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

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

Citation:
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. https://www.medsci.org/v03p0148.htm
Other styles

File import instruction

Abstract

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


Citation styles

APA
Nowak, D., Mossner, M., Baldus, C.D., Hopfer, O., Thiel, E., Hofmann, W.K. (2006). Mutation Analysis of hCDC4 in AML Cells Identifies a New Intronic Polymorphism. International Journal of Medical Sciences, 3(4), 148-151. https://doi.org/10.7150/ijms.3.148.

ACS
Nowak, D.; Mossner, M.; Baldus, C.D.; Hopfer, O.; Thiel, E.; Hofmann, W.K. 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.

NLM
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. https://www.medsci.org/v03p0148.htm

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

This is an open access article distributed under the terms of the Creative Commons Attribution (CC BY-NC) License. See http://ivyspring.com/terms for full terms and conditions.
Popup Image