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分离性联体双胞胎:内含子小核仁 RNA 及其匹配的宿主基因可能在多种癌症类型中同时或分别发生改变。

Separated Siamese Twins: Intronic Small Nucleolar RNAs and Matched Host Genes May be Altered in Conjunction or Separately in Multiple Cancer Types.

机构信息

Laboratorio di Patologia Clinica, Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale, Università di Bologna, Via Giuseppe Massarenti 9, 40138 Bologna, Italy.

Centro di Ricerca Biomedica Applicata (CRBA), Policlinico Universitario di S. Orsola, Università di Bologna, Via Massarenti 9, 40138 Bologna, Italy.

出版信息

Cells. 2020 Feb 7;9(2):387. doi: 10.3390/cells9020387.

Abstract

Small nucleolar RNAs (snoRNAs) are non-coding RNAs involved in RNA modification and processing. Approximately half of the so far identified snoRNA genes map within the intronic regions of host genes, and their expression, as well as the expression of their host genes, is dependent on transcript splicing and maturation. Growing evidence indicates that mutations and/or deregulations that affect snoRNAs, as well as host genes, play a significant role in oncogenesis. Among the possible factors underlying snoRNA/host gene expression deregulation is copy number alteration (CNA). We analyzed the data available in The Cancer Genome Atlas database, relative to CNA and expression of 295 snoRNA/host gene couples in 10 cancer types, to understand whether the genetic or expression alteration of snoRNAs and their matched host genes would have overlapping trends. Our results show that, counterintuitively, copy number and expression alterations of snoRNAs and matched host genes are not necessarily coupled. In addition, some snoRNA/host genes are mutated and overexpressed recurrently in multiple cancer types. Our findings suggest that the differential contribution to cancer development of both snoRNAs and host genes should always be considered, and that snoRNAs and their host genes may contribute to cancer development in conjunction or independently.

摘要

小核仁 RNA(snoRNA)是参与 RNA 修饰和加工的非编码 RNA。迄今为止已鉴定出的 snoRNA 基因中,大约有一半位于宿主基因的内含子区域,它们的表达及其宿主基因的表达依赖于转录剪接和成熟。越来越多的证据表明,影响 snoRNA 及其宿主基因的突变和/或失调在肿瘤发生中起着重要作用。snoRNA/宿主基因表达失调的可能因素之一是拷贝数改变(CNA)。我们分析了癌症基因组图谱数据库中可用的数据,这些数据涉及 10 种癌症类型中 295 对 snoRNA/宿主基因对的 CNA 和表达情况,以了解 snoRNA 和与其匹配的宿主基因的遗传或表达改变是否具有重叠趋势。我们的结果表明,与直觉相反,snoRNA 和匹配的宿主基因的拷贝数和表达改变不一定相关。此外,一些 snoRNA/宿主基因在多种癌症类型中经常发生突变和过度表达。我们的研究结果表明,snoRNA 和宿主基因对癌症发展的不同贡献都应该被考虑,并且 snoRNA 和其宿主基因可能会共同或独立地促进癌症的发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf5f/7072173/5e368660c67a/cells-09-00387-g001.jpg

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