HYPERVARIABLE ULTRA-LONG TELOMERES IN MICE
HYPERVARIABLE ULTRA-LONG TELOMERES IN MICE
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DOI：
10.1038/347400a0
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发表时间：
1990-09-27
期刊：
影响因子：
64.8
通讯作者：
COOKE, HJ
中科院分区：
文献类型：
--
作者：
KIPLING, D;COOKE, HJ
与纤毛虫和酵母相比，脊椎动物的端粒结构和行为不太了解（参见参考文献 1）。与所有其他真核生物染色体一样，脊椎动物的染色体以一系列短重复序列终止。在脊椎动物中，该序列是 (TTAGGG)n，如原位杂交所示2,3。在人类中，这些末端重复序列的长度各不相同，在血细胞中平均约为 10 KB4-6。在这里，我们报告了小鼠端粒上存在的末端重复的结构和遗传。 (TTAGGG) 核酸比人类端粒上的核酸大很多倍。由于体细胞分裂过程中它们的长度保持不变，因此它们被解析为多个长达 150 KB 的离散限制性片段。引人注目的是，这种带型在近交小鼠群体中具有高度多态性，表明突变率异常高。事实上，尽管条带模式主要以孟德尔方式遗传，但新大小的 (TTAGGG) 片段经常出现在家庭研究中。
TELOMERE structure and behaviour is less well understood in vertebrates than it is in ciliates and yeasts (reviewed in ref. 1). Like all other eukaryotic chromosomes, those of vertebrates terminate in an array of a short repeated sequence. In vertebrates this sequence is (TTAGGG)n, as shown byin situhybridization2,3. In humans, these terminal repeats are heterogeneous in length, averaging about 10 kilobases in blood cells4–6. Here we report the structure and inheritance of the terminal repeats present at mouse telomeres. The (TTAGGG)ntracts are many times larger than those present at human telomeres. Because of their constancy in length through somatic cell divisions, they are resolved as multiple discrete restriction fragments of up to 150 kilobases. Strikingly, this banding pattern is highly polymorphic within populations of inbred mice, suggesting an unusually high mutation rate. Indeed, although the banding pattern is inherited in a largely mendelian fashion, (TTAGGG)ntracts of new size appear frequently in family studies.