2 ADDITIONAL POTENTIAL RETROTRANSPOSONS ISOLATED FROM A HUMAN L1 SUBFAMILY THAT CONTAINS AN ACTIVE RETROTRANSPOSABLE ELEMENT
2 ADDITIONAL POTENTIAL RETROTRANSPOSONS ISOLATED FROM A HUMAN L1 SUBFAMILY THAT CONTAINS AN ACTIVE RETROTRANSPOSABLE ELEMENT
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DOI：
10.1073/pnas.90.14.6513
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发表时间：
1993-07-15
影响因子：
11.1
通讯作者：
KAZAZIAN, HH
中科院分区：
文献类型：
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作者：
DOMBROSKI, BA;SCOTT, AF;KAZAZIAN, HH
我们之前报道过人类逆转录转座 L1 元件的分离。该元件（位于 22 号染色体 LRE-1 基因座的等位基因 L1.2B）经核苷酸序列同一性显示，是 X 染色体上因子 VIII 基因从头逆转录转座事件的直接前体，导致患者 JH-27 罹患血友病 A。我们现在报告分离出与 JH-27 母亲基因组中存在的 L1.2B 密切相关的 L1 元件亚家族的两个剩余全长成员。由于这些元件 L1.3 和 L1.4 在序列上与 L1.2B 非常相似，并且包含完整的开放阅读框 1 和 2，因此它们也可能是活性逆转录转座元件。这表明某些 L1 亚家族可能包含多种活性元素。
We have previously reported the isolation of a human retrotransposable L1 element. This element, allele L1.2B at the LRE-1 locus of chromosome 22, was shown by nucleotide sequence identity to be the direct precursor of a de novo retrotransposition event into the factor VIII gene on the X chromosome, resulting in hemophilia A in patient JH-27. We now report the isolation of the two remaining full-length members of the subfamily of L1 elements closely related to L1.2B present in the genome of the mother of JH-27. Since these elements, L1.3 and L1.4, are very similar in sequence to L1.2B and contain both open reading frames 1 and 2 intact, they are also likely to be active retrotransposable elements. This suggests that certain L1 subfamilies may contain multiple active elements.