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. Author manuscript; available in PMC: 2015 Apr 24.
Published in final edited form as: Cell. 2014 Apr 24;157(3):636–650. doi: 10.1016/j.cell.2014.02.058

Figure 3. Allele frequencies and modeling of the CLP1 mutation.

Figure 3

(A) B-allele frequency plots for chromosome 11 in the five families. The eleven affected individuals share a common 11.5 Mb region of absence of heterozygosity (AOH) in the proximal long arm of the chromosome, including the CLP1 gene. The location of the gene is marked with a red line. The shared region of AOH extends across the centromere to the proximal short arm of the chromosome. AOH figure for family HOU1981 was created from whole exome data. (B) Interactome of CLP1 with subunits of the TSEN complex (green), mRNA splicing factors and components of the mRNA 3' end cleavage and polyadenylation complex (red), or genes involved in cell cycle control and cell death such as p53, ATM1, BRCA1, MDM1, or VRK1 (blue). (C) Sequence alignment of human CLP1 with CLP1 in other species. R140 is a conserved residue across all vertebrates. (D) Crystal structure of the yeast Clp1 proteins (Noble et al., 2007) illustrating its domain architecture. The highlighted Lys149 is positioned at the interface of the N-terminal and middle domains and is predicted to define the relative orientation of these domains. The zoomed-in image shows two glutamate residues of the N-terminal domain interacting with Lys149 that protrudes from the middle domain.