Figure 1
From: A hypoxia-inducible factor 1α null splice variant lacking exon 10

Identification of a HIF1α null splice variant in a patient with a cardiac tumor. (a) Two distinct bands were clearly observed from cardiac tumor tissue samples (left). Total RNA was extracted from cardiac tumor and tumor-adjacent tissues of patient and normal heart tissues of three aborted fetuses (normal 1-3), then HIF1α cDNA was amplified by real-time PCR. HIF1α c.1257A>G was confirmed by Sanger sequencing. The lower band (373 bp) represents an alternative splice variant lacking exon 10, when compared to the sequence of the upper band (659 bp) (right). gDNA, genomic DNA. (b) Confocal microscopy photos of the 417-aa and full-length HIF1α nuclear localization in HeLa cells (scale bar, 20 μm) (left). Western blots of the 417-aa and full-length HIF1α in nuclear and cytoplasmic extracts from 293T cells (right). FH (fumarase) and Histone 3 served as positive controls for cytoplasmic and nuclear proteins, respectively. (c) Hierarchical cluster analysis of DEGs (differentially expressed genes) in Ctrl/HIF1α-417 and Ctrl/HIF1α-full samples. Representative DEGs, including PAK6 and BEND5 are validated by qPCR as indicated. Three independent experiments were performed, each sample was repeated in triplicate