Allshire R C, Dempster M, Hastie N D
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
Nucleic Acids Res. 1989 Jun 26;17(12):4611-27. doi: 10.1093/nar/17.12.4611.
Using a combination of different oligonucleotides and restriction enzymes we have examined the gross organisation of repeats within the most distal region of human chromosomes. We demonstrate here that human telomeres do not contain a pure uniform 6 base pair repeat unit but that there are at least three types of repeat. These three types of repeat are present at the ends of most or all human chromosomes. The distribution of each type of repeat appears to be non-random. Each human telomere has a similar arrangement of these repeats relative to the ends of the chromosome. This could reflect differences in the functions that they perform, or might result from the mutation and correction processes occurring at human telomeres. The number of repeat units, the repeat types and arrangement differs at mouse telomeres. Analysing the change in length of the telomeric repeat region between an individuals blood and germline DNA reveals that this is due to variable amounts of the TTAGGG repeat and not the other repeat types. This organization of repeat units at human telomeres will only be confirmed upon the isolation and sequencing of full length (10-15 kb), intact human telomeres.
我们使用不同的寡核苷酸和限制性内切酶组合,研究了人类染色体最远端区域内重复序列的总体组织情况。我们在此证明,人类端粒并不包含纯粹均匀的6碱基对重复单元,而是至少存在三种类型的重复序列。这三种类型的重复序列存在于大多数或所有人类染色体的末端。每种重复序列的分布似乎并非随机。相对于染色体末端,每个人类端粒都有类似的这些重复序列排列方式。这可能反映了它们所执行功能的差异,或者可能是人类端粒发生的突变和校正过程导致的。小鼠端粒的重复单元数量、重复类型和排列方式有所不同。分析个体血液和生殖系DNA中端粒重复区域长度的变化表明,这是由于TTAGGG重复序列数量可变,而非其他重复类型。人类端粒重复单元的这种组织情况,只有在分离并测序全长(10 - 15 kb)完整人类端粒后才能得到证实。