colon cancer cell lines and to search novel
genes which might be related to the development of colon cancer. In this study, genomic alterations are analyzed by
using array-CGH in three colon cell lines from Korean, SNU-81, SNU-407 and SNU-1047. We observed numerous
chromosomal imbalances from all cell lines. The common chromosomal gains were observed in 1p36.33, 1q22, 1q32.1,
2q35, 8p12, 8q22.3, 14q32.33, 16p13.3, and 16q24. Common chromosomal losses were found in 4q22.1, 9q13, 14q21.1,
14q32.33, 20p12.1, Xq21.1, and Yq11.223. Gains of 1p, 2q, 8p, and 8q or losses of 4q, 14q and 20p are already known
to be associated with the colon cancer development. For gene alterations, we could see gains of some genes such as
ELF3 and AAMP, which were already reported to be associated with colon cancer. Also, we could find some gene
alterations which were known to be associated with other cancer types. These genes were GON4L, RNPEP, TMBIM1,
TIMM17A, GPBAR1, PPP1R13B and SOX8. Besides, we found alterations of new genes such as PKND and LEPROTL1.
The association of these genes with colon cancer is first demonstrated here. These genes may be the novel candidate
genes functioning in the development of colon cancer. In conclusion, array-CGH demonstrated the complexity of genetic
aberrations in several colon cell lines. These data about the patterns of genomic alterations could be a basic step for
understanding more detailed genetic events in the carcinogenesis and also provide information about possible target
genes for diagnosis and treatment in colon cancer.