DeBerardinis R J, Kazazian H H
Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Genomics. 1999 Mar 15;56(3):317-23. doi: 10.1006/geno.1998.5729.
The mouse genome contains several subfamilies of the retrotransposon L1. One subfamily, TF, contains 4000-5000 full-length members and is expanding due to retrotransposition of a large number of active elements. Here we studied the TF 5' untranslated region (UTR), which contains promoter activity required for subfamily expression. Using reporter assays, we show that promoter activity is derived from TF-specific monomer sequences and is proportional to the number of monomers in the 5' UTR. These data suggest that nearly all full-length TF elements in the mouse genome are currently competent for expression. We aligned the sequences of 53 monomers to generate a consensus TF monomer and determined that most TF elements are truncated near a potential binding site for a transcription initiation factor. We also determined that much of the sequence variation among TF monomers results from transition mutations at CpG dinucleotides, suggesting that genomic TF 5' UTRs are methylated at CpGs.
小鼠基因组包含逆转录转座子L1的几个亚家族。其中一个亚家族TF含有4000 - 5000个全长成员,并且由于大量活跃元件的逆转录转座而在不断扩展。在此,我们研究了TF 5'非翻译区(UTR),其包含亚家族表达所需的启动子活性。通过报告基因检测,我们发现启动子活性源自TF特异性单体序列,并且与5' UTR中单体的数量成正比。这些数据表明,小鼠基因组中几乎所有全长TF元件目前都具有表达能力。我们比对了53个单体的序列以生成一个共有TF单体,并确定大多数TF元件在一个转录起始因子的潜在结合位点附近被截断。我们还确定,TF单体之间的许多序列变异是由CpG二核苷酸处的转换突变导致的,这表明基因组TF 5' UTR在CpG处发生了甲基化。