Homologous recombination between the LTRs of a human retrovirus-like element causes a 5-kb deletion in two siblings.
Homologous recombination between the LTRs of a human retrovirus-like element causes a 5-kb deletion in two siblings.
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人类逆转录病毒样元件的 LTR 之间的同源重组导致两个兄弟姐妹中出现 5 kb 的缺失。
DOI：
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发表时间：
1989
影响因子：
9.8
通讯作者：
N. L. Goodchild
中科院分区：
文献类型：
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作者：
D. Mager;N. L. Goodchild
人内源性逆转录病毒样元件的RTVL-H家族由大约1，000个完整成员和相似数量的孤立长末端重复序列（LTR）组成。在这项研究中，这些元素的遗传异质性进行了研究，使用独特的侧翼探针分离的cDNA克隆含有RTVL-H序列。四个这样的探针被用来筛选一组人类DNA样本的遗传差异。其中一个探针在两个相关个体中检测到5.0 kb的缺失。克隆和DNA杂交分析表明，非缺失的共同等位基因包含一个完整的RTVL-H元件，而缺失的变异等位基因只包含一个LTR。DNA序列比较强烈地表明该缺失是由于RTVL-H序列的5'和3' LTR之间的同源重组。这是第一个报告的人类DNA变异是由于LTR-LTR切除事件。
The RTVL-H family of human endogenous retrovirus-like elements consists of approximately 1,000 intact members and of a similar number of solitary long terminal repeats (LTRs). In this study, the genetic heterogeneity of these elements has been investigated using unique flanking probes isolated from cDNA clones containing RTVL-H sequences. Four such probes were used to screen a panel of human DNA samples for genetic differences. One of these probes detected a 5.0-kb deletion in two related individuals. Cloning and DNA hybridization analysis indicated that the nondeleted common allele contained an intact RTVL-H element, whereas the deleted variant allele contained only a single LTR. DNA sequence comparisons strongly suggest that the deletion is due to homologous recombination between the 5' and 3' LTRs of the RTVL-H sequence. This is the first reported case of a DNA variation in humans that is due to an LTR-LTR excision event.
逆转录病毒诱导的 DBA 小鼠淡毛色突变的体细胞和种系回复突变率。
DOI：
10.1073/pnas.85.1.189
发表时间：
1988
影响因子：
11.1
作者：
Seperack,PK;Strobel,MC;Corrow,DJ;Jenkins,NA;Copeland,NG
通讯作者：
Copeland,NG