A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia
A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia
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DOI：
10.1007/s004390050210
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发表时间：
1996-09-01
期刊：
影响因子：
5.3
通讯作者：
RoyerPokora, B
中科院分区：
文献类型：
--
作者：
Drechsler, M;RoyerPokora, B
我们在一个无虹膜但无肾母细胞瘤的家族中发现了11 p13的300 kb种系缺失。断裂点的克隆和测序显示，缺失开始于PAX 6基因的内含子10，并去除富含脯氨酸-丝氨酸-苏氨酸结构域的C-末端部分，使两个DNA结合结构域保持完整。PAX 6基因与LINE-1（L1）元件头对头连接。L1在3'端被截短，去除了部分ORF 2。L1元件的测序表明它不编码功能性转座酶，因此可能不是活性元件。这些数据表明，L1元件通常存在于11 p13的远端缺失端点的位点。在缺失连接点处未检测到广泛的序列同源性;然而，PAX 6基因以及L1元件在该位置处具有T核苷酸的运行，表明缺失通过非同源重组发生。拓扑异构酶I的几个共识识别序列侧翼的缺失位点在两个序列中，这表明在删除重组过程中，这种酶的参与。
We have identified a 300-kb germline deletion in 11p13 in a family with aniridia but no Wilms' tumor. Cloning and sequencing of the breakpoint revealed that the deletion starts in intron 10 of the PAX6 gene and removes the C-terminal part of the proline-serine-threonine rich domain, leaving both DNA-binding domains intact. The PAX6 gene is joined head-to-head to a LINE-1 (L1) element. The L1 is truncated at the 3' end, removing part of ORF2. Sequencing of the L1 element shows that it does not encode a functional transposase and is therefore probably not an active element. These data suggest that the L1 element is normally present at the site of the distal deletion endpoint in 11p13. No extensive sequence homologies are detected at the deletion junction points; however, the PAX6;gene as well as the L1 element have runs of T nucleotides at this position, indicating that the deletion occurred by nonhomologous recombination. Several consensus recognition sequences for topoisomerase I flank the deletion site in both sequences, suggesting an involvement of this enzyme during the deletion-recombination process.