可复制的自体基因表达变化与典型的X和Y补充体的损失,跨瘤类型
Seema B Plaisier1,2,3, Robert Phavong1, Mason Farmwald1
1School of Life Sciences, Arizona State University, Tempe, Arizona, 85281.
bioRxiv : the preprint server for biology
|October 3, 2025
概括
由于技术上的挑战,基因组分析通常不包括性染色体. 这项研究揭示了瘤中性染色体 (Y或X的损失) 的损失与癌症特征,较差的存活率和改变的基因表达有关,影响了个性化癌症护理.
科学领域:
- 基因组学就是基因组学.
- 癌症生物学 癌症生物学
- 性染色体生物学 性别染色体生物学
背景情况:
- 癌症中的性别差异是已知的,但性染色体通常被排除在基因组研究之外.
- 技术上的挑战阻碍了对性染色体拷贝数,变异和表达的分析.
研究的目的:
- 分析正常组织,瘤和细胞系中的性染色体补充.
- 为了研究性染色体改变对全基因组基因表达和癌症特征的影响.
主要方法:
- 分析了三个人类基因组数据集 (正常组织,原发性瘤,癌症细胞系).
- 性染色体补充的评估 (Y的损失,X的损失,XaXa).
- 全基因组基因表达概况和与癌症特征和患者存活率的相关性.
主要成果:
- 正常组织显示出预期的性别染色体补充;约50%的瘤/细胞系表现出改变的表达 (Y的损失,X的损失,XaXa).
- 性染色体丢失的瘤中的差异表达基因与癌症特征,可药物向和信号通路有关.
- 瘤丢失X或Y染色体 (X0) 通过基因表达聚集,不论患者的性别.
- 丢失X或Y染色体与较差的患者生存结果有关.
结论:
- 性染色体补充变化 (X或Y丢失) 在瘤中很普遍,与癌症进展和患者的结果有关.
- 这些变化显著影响全基因组基因表达,模糊了性别特异性差异.
- 将性别染色体分析纳入基因组研究对于个性化癌症病因,治疗和预后至关重要.
更多相关视频
09:37Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
2.1K
10:27Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
7.8K
相关概念视频
01:12Loss of Tumor Suppressor Gene Functions
5.9K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
5.9K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
9.4K
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...
9.4K
01:37Epigenetic Regulation
3.7K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
3.7K
01:46Epigenetic Regulation
33.5K
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
33.5K
02:23Abnormal Proliferation
5.1K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.1K
01:20The Retinoblastoma Gene
4.7K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.7K