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Fig. 1 | Molecular Cancer

Fig. 1

From: E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer

Fig. 1

Description and functional characterization of p.L13_L15del variant. a The pedigree of a New Zealand family carrying the p.L13_L15del mutation is represented. Symbols with a slash indicate deceased individuals. The proband is identified with the arrowhead. Cancer or other known diseases affecting family members were indicated. The actual age or the age at the time of death is displayed below each individual. TAR denotes thrombocytopenia-absent radius syndrome and MMR stands for mismatch repair. b Schematic representation of E-cadherin comprising the signal peptide, precursor, extracellular, transmembrane and cytoplasmic domains. Multiple sequence alignment of five signal peptide sequences is shown (hEcad, human E-cadherin; chEcad, chimpanzee E-cadherin; mEcad, mouse E-cadherin; xEcad, Xenopus E-cadherin; hPcad, human P-cadherin). Conserved residues are highlighted in black boxes, and residues conserved in at least four cadherins are shown in dark grey. c Total levels of E-cadherin were analyzed by Western Blot in CHO cells transfected with vectors encoding the E-cadherin mutant p.L13_L15del, the wild-type protein, and the empty vector (Mock). α-Tubulin was used as a loading control. Band intensity was quantified and normalized against wild-type cells. Intensity average + SE is represented in the graph. d Immunofluorescence was applied to evaluate protein localization. E-cadherin is shown in green and nuclei were counterstained with DAPI (blue). e Expression profiles of mutant (red) and wild-type cells (blue) were quantified. Average intensity in each internuclear position + SE is represented in the graph. Mean and SE of fluorescence intensity at the plasma membrane (internuclear position 50) is presented. f Invasive ability mean of wild-type and p.L13_L15del mutant cells. g Average area + SE of aggregates. h Cell-cell aggregation phenotypes of the different cell lines. Representative outlines of wild-type and mutant cellular aggregates are presented on the bottom. ** represents p ≤ 0.01, *** p ≤ 0.001 and **** p ≤ 0.0001

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