Allshire R C, Gosden J R, Cross S H, Cranston G, Rout D, Sugawara N, Szostak J W, Fantes P A, Hastie N D
MRC Clinical and Population Cytogenetics Unit, Western General Hospital, Edinburgh, UK.
Nature. 1988 Apr 14;332(6165):656-9. doi: 10.1038/332656a0.
The ends (telomeres) of eukaryotic chromosomes must have special features to ensure their stability and complete replication. Studies in yeast, protozoa, slime moulds and flagellates show that telomeres are tandem repeats of simple sequences that have a G-rich and a C-rich strand. Mammalian telomeres have yet to be isolated and characterized, although a DNA fragment within 20 kilobases of the telomeres of the short arms of the human sex chromosomes has been isolated. Recently we showed that a chromosome from the fission yeast Schizosaccharomyces pombe could, in some cases, replicate as an autonomous mini-chromosome in mouse cells. By extrapolation from other systems, we reasoned that mouse telomeres could be added to the S. pombe chromosome ends in the mouse cells. On setting out to test this hypothesis we found to our surprise that the telomeric probe used (containing both the S. pombe and Tetrahymena thermophila repeats) hybridized to a series of discrete fragments in normal mouse DNA and DNA from a wide range of eukaryotes. We show here that the sequences hybridizing to this probe are located at the telomeres of most, if not all, human chromosomes and are similar to the Tetrahymena telomeric-repeat component of the probe.
真核生物染色体的末端（端粒）必须具备特殊特征以确保其稳定性和完整复制。对酵母、原生动物、黏菌和鞭毛虫的研究表明，端粒是简单序列的串联重复，具有一条富含G的链和一条富含C的链。尽管已分离出人类性染色体短臂端粒20千碱基范围内的一个DNA片段，但哺乳动物端粒尚未被分离和鉴定。最近我们发现，裂殖酵母粟酒裂殖酵母的一条染色体在某些情况下可作为自主微型染色体在小鼠细胞中复制。通过从其他系统推断，我们推测小鼠端粒可添加到小鼠细胞中粟酒裂殖酵母染色体的末端。在着手检验这一假设时，我们惊讶地发现，所用的端粒探针（包含粟酒裂殖酵母和嗜热四膜虫的重复序列）与正常小鼠DNA以及来自多种真核生物的DNA中的一系列离散片段杂交。我们在此表明，与该探针杂交的序列位于大多数（如果不是全部）人类染色体的端粒处，并且与探针的嗜热四膜虫端粒重复成分相似。
