Division of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.
Ann Anat. 2010 Sep 20;192(5):284-91. doi: 10.1016/j.aanat.2010.07.005. Epub 2010 Aug 6.
The ends of human chromosomes are constituted of telomeres, a nucleoprotein complex. They are mainly formed by the entanglement of repeat DNA and telomeric and non-telomeric proteins. Telomeric sequences are lost in each cell division and this loss happens in vitro as well as in vivo. The diminution of telomere length over the cell cycle has led to the consideration of telomeres as a 'mitotic clock'. Telomere lengths are heterogeneous because they differ among tissues, cells, and chromosome arms. Cell proliferation capacity, cellular environment, and epigenetic factors are some elements that affect this telomere heterogeneity. Also, genetic and environmental factors modulate the difference in telomere lengths between individuals. Telomere length is regulated by telomere structure, telomerase, the enzyme that elongates the 3'-end of telomeres, and alternative lengthening of telomeres (ALT) used exclusively in immortalized and cancer cells. The understanding of telomere length dynamic in the normal population is essential to develop a deeper insight into the role of telomere function in pathological settings.
人类染色体的末端由端粒组成,这是一种核蛋白复合物。它们主要由重复 DNA 和端粒及非端粒蛋白的缠绕形成。每次细胞分裂都会丢失端粒序列,这种丢失既发生在体外也发生在体内。端粒长度在细胞周期中的减少使得端粒被认为是一个“有丝分裂钟”。端粒长度存在异质性,因为它们在组织、细胞和染色体臂之间存在差异。细胞增殖能力、细胞环境和表观遗传因素是影响这种端粒异质性的一些因素。此外,遗传和环境因素也调节了个体之间端粒长度的差异。端粒长度受端粒结构、端粒酶(一种能延长端粒 3' 端的酶)以及端粒的替代性延长(ALT)调节,ALT 仅在永生化细胞和癌细胞中使用。了解正常人群中端粒长度的动态变化对于深入了解端粒功能在病理状态下的作用至关重要。