Terminal 18q deletions are stabilized by neotelomeres.
Terminal 18q deletions are stabilized by neotelomeres.
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末端18q缺失通过新旋转组稳定。
DOI：
10.1186/s13039-015-0135-6
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发表时间：
2015
影响因子：
1.3
通讯作者：
Melaragno MI
中科院分区：
文献类型：
--
作者：
Guilherme RS;Hermetz KE;Varela PT;Perez AB;Meloni VA;Rudd MK;Kulikowski LD;Melaragno MI
All human chromosomes are capped by tandem repeat (TTAGGG)n sequences that protect them against end-to-end fusion and are essential to chromosomal replication and integrity. Therefore, after a chromosomal breakage, the deleted chromosomes must be stabilized by retaining the telomere or acquiring a new cap, by telomere healing or telomere capture. There are few reports with molecular approaches on the mechanisms involved in stabilization of 18q terminal deletions. In this study we analyzed nine patients with 18q terminal deletion identified by G-banding and genomic array. FISH using PNA probe revealed telomeric signals in all deleted chromosomes tested. We fine-mapped breakpoints with customized arrays and sequenced six terminal deletion junctions. In all six deleted chromosomes sequenced, telomeric sequences were found directly attached to the breakpoints. Little or no microhomology was found at the breakpoints and none of the breaks sequenced were located in low copy repeat (LCR) regions, though repetitive elements were found around the breakpoints in five patients. One patient presented a more complex rearrangement with two deleted segments and an addition of 17 base pairs (bp). We found that all six deleted chromosomes sequenced were probably stabilized by the healing mechanism leading to a neotelomere formation. The online version of this article (doi:10.1186/s13039-015-0135-6) contains supplementary material, which is available to authorized users.
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影响因子：
9.8
作者：
Heilstedt, HA;Ballif, BC;Shaffer, LG
通讯作者：
Shaffer, LG
影响因子：
2
作者：
Feenstra, Ilse;Vissers, Lisenka E. L. M.;van Ravenswaaij-Arts, Conny M. A.
通讯作者：
van Ravenswaaij-Arts, Conny M. A.
影响因子：
3.5
作者：
Ballif, BC;Yu, W;Shaffer, LG
通讯作者：
Shaffer, LG
影响因子：
64.8
作者：
Linardopoulou, EV;Williams, EM;Trask, BJ
通讯作者：
Trask, BJ
影响因子：
30.8
作者：
Flint, J;Thomas, K;Higgs, DR
通讯作者：
Higgs, DR