具有细分重复的瘤抑制基因容易发生体质删除和结构变异
Ziheng Huang1, Lin Zhang2, Huarong Chen1
1Chinese University of Hong Kong, Hong Kong, Hong Kong.
Cancer research
|May 14, 2025
概括
分段重复 (SDs) 是基因组区域容易发生改变. 在进化过程中,瘤抑制基因 (TSG) 中的SD损失通过减少体质变化来保护癌症.
科学领域:
- 基因组学就是基因组学.
- 癌症生物学 癌症生物学
- 进化遗传学 进化遗传学
背景情况:
- 分段重复 (SDs) 是具有高序列同质性的基因组区域,被称为染色体重排的热点.
- 这些区域与副本数和单核酸变异有关,并且可能代表不稳定的基因组区域,易受人类癌症体质变化的影响.
研究的目的:
- 调查SDs的基因组位置与癌症相关的基因有关.
- 确定这些区域对癌症体质变化的倾向.
主要方法:
- 在哺乳动物物种中对SD分布的比较分析.
- 对瘤抑制基因 (TSG) 的全癌症分析及其与SDs的关联.
- 重新分析关于DNA复制时间和应激反应的实验数据.
主要成果:
- 与大多数哺乳动物物种的非癌症基因相比,瘤抑制基因 (TSG) 与SDs的关联较小.
- 在人类中,具有SD的TSG较大,但保存程度较低;与SD的关联随着TSG的基因年龄而降低.
- 具有SD的TSG更容易受到删除和结构变异的影响,复制较晚,并且在复制压力下容易产生容易发生错误的DNA合成.
结论:
- 在哺乳动物进化过程中,TSG的SD损失似乎是防止瘤形成的保护机制.
- 这种进化过程减少了关键癌症相关基因体质变化的可能性.
相关概念视频
Loss of Tumor Suppressor Gene Functions
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.
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...
4.7K
Cancer-Critical Genes II: Tumor Suppressor Genes
7.3K
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...
7.3K
Abnormal Proliferation
4.4K
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...
4.4K
Cancers Originate from Somatic Mutations in a Single Cell
11.3K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
11.3K
The Retinoblastoma Gene
4.0K
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,...
4.0K
Cancer-Critical Genes I: Proto-oncogenes
8.6K
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...
8.6K


