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由一个类Alu元件插入引起的大鼠催乳素基因附近的多态性。

Polymorphism near the rat prolactin gene caused by insertion of an Alu-like element.

作者信息

Schuler L A, Weber J L, Gorski J

出版信息

Nature. 1983;305(5930):159-60. doi: 10.1038/305159a0.

Abstract

Primate Alu and rodent Alu-like elements comprise major families of mammalian small dispersed repetitive DNAs. These elements are repeated more than 10(5) times per haploid genome and are found between known genes, in introns and in satellite DNA. Their dispersion throughout the genome and the presence of directly repeated DNA sequences flanking the elements suggest, but do not prove, that they are capable of transposition. We describe here an allelic variation in the 5'-flanking region of the rat prolactin gene that offers the opportunity to examine the sequences of matching regions of two homologous chromosomes which differ in the presence of an Alu-like repetitive DNA element. Our findings support the hypothesis that these elements are integrated into the genome by generating short direct repeats of host DNA.

摘要

灵长类动物的Alu元件和啮齿动物的类Alu元件构成了哺乳动物小分散重复DNA的主要家族。这些元件在单倍体基因组中重复超过10^5次,存在于已知基因之间、内含子和卫星DNA中。它们在整个基因组中的分散以及元件两侧直接重复DNA序列的存在表明(但未证实)它们具有转座能力。我们在此描述大鼠催乳素基因5'侧翼区域的一个等位基因变异,这为检查两条同源染色体匹配区域的序列提供了机会,这两条同源染色体在一个类Alu重复DNA元件的存在情况上有所不同。我们的发现支持这样一种假说,即这些元件通过产生宿主DNA的短直接重复序列而整合到基因组中。

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