一项对癌细胞系的调查揭示了 DNA 和 mRNA 内部以及它们之间高度结构化和层次化的关系,这些关系可能是选择的结果。
A survey of cancer cell lines reveals highly structured and hierarchical relationships within and between DNA and mRNA that may be the result of selection.
机构信息
Rosetta Inpharmatics LLC, Seattle Washington, USA.
出版信息
OMICS. 2010 Feb;14(1):91-7. doi: 10.1089/omi.2009.0114.
Copy number variation (CNV) is one of the most profound forms of somatic DNA changes that underlie most human cancers. However, the degree of complexity within and between DNA and mRNA variations in cancer cohorts has yet to be fully characterized. Here we characterized the connectivity of CNV/CNV and its contribution to transcriptome in human cancer cell lines. Strikingly, we found there is a significant nonrandom correlation of many unlinked DNA loci and also a significant association between CNV and mRNA expression in cis and in trans (called eCNV). Both distributions of DNA/DNA and DNA/mRNA associations exhibit a scale-free structure showing that, for DNA/DNA, a few loci correlate to many other loci, whereas most loci correlate to only a few loci; and for DNA/mRNA, certain chromosomal loci associate with many mRNAs and that many mRNAs are controlled by more than one locus. This suggests that a small number of DNA loci act as hubs in a hierarchical structure that is highly nonrandom in nature, and genes linking to these hot spots tend to be involved in similar biological functions. Derivation of highly connected structures suggests a process of undirected copy number changes followed by selection of those advantageous to tumor cells during tumorigenesis. Given that the cohort includes many tissue types, our observations may identify a common and important underlying structure present in human tumors.
拷贝数变异 (CNV) 是导致大多数人类癌症的最深刻的体细胞 DNA 变化形式之一。然而,癌症队列中 DNA 和 mRNA 变异的复杂性程度尚未得到充分描述。在这里,我们描述了 CNV/CNV 的连通性及其对人类癌细胞系转录组的贡献。引人注目的是,我们发现许多不相关的 DNA 基因座之间存在显著的非随机相关性,并且 CNV 与顺式和反式的 mRNA 表达之间也存在显著关联(称为 eCNV)。DNA/DNA 和 DNA/mRNA 关联的两个分布都表现出无标度结构,表明对于 DNA/DNA,少数基因座与许多其他基因座相关,而大多数基因座仅与少数基因座相关;对于 DNA/mRNA,某些染色体基因座与许多 mRNAs 相关,并且许多 mRNAs 受多个基因座控制。这表明少数 DNA 基因座作为分层结构中的枢纽发挥作用,这种结构在本质上高度非随机,与这些热点相关的基因往往参与相似的生物学功能。高度连接结构的出现表明,在肿瘤发生过程中,存在一个不受控制的拷贝数变化过程,随后选择有利于肿瘤细胞的变化。鉴于该队列包括许多组织类型,我们的观察结果可能确定了人类肿瘤中存在的一种常见且重要的潜在结构。