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. 2020 Oct;245(16):1437-1443.
doi: 10.1177/1535370220949139. Epub 2020 Aug 12.

Alternative splicing of leptin receptor overlapping transcript in osteosarcoma

Emel Rothzerg  1   2 , Xuan D Ho  3 , Jiake Xu  1 , David Wood  1 , Aare Märtson  4 , Katre Maasalu  4 , Sulev Kõks  2   5
Affiliations

Alternative splicing of leptin receptor overlapping transcript in osteosarcoma

Emel Rothzerg et al. Exp Biol Med (Maywood). 2020 Oct.

Abstract

Osteosarcoma (OS, also known as osteogenic sarcoma) is the most common primary malignancy of bone in children and adolescents. The molecular mechanisms of OS are extremely complicated and its molecular mediators remain to be elucidated. We sequenced total RNA from 18 OS bone samples (paired normal-tumor biopsies). We found statistically significant (FDR <0.05) 26 differentially expressed transcript variants of LEPROT gene with different expressions in normal and tumor samples. These findings contribute to the understanding of molecular mechanisms of OS development and provide encouragement to pursue further research.

Keywords: LEPROT; Osteosarcoma; RNA sequencing; alternative splicing; osteogenic sarcoma; transcriptome.

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Figures

Figure 1.
Figure 1.
Mean-average (MA)-plot of normalized mean expression versus log2-fold change. The red marks represent the log of fold change versus average normalized count per exon that are significant (FDR <0.05). The red triangles represent exons with log2-fold change greater than 2 or less than −2. The grey marks and triangles represent non-significant results. (A color version of this figure is available in the online journal.)
Figure 2.
Figure 2.
DEXseq analysis on RNA-Seq data. The x-axis shows individual exons within LEPROT gene, whereas the y-axis represents exon expression (a), exon usage (b), and normalization counts (c). The bars below the x-axis represent exons. The lines between the exons are introns. The numbers at the bottom are genomic locations of LEPROT. A highlights the fitted expression values of each of the exons of LEPROT gene for normal (red) and tumor (blue) samples. B visualizes exon usage in the gene. The exon in purple (E014, E040 and E042) and 26 purple lines between the bars and exon names indicate a significant differential exon usage (FDR < 0.05), whereas E037 revealed insignificant splicing (FDR > 0.05). C shows the comparison of exon expression between the samples. (A color version of this figure is available in the online journal.)
See this image and copyright information in PMC

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