Merrick B Alex, Phadke Dhiral P, Bostrom Meredith A, Shah Ruchir R, Wright Garron M, Wang Xinguo, Gordon Oksana, Pelch Katherine E, Auerbach Scott S, Paules Richard S, DeVito Michael J, Waalkes Michael P, Tokar Erik J
Division of the National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, United States.
Sciome, LLC, Research Triangle Park, North Carolina, United States.
Toxicol Appl Pharmacol. 2020 Apr 25;397:115017. doi: 10.1016/j.taap.2020.115017.
CAsE-PE cells are an arsenic-transformed, human prostate epithelial line containing oncogenic mutations in KRAS compared to immortalized, normal KRAS parent cells, RWPE-1. We previously reported increased copy number of mutated KRAS in CAsE-PE cells, suggesting gene amplification. Here, KRAS flanking genomic and transcriptomic regions were sequenced in CAsE-PE cells for insight into KRAS amplification. Comparison of DNA-Seq and RNA-Seq showed increased reads from background aligning to all KRAS exons in CAsE-PE cells, while a uniform DNA-Seq read distribution occurred in RWPE-1 cells with normal transcript expression. We searched for KRAS fusions in DNA and RNA sequencing data finding a portion of reads aligning to KRAS and viral sequence. After generation of cDNA from total RNA, short and long KRAS probes were generated to hybridize cDNA and KRAS enriched fragments were PacBio sequenced. More KRAS reads were captured from CAsE-PE cDNA versus RWPE-1 by each probe set. Only CAsE-PE cDNA showed KRAS viral fusion transcripts, primarily mapping to LTR and endogenous retrovirus sequences on either 5'- or 3'-ends of KRAS. Most KRAS viral fusion transcripts contained 4 to 6 exons but some PacBio sequences were in unusual orientations, suggesting viral insertions within the gene body. Additionally, conditioned media was extracted for potential retroviral particles. RNA-Seq of culture media isolates identified KRAS retroviral fusion transcripts in CAsE-PE media only. Truncated KRAS transcripts suggested multiple retroviral integration sites occurred within the KRAS gene producing KRAS retroviral fusions of various lengths. Findings suggest activation of endogenous retroviruses in arsenic carcinogenesis should be explored.
CASE-PE细胞是一种经砷转化的人前列腺上皮细胞系,与永生化的正常KRAS亲本细胞RWPE-1相比,其KRAS基因存在致癌突变。我们之前报道过CASE-PE细胞中突变型KRAS的拷贝数增加,提示基因扩增。在此,对CASE-PE细胞中KRAS侧翼的基因组和转录组区域进行测序,以深入了解KRAS扩增情况。DNA测序和RNA测序的比较显示,CASE-PE细胞中与所有KRAS外显子比对的背景读数增加,而在转录表达正常的RWPE-1细胞中,DNA测序读数分布均匀。我们在DNA和RNA测序数据中搜索KRAS融合,发现一部分读数与KRAS和病毒序列比对。从总RNA生成cDNA后,制备了短的和长的KRAS探针与cDNA杂交,并对富集的KRAS片段进行PacBio测序。每个探针组从CASE-PE cDNA捕获的KRAS读数比RWPE-1更多。只有CASE-PE cDNA显示出KRAS病毒融合转录本,主要定位于KRAS 5'端或3'端的长末端重复序列(LTR)和内源性逆转录病毒序列。大多数KRAS病毒融合转录本包含4至6个外显子,但一些PacBio序列方向异常,提示病毒插入基因体内。此外,提取条件培养基以检测潜在的逆转录病毒颗粒。仅在CASE-PE培养基的分离物RNA测序中鉴定出KRAS逆转录病毒融合转录本。截短的KRAS转录本提示在KRAS基因内发生了多个逆转录病毒整合位点,产生了各种长度的KRAS逆转录病毒融合。研究结果表明,应探索内源性逆转录病毒在砷致癌过程中的激活情况。