端粒、端粒酶与人类基因组稳定性和健康的关系  

The relationships of telomere and telomerase with human genome stability and health

作　　者：李晓芳[1] 曹能[1] 徐伟江[1] 汪旭[1] 

机构地区：[1]云南师范大学生命科学学院生物能源持续开发与利用教育部工程研究中心,昆明650500

出　　处：《国际遗传学杂志》2014年第4期163-167,共5页International Journal of Genetics

基　　金：国家自然科学基金（31260268）

摘　　要：端粒是真核生物染色体末端的一段富含GC的重复序列，其功能是保持染色体阿完整性，防止染色体DNA降解、末端融合、缺失和异常重组。在端粒酶不表达的细胞中，端粒随着有丝分裂的进行而逐渐缩短，当端粒缩短到一定程度，染色体的稳定下降，可导致细胞衰老及凋亡，与人类退行性疾病有关。该文围绕端粒、端粒酶研究的新进展，从端粒与衰老、肿瘤及先天性角化不良等几个方面，总结并讨论了端粒结构与功能维护以及和基因组稳定性之间的关系。Telomere is a GC-riched repetitive sequence that at the ends of eukaryotic chromo-somes, which function is to maintain the chromosomes integrity, protect chromosomal DNA from degradation, deletion, fusion, and aberrant rearrangements. In cells that lack telomerase, telomeres shorten with each cell division due to incomplete replication of the lagging strand. Telomere attrition likely leads to chromosome instability, cellular senescence, and apoptosis. It also associate with many kinds of human degenerative diseases. This review discuss the relationship between the telomere structure, function and the genomes stability from the new study about the telomere structure, telomerase with aging, cancer and congenital dyskeratosis.

关 键 词：端粒 端粒酶 衰老 DNA修复 染色体不稳定 

分 类 号：R3416[医药卫生—基础医学]