Divisions of Human Biology and Clinical Research, Fred Hutchinson Cancer Center, Seattle, Washington.
Mol Cancer Res. 2024 Jul 2;22(7):603-612. doi: 10.1158/1541-7786.MCR-24-0105.
The Y chromosome has recognized functions in promoting male sex determination and regulating aspects of fertility. However, recent work has demonstrated important roles for the Y chromosome and Y-encoded genes in multiple domains of male health, including cancer. It is well established that males experience shorter lifespans than females, and this sex bias on overall mortality is accentuated in populations with longer life expectancy, in part related to elevated rates of cancer. The majority of human malignancies exhibit a sex bias with elevated frequencies in males. For many of these cancer types, the disparity has not been explained by environmental risk factors such as tobacco use. Notably, loss of the Y chromosome (LOY) detected in blood cells, termed mosaic LOY, is a common event that is related to advancing age and is associated with a shortened lifespan. Mosaic LOY is linked to increased incidence and mortality across a range of malignancies. Furthermore, tumors arising in different anatomic sites exhibit different frequencies of partial or complete Y chromosome loss. Causal oncogenic or tumor-suppressive roles have been documented for several Y-encoded genes, such as lysine-specific demethylase 5 D, that exert pleiotropic effects on cellular functions by virtue of genome-wide regulation of gene activity. In this review, we discuss aspects of the Y chromosome relevant to oncology. The recent completion of the entire human Y-chromosome sequence provides a reference map of Y-encoded genes and regulatory elements to enable causal molecular studies that may explain and exploit the marked disparity in male cancer risk and mortality.
Y 染色体在促进男性性别决定和调节生育方面具有公认的功能。然而,最近的研究表明,Y 染色体和 Y 编码基因在男性健康的多个领域(包括癌症)中具有重要作用。众所周知,男性的寿命比女性短,这种整体死亡率的性别偏差在预期寿命较长的人群中更为明显,部分原因是癌症发病率升高。大多数人类恶性肿瘤存在性别偏向,男性发病率较高。对于许多这些癌症类型,这种差异不能用烟草使用等环境风险因素来解释。值得注意的是,在血细胞中检测到的 Y 染色体丢失(LOY),称为镶嵌性 LOY,是一种常见事件,与年龄增长有关,并与寿命缩短有关。镶嵌性 LOY 与一系列恶性肿瘤的发病率和死亡率增加有关。此外,不同解剖部位的肿瘤表现出不同程度的部分或完全 Y 染色体丢失。几个 Y 编码基因(如赖氨酸特异性脱甲基酶 5D)的致癌或肿瘤抑制作用已被记录下来,这些基因通过对基因活性的全基因组调节对细胞功能产生多效性影响。在这篇综述中,我们讨论了与肿瘤学相关的 Y 染色体的各个方面。最近完成的整个人类 Y 染色体序列提供了一个 Y 编码基因和调节元件的参考图谱,以进行因果分子研究,这些研究可能解释和利用男性癌症风险和死亡率的显著差异。
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