FIG. 1.
SLC45A2‐AMACR gene fusion in human malignancies. (A) Schematic diagram of the SLC45A2‐AMACR gene fusion. Top: SLC45A2 and AMACR on chromosome 5. The transcription directions are indicated. Mid: Result of chromosome rearrangement of SLC45A2 intron 2 and AMACR intron 1. The breakpoint sequences between SLC45A2 and AMACR are shown. Representative chromatogram of Sanger’s sequencing from HUH7 cells are shown. Bottom: Translation product of SLC45A2‐AMACR gene fusion; blue is the SLC45A2 domain, red is the AMACR domain. (B) Structure of the SLC45A2, AMACR, and SLC45A2‐AMACR proteins; yellow is SLC45A2, blue is the AMACR racemase domain, black stripes show the transmembrane helical segments. (C) Distribution of SLC45A2‐AMACR in human cancer cell lines; red is SLC45A2‐AMACR positive, white is SLC45A2‐AMACR negative. The names and origins of the malignancies of the cell lines are indicated. (D) Frequencies of SLC45A2‐AMACR in primary human malignancies. Each type of sample cohort is indicated. The number of samples is indicated at the top of the bar. (E) Expression of SLC45A2‐AMACR proteins in human cancers. Lanes 1‐3 are the primary HCC samples. HCC#12 and HCC#4 are negative for SLC45A2‐AMACR, while HCC#18 is positive. Lanes 4‐8: the human cancer cell lines DU145 (PCa), HEP3B (liver cancer), HEPG2 (liver cancer), H1299 (lung cancer), and HUH7 (liver cancer). (F) Immunoprecipitation to identify the SLC45A2‐AMACR chimeric protein. Top: Immunoblotting using an antibody specific for the C‐terminus of AMACR in the immunoprecipitates of antibodies specific for the N‐terminus of SLC45A2, the C‐terminus of SLC45A2, or IgG control of protein lysates from HUH7 cells. Bottom: Immunoblotting using an antibody specific for the N‐terminus (left) or C‐terminus (right) of SLC45A2 on the immunoprecipitates of antibodies specific for the C‐terminus of AMACR or IgG control of protein lysates from HUH7 cells. Abbreviations: CoA, coenzyme A; IP, immunoprecipitation; NSCLC, non‐small cell lung cancer; RCC, renal cell carcinoma; SLC45A2‐C, C‐terminus of SLC45A2; SCL45A2‐N, N‐terminus of SLC45A2; WB, western blot.