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. Author manuscript; available in PMC: 2018 May 1.
Published in final edited form as: Clin Genet. 2016 Dec 12;91(5):739–747. doi: 10.1111/cge.12887

Figure 5.

Figure 5

Functional study of P292R mutation in yeast lacking Brf1. Yellow box indicates the missense mutation identified in the current study. Yeast carrying this mutation (P292R) failed to grow in YPD agar at either 30 °C or 37 °C in the presence of 5-fluoro-orotic acid (FOA), which negatively selects against an additional plasmid expressing wild-type BRF1. The P292R mutation behaves as the P292H (10) mutation in this assay. R223W and S226L are BRF1 mutations that we previously identified in patients with the cerebellar facial dental syndrome (10) and that lead to no growth and normal growth, respectively, in this assay. W107R is a previously described artificial temperature-sensitive mutation (26).