Dombroski B A, Scott A F, Kazazian H H
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Proc Natl Acad Sci U S A. 1993 Jul 15;90(14):6513-7. doi: 10.1073/pnas.90.14.6513.
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.
我们之前报道过人类逆转录转座L1元件的分离。这个元件，位于22号染色体LRE-1位点的等位基因L1.2B，通过核苷酸序列同一性显示是X染色体上因子VIII基因一个从头逆转录转座事件的直接前体，导致患者JH-27患甲型血友病。我们现在报道从JH-27母亲的基因组中分离出与L1.2B密切相关的L1元件亚家族中另外两个全长成员。由于这些元件L1.3和L1.4在序列上与L1.2B非常相似，并且1号和2号开放阅读框均完整，它们也很可能是活跃的逆转录转座元件。这表明某些L1亚家族可能包含多个活跃元件。
