Goodier J L, Ostertag E M, Du K, Kazazian H H
Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
Genome Res. 2001 Oct;11(10):1677-85. doi: 10.1101/gr.198301.
Unlike human L1 retrotransposons, the 5' UTR of mouse L1 elements contains tandem repeats of approximately 200 bp in length called monomers. Multiple L1 subfamilies exist in the mouse which are distinguished by their monomer sequences. We previously described a young subfamily, called the T(F) subfamily, which contains approximately 1800 active elements among its 3000 full-length members. Here we characterize a novel subfamily of mouse L1 elements, G(F), which has unique monomer sequence and unusual patterns of monomer organization. A majority of these G(F) elements also have a unique length polymorphism in ORF1. Polymorphism analysis of G(F) elements in various mouse subspecies and laboratory strains revealed that, like T(F), the G(F) subfamily is young and expanding. About 1500 full-length G(F) elements exist in the diploid mouse genome and, based on the results of a cell culture assay, approximately 400 G(F) elements are potentially capable of retrotransposition. We also tested 14 A-type subfamily elements in the assay and estimate that about 900 active A elements may be present in the mouse genome. Thus, it is now known that there are three large active subfamilies of mouse L1s; T(F), A, and G(F), and that in total approximately 3000 full-length elements are potentially capable of active retrotransposition. This number is in great excess to the number of L1 elements thought to be active in the human genome.
与人类L1逆转座子不同,小鼠L1元件的5'非翻译区包含长度约为200 bp的串联重复序列,称为单体。小鼠中存在多个L1亚家族,它们通过单体序列来区分。我们之前描述过一个年轻的亚家族,称为T(F)亚家族,在其3000个全长成员中包含约1800个活性元件。在这里,我们对小鼠L1元件的一个新亚家族G(F)进行了特征描述,它具有独特的单体序列和不寻常的单体组织模式。这些G(F)元件中的大多数在开放阅读框1中也具有独特的长度多态性。对各种小鼠亚种和实验室品系中的G(F)元件进行多态性分析发现,与T(F)亚家族一样,G(F)亚家族也很年轻且在不断扩展。二倍体小鼠基因组中存在约1500个全长G(F)元件,根据细胞培养试验的结果,约400个G(F)元件可能具有逆转座活性。我们还在试验中测试了14个A类亚家族元件,并估计小鼠基因组中可能存在约900个活性A元件。因此,现在已知小鼠L1有三个大型活性亚家族:T(F)、A和G(F),并且总共有约3000个全长元件可能具有活性逆转座能力。这个数字远远超过了人类基因组中被认为具有活性的L1元件数量。