在癌症驱动基因中系统检测替代开放式读取 (altORFs)
1Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze, 23/A, 43124, Parma, Italy. angelo.pavesi@unipr.it.
Journal of molecular evolution
|November 6, 2025
概括
研究人员在人类癌症基因中发现了251个新的替代开放阅读框架 (altORF). 一些altORF在哺乳动物中保存,可能代表治疗开发的癌症抗原的新来源.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 替代开放的读取框架 (altORFs) 扩大了跨物种基因的编码潜力.
- 已知在哺乳动物中存在重叠的编码区域.
- 癌症基因普查 (COSMIC) 数据库包含癌症基因中的众多核酸替代物,可能含有未表征的altORFs.
研究的目的:
- 使用预测方法在人类癌症基因中识别新型altORF.
- 调查这些新型AltORFs的保护和起源.
- 探索altORFs作为癌症抗原来源的潜力.
主要方法:
- 利用基于五个标准的预测方法,从COSMIC数据库中检测人类基因中的altORF.
- 在哺乳动物中评估了新型altORF的保护.
- 检查了初级ORF中核酸替代产生的altORF.
- 使用质谱和核糖体分析数据验证的发现.
主要成果:
- 确定了251种新的altORF,其中41种在哺乳动物中高度保存.
- 在癌症基因初级ORF中发现了60个由核酸替代引起的altORF.
- 发现了38%的新型altORFs的实验证据.
- 在RET,异酸脱酶-2和TP53基因中确定了特定的altORF.
结论:
- 该研究在人类癌症基因中发现了大量的新型altORF.
- 这些altORFs,特别是保存的,代表了潜在的新型癌症抗原.
- 这些发现表明altORFs可以为癌症诊断和治疗提供新的途径.
相关概念视频
Alternative RNA Splicing
24.6K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
24.6K
Cancer-Critical Genes II: Tumor Suppressor Genes
9.3K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.3K
Leaky Scanning
5.6K
During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA. Marilyn Kozak discovered that the sequence RCCAUGG (where R...
5.6K
Cancer-Critical Genes I: Proto-oncogenes
11.0K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
11.0K
Ribosome Profiling
4.0K
Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
4.0K


