Journal: PLoS ONE
Article Title: Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis
doi: 10.1371/journal.pone.0015661
Figure Lengend Snippet: (A) Proportional Venn diagram. Fractions of called SNVs identical to the Genomes Project data and dbSNP130. Only data for which the minor allele frequency or the average heterozygosity was known and below 1% were used for comparison. (B) Distribution of synonymous, missense, nonsense and mutations affecting the start or stop codon are shown in relation to all somatic mutations. (C) BMPR1A mutations p.W487R and p.E502G are located at the protein kinase domain of BMPR1A. Reference amino acids are in green, the mutated forms are shown in red. The net structure at the left lower side indicates the ATP binding domain. (D) BMPR1A mutations show decreased signaling acitivity. Activity of wt mBMPR1A, mBMPR1A E502G and mBMPR1A W487R was determined in C2C12 cells using a SMAD-responsive Luciferase reporter gene assay. Induced Luciferase activity was normalized to Renilla acitivty. The activity of untransfected cells was set to 0% and the activity of wt mBmpr1a was set to 100%. Significant differences were calculated with a two-tailed t-test and marked as: * p≤0.05, ** p≤0.01, *** p≤0.001.
Article Snippet: The activity of the wildtype mouse protein (wtmBMPR1A) and its mutants was determined by measuring induced Luciferase activity in the transiently transfected pre-myoblastic mouse cell line C2C12 (ATCC).
Techniques: Comparison, Binding Assay, Activity Assay, Luciferase, Reporter Gene Assay, Two Tailed Test