Frequent mutations in the MITF pathway in melanoma
Article first published online: 29 APR 2009
This article is a US Government work and is in the public domain in the USA. 2009 John Wiley & Sons A/S
Pigment Cell & Melanoma Research
Volume 22, Issue 4, pages 435–444, August 2009
How to Cite
Cronin, J. C., Wunderlich, J., Loftus, S. K., Prickett, T. D., Wei, X., Ridd, K., Vemula, S., Burrell, A. S., Agrawal, N. S., Lin, J. C., Banister, C. E., Buckhaults, P., Rosenberg, S. A., Bastian, B. C., Pavan, W. J. and Samuels, Y. (2009), Frequent mutations in the MITF pathway in melanoma. Pigment Cell & Melanoma Research, 22: 435–444. doi: 10.1111/j.1755-148X.2009.00578.x
- Issue published online: 13 JUL 2009
- Article first published online: 29 APR 2009
- PUBLICATION DATA Received 30 December 2008, revised and accepted for publication 24 April 2009
Figure S1. Somatic mutations in the MITF gene in metastatic melanoma. In each case, the top sequence chromatogram was obtained from normal tissue and the lower sequence chromatogram from the indicated tumors. Arrows indicate the location of missense mutations. The nucleotide and amino acid alterations are indicated below the tumor chromatograms.
Figure S2. Somatic mutations in the SOX10 gene in metastatic melanoma. In each case, the top sequence chromatogram was obtained from normal tissue and the lower sequence chromatogram from the indicated tumors. The nucleotide and amino acid alterations are indicated below the tumor chromatograms.
Figure S3. MITF activates the Human Dct promoter in ARPE-19 cells. ARPE-19 cells were transiently transfected with the indicated constructs together with the HuDct-luciferase reporter construct. Firefly luciferase activities in samples were normalized to Renilla luciferase activities in the same samples. Ratios between firefly and Renilla are shown as fold activation.
Table S1. Amino acid changes or amplifications observed for each gene in 50 melanomas. “Amp” indicates amplification, “NA” indicated not amplified, “WT” indicates wild-type sequence, “MUT” indicates that the tumors contained a somatic mutation in the indicated gene (BRAF mutations are V600E and NRAS mutations are Q61R), “LOH” refers to cases wherein the wild-type allele was lost and only the mutant allele remained. Mutations in red are likely to be activating, while mutations in yellow are likely to be inactivating either because they are frameshift alterations or becuase they appear to be biallelic.
Table S2. Total number of genetic alterations detected in melanoma tumors.
Table S3. Primers used for PCR amplication and sequencing.
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Please note: Wiley Blackwell is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.