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卡罗来纳小鼠和家鼠β-珠蛋白基因座中LINE-1序列的广泛移动。

Extensive movement of LINES ONE sequences in beta-globin loci of Mus caroli and Mus domesticus.

作者信息

Casavant N C, Hardies S C, Funk F D, Comer M B, Edgell M H, Hutchison C A

机构信息

Department of Microbiology and Immunology, University of North Carolina, Chapel Hill 27514.

出版信息

Mol Cell Biol. 1988 Nov;8(11):4669-74. doi: 10.1128/mcb.8.11.4669-4674.1988.

Abstract

LINES ONE (L1) is a family of movable DNA sequences found in mammals. To measure the rate of their movement, we have compared the positions of L1 elements within homologous genetic loci that are separated by known divergence times. Two models that predict different outcomes of this analysis have been proposed for the behavior of L1 sequences. (i) Previous theoretical studies of concerted evolution in L1 have indicated that the majority of the 100,000 extant L1 elements may have inserted as recently as within the last 3 million years. (ii) Gene conversion has been proposed as an alternative to a history of prolific recent insertions. To distinguish between these two models, we cloned and characterized two embryonic beta-globin haplotypes from Mus caroli and compared them with those of M. domesticus. In 9 of 10 instances, we observed an L1 element to be present in one chromosome and absent at the same site in a homologous chromosome. This frequency is quantitatively consistent with the known rate of concerted evolution. Therefore, we conclude that gene conversion is not required for concerted evolution of the L1 family in the mouse. Furthermore, we show that the extensive movement of L1 sequences contributes to restriction fragment length polymorphism. L1 insertions may be the predominant cause of restriction fragment length polymorphisms in closely related haplotypes.

摘要

L1序列是在哺乳动物中发现的一类可移动DNA序列。为了测定它们的移动速率,我们比较了同源基因座内L1元件的位置,这些同源基因座由已知的分歧时间分隔开。针对L1序列的行为,已经提出了两种预测该分析不同结果的模型。(i)先前关于L1协同进化的理论研究表明,现存的10万个L1元件中的大多数可能是在最近300万年内插入的。(ii)基因转换已被提出作为近期大量插入历史的一种替代解释。为了区分这两种模型,我们从家鼠和田鼠中克隆并鉴定了两种胚胎β-珠蛋白单倍型,并将它们与小家鼠的进行了比较。在10个实例中的9个中,我们观察到一个L1元件存在于一条染色体上,而在同源染色体的相同位点上不存在。这个频率在数量上与已知的协同进化速率一致。因此,我们得出结论,小鼠中L1家族的协同进化不需要基因转换。此外,我们表明L1序列的广泛移动导致了限制性片段长度多态性。L1插入可能是密切相关单倍型中限制性片段长度多态性的主要原因。

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Pseudogenes as a paradigm of neutral evolution.假基因作为中性进化的范例。
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