Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
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DOI：
10.1093/hmg/9.11.1665
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发表时间：
2000-07-01
影响因子：
3.5
通讯作者：
Budarf, ML
中科院分区：
文献类型：
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作者：
Kurahashi, H;Shaikh, TH;Budarf, ML
宪法t(11;22)（q23;q11）是唯一已知的复发性非罗伯逊易位。为了分析断点的基因组结构，我们克隆了1（11;22）平衡载体的der（11）和der（22）的连接片段。在第11号染色体上，易位发生在一个短的，回文at丰富区域（ATRR）内，同样，22号染色体上的断点已经定位在一个ATRR内，该ATRR是一个更大的回文的一部分。有趣的是，22q11断点位于基因组序列中“不可克隆”的间隙之一。此外，跨越11q23的t（11;22）断点的测序染色体fl BAC克隆在回文ATRR中被删除，表明该区域在细菌克隆中不稳定。几个不相关的t（11;22）家族在两条染色体上表现出相似的断点，表明它们的易位在相同的回文序列中。回文ATRRs可能在22q11和11q23中产生不稳定的DNA结构，导致t（11;22）易位。
The constitutional t(11;22)(q23;q11) is the only known recurrent, non-Robertsonian translocation. To analyze the genomic structure of the breakpoint, we have cloned the junction fragments from the der(11) and der(22) of a 1(11;22) balanced carrier. On chromosome 11 the translocation occurs within a short, palindromic AT-rich region (ATRR), Likewise, the breakpoint on chromosome 22 has been localized within an ATRR that is part of a larger palindrome. Interestingly, the 22q11 breakpoint falls within one of the 'unclonable' gaps in the genomic sequence. Further, a sequenced chromosome fl BAC clone, spanning the t(11;22) breakpoint in 11q23, is deleted within the palindromic ATRR, suggesting instability of this region in bacterial clones. Several unrelated t(11;22) families demonstrate similar breakpoints on both chromosomes, indicating that their translocations are within the same palindrome, It is likely that the palindromic ATRRs produce unstable DNA structures in 22q11 and 11q23 that are responsible for the recurrent t(11;22) translocation.