Mutational Analysis of JAK1 gene in Human Hepatocellular Carcinoma

Title
Mutational Analysis of JAK1 gene in Human Hepatocellular Carcinoma
Authors
사홍건배현진노지헌은정우J.K. Kim정광화류재천Y.M. AhnS.Y. KimS.H. LeeN.J. YooJ.Y. LeeW.S. Park남석우
Keywords
JAK1 gene; hepatocellular carcinoma; mutation
Issue Date
2009-04
Publisher
Neoplasma
Citation
VOL 56, NO 2, 136-140
Abstract
The Janus kinase 1 (JAK1) gene encodes a cytoplasmic tyrosine kinase that is noncovalently associated with a variety of cytokine receptors and plays a nonredundant role in cell proliferation, survival, and differentiation. The mutated forms of JAK1 often altered the activation of JAK1 and then changed the activation of JAK1/STAT pathways, and this may contribute to cancer development and progression. Thus, to investigate whether genetic mutations of JAK1 gene are associated in hepatocellular carcinoma (HCC) progression, we analyzed genetic alterations of JAK1 gene in 84 human HCCs by singlestrand conformational polymorphism (SSCP) and direct sequencing. Of 24 exons of JAK1 gene, 12 exons were previously reported to have mutations, we searched genetic alteration of JAK1 in these exons. Overall, one missense mutation (1.2%) was found. In addition, 12 cases (14%) were found to have single nucleotide polymorphism (14%) in exon 14. Taken together, we found one novel missense mutation of JAK1 gene in hepatocellular carcinomas with some polymorphisms. Although the functional assessment of this novel mutant remains to be completed, JAK1 mutation may contribute to the tumor development in liver cancer.
URI
https://pubs.kist.re.kr/handle/201004/35817
ISSN
0028-2685
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KIST Publication > Article
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