Flint J, Craddock C F, Villegas A, Bentley D P, Williams H J, Galanello R, Cao A, Wood W G, Ayyub H, Higgs D R
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England.
Am J Hum Genet. 1994 Sep;55(3):505-12.
We have characterized and compared a series of naturally occurring chromosomal truncations involving the terminal region of the short arm of human chromosome 16 (16p13.3). All six broken chromosomes appear to have been stabilized by the direct addition of telomeric repeats (TTAGGG)n to nontelomeric DNA. In five of the six chromosomes, sequence analysis shows that the three of four nucleotides preceding the point of telomere addition are complementary to and in phase with the putative RNA template of human telomerase. Otherwise we have found no common structural features around the breakpoint regions. These findings, together with previously reported in vitro data, suggest that chromosome-healing events in man can be mediated by telomerase and that a small region of complementarity to the RNA template of telomerase at the end of a broken chromosome may be sufficient to prime healing in vivo.
我们已经对一系列涉及人类16号染色体短臂末端区域（16p13.3）的自然发生的染色体截短进行了表征和比较。所有六条断裂染色体似乎都通过将端粒重复序列（TTAGGG）n直接添加到非端粒DNA上而得以稳定。在六条染色体中的五条中，序列分析表明，端粒添加点之前的四个核苷酸中的三个与人类端粒酶的推定RNA模板互补且相位一致。除此之外，我们在断点区域周围未发现共同的结构特征。这些发现与先前报道的体外数据一起表明，人类中的染色体修复事件可由端粒酶介导，并且断裂染色体末端与端粒酶RNA模板的一小段互补区域可能足以在体内引发修复。
