Int J Med Sci 2006; 3(4):148-151. doi:10.7150/ijms.3.148

Short Research Communication

Mutation Analysis of hCDC4 in AML Cells Identifies a New Intronic Polymorphism

Daniel Nowak, Maximilian Mossner, Claudia D. Baldus, Olaf Hopfer, Eckhard Thiel, Wolf-Karsten Hofmann

Department of Hematology, Oncology and Transfusion Medicine, Charité, University Hospital Benjamin Franklin, Berlin, Germany

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Nowak D, Mossner M, Baldus CD, Hopfer O, Thiel E, Hofmann WK. Mutation Analysis of hCDC4 in AML Cells Identifies a New Intronic Polymorphism. Int J Med Sci 2006; 3(4):148-151. doi:10.7150/ijms.3.148. Available from

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hCDC4 (FBW7, FBXW7) is a new potential tumor suppressor gene which provides substrate specificity for SCF (Skp–Cullin–F-box) ubiquitin ligases and thereby regulates the degradation of potent oncogenes such as cyclin E, Myc, c-Jun and Notch. Mutations in the hCDC4 gene have been found in several solid tumors such as pancreas, colorectal or endometrial cancer. We carried out a mutation analysis of the hCDC4 gene in 35 samples of patients with Acute Myeloid Leukemia (AML) to elucidate a possible role of hCDC4 mutations in this disease. By direct DNA sequencing and digestion with Surveyor nuclease one heterozygous mutation in the 5' untranslated region of exon 1, transcript variant 3 was detected. Additionally, we could identify a new intronic SNP downstream of exon 10. The new variation was present in 20% of AML samples and was furthermore confirmed in a panel of 51 healthy individuals where it displayed a frequency of 14%. In conclusion we provide first data that in contrast to several solid tumors, mutations in the hCDC4 gene may not play a pivotal role in the pathogenesis of AML. Furthermore, we describe a new intronic polymorphism with high frequency in the intron sequence of the hCDC4 gene.

Keywords: hCDC4, AML, Mutation Analysis, SNP