A NEW RETROTRANSPOSABLE HUMAN L1 ELEMENT FROM THE LRE2 LOCUS ON CHROMOSOME 1Q PRODUCES A CHIMERIC INSERTION
A NEW RETROTRANSPOSABLE HUMAN L1 ELEMENT FROM THE LRE2 LOCUS ON CHROMOSOME 1Q PRODUCES A CHIMERIC INSERTION
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DOI：
10.1038/ng0694-143
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发表时间：
1994-06-01
期刊：
影响因子：
30.8
通讯作者：
KAZAZIAN, HH
中科院分区：
文献类型：
--
作者：
HOLMES, SE;DOMBROSKI, BA;KAZAZIAN, HH
我们在肌营养不良症患者的肌营养不良蛋白基因中发现了一个 2 kb 碱基的插入，其中包含重新排列的 L1 元件。我们克隆了该插入的前体，即第二个已知的活性人类 L1 元件。 LRE2 位点具有一个源自患者的等位基因，该等位基因与插入序列完全匹配。 LRE2 具有完美的 13-15 bp 靶位点重复、两个开放阅读框和 5' 端不寻常的 21 bp 截断，表明稍微截断的元件仍然可以逆转录转座。它与 LRE1 相差约 0.7%。 LRE2 处有一个 L1 元件，与人类染色体 1q 的 66% 相似，而黑猩猩和大猩猩基因组中不存在该元件。这些数据表明，人类基因组中存在多个活性 L1 元件，并且活性元件的通读转录本能够逆转座。
We have found a 2 kilobase insertion containing a rearranged L1 element in the dystrophin gene of a muscular dystrophy patient. We cloned the precursor of this insertion, the second known active human L1 element. The locus, LRE2, has one allele derived from the patient which matches the insertion sequence exactly. LRE2 has a perfect 13-15 bp target site duplication, two open reading frames, and an unusual 21 bp truncation of the 5' end, suggesting that a slightly truncated element can still retrotranspose. It differs from LRE1 by similar to 0.7%. There is an L1 element at LRE2 on similar to 66% of human chromosomes 1q, and the element is absent from chimpanzee and gorilla genomes. These data demonstrate that multiple active L1 elements exist in the human genome, and that a readthrough transcript of an active element is capable of retrotransposition.