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. Author manuscript; available in PMC: 2010 Aug 1.
Published in final edited form as: Pigment Cell Melanoma Res. 2009 Apr 29;22(4):435–444. doi: 10.1111/j.1755-148X.2009.00578.x

Figure 2. Somatic mutation in tumor sample 4T results in MITF splice variant.

Figure 2

A. RT-PCR analysis of MITF expression in tumor samples. The product of the wild type MITF band is 1260bp, the 4T sample products are 1260bp, 1193bp and 1092bp. The 1193bp transcript represents a variant with a 67bp deletion from exon 2B that did not express protein by western (data not shown). The 1092bp transcript encodes the 4TΔ2B MITF variant, reduced in size by 168bp. B. Somatic mutation of the MITF gene in sample 4T. The top sequence chromatogram was obtained from normal tissue and the lower sequence chromatogram from the 4T melanoma sample. Arrow indicates the location of the mutation. C. The MITF mutation A to G transition in nucleotide 260 is located in the splice donor and leads to a loss of exon 2B (shaded area) and an mRNA molecule that is 168 nucleotides shorter than wild-type message. D. Sequence analysis of the 1260bp cDNA.