Fig. 1: E1321fs mutation encodes the C-terminal IDR-truncated CHD1.
From: Condensation-dependent interactome of a chromatin remodeler underlies tumor suppressor activities
a Schematic showing the somatic mutations in CHD1 across human cancers (TCGA database) with the number of single amino acid mutations. The colored circles specify the mutation types. The functional domains within CHD1 are depicted below. The most prevalent mutation in cancers is a frameshift mutation at E1321 (E1321fs), resulting from adenine deletion or duplication at position 3960. WT: wild-type. b Distribution of E1321fs mutation in primary cancer sites and associated cancer types (upper). Identification of cell lines harboring E1321fs mutation (lower). c Heterozygous expression of CHD1WT and CHD1E1321fs mRNA in 22Rv1 cells. CHD1E1321fs mRNA introduces a stop codon at amino acid 1341, resulting in a C-terminus truncated CHD1 protein. d PONDR score analysis of CHD1 (upper) and schematic representation of CHD1WT and domain-deleted variants (lower). e HS-AFM captures single-molecule live imaging of CHD1WT, revealing the presence of IDRs at both the N- and C-terminus. Scale bar, 10 nm. Schematic diagrams depicting the domains of CHD1WT. Consistent molecular shapes were observed across three independent experiments.
