Bianchi Néstor O
Laboratory of Molecular Population Genetics, IMBICE, CC 403, 1900 La Plata, Argentina.
Mutat Res. 2009 Jul-Aug;682(1):21-7. doi: 10.1016/j.mrrev.2009.02.001. Epub 2009 Feb 13.
The main Y chromosome abnormalities found in testicular cancer and other malignant diseases are microdeletions, entire chromosome loss and transcription deregulation of several genes mapping in the non-recombinant part of the Y chromosome. Yet, the role of these changes in the origin or evolution of malignancies is uncertain. The Y chromosome has experienced a long and intricate evolutionary history of deleterious, compensatory, and advantageous mutations. It is proposed that the compensatory mechanisms preventing Y decay in cancer cells are no longer working, and that deletions and gene down-expression reflect a very fast process of Y attrition. From this perspective, Y chromosome aberrations, mutations and unbalanced gene expression very likely play no role in the etiology of cell transformation, although in some forms of cancer, Y abnormalities may influence tumor progression.
在睾丸癌和其他恶性疾病中发现的主要Y染色体异常包括微缺失、整条染色体丢失以及位于Y染色体非重组部分的几个基因的转录失调。然而，这些变化在恶性肿瘤的起源或演变中的作用尚不确定。Y染色体经历了漫长而复杂的有害、补偿性和有利突变的进化历史。有人提出，防止癌细胞中Y染色体衰退的补偿机制不再起作用，而缺失和基因表达下调反映了Y染色体非常快速的损耗过程。从这个角度来看，Y染色体畸变、突变和基因表达失衡很可能在细胞转化的病因学中不起作用，尽管在某些癌症形式中，Y染色体异常可能影响肿瘤进展。
