Mutational Analysis of JAK1 gene in Human Hepatocellular Carcinoma
- Mutational Analysis of JAK1 gene in Human Hepatocellular Carcinoma
- 사홍건; 배현진; 노지헌; 은정우; J.K. Kim; 정광화; 류재천; Y.M. Ahn; S.Y. Kim; S.H. Lee; N.J. Yoo; J.Y. Lee; W.S. Park; 남석우
- JAK1 gene; hepatocellular carcinoma; mutation
- Issue Date
- VOL 56, NO 2, 136-140
- 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.
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