Hotspots of mammalian chromosomal evolution.
Hotspots of mammalian chromosomal evolution.
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DOI：
10.1186/gb-2004-5-4-r23
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发表时间：
2004
期刊：
影响因子：
12.3
通讯作者：
Eichler EE
中科院分区：
文献类型：
--
作者：
Bailey JA;Baertsch R;Kent WJ;Haussler D;Eichler EE
这项研究报告了丰富的灵长类动物特有的节段性重复在人类基因组中的同线块的断点。节段性重复与同线重排有关，但不一定导致同线重排。染色体进化被认为是通过随机的断裂和重排过程发生的，导致核型差异和基因顺序的破坏。随着人类和小鼠基因组序列的可用性，现在可以详细分析这些断点的序列特性。我们报告了丰富的灵长类动物特异性片段重复在人类基因组中的同线块的断点。使用保守标准，我们发现25%（122/461）的所有断裂点含有≥ 10 kb的重复序列。与模拟随机断裂模型相比，这种关联非常显著（p < 0.0001）。的意义是强大的各种参数下，多组保守的同线性数据，和染色体之间和染色体内的正向断裂点。自从大鼠和小鼠的分歧以来，对小鼠谱系特异性断点的比较显示出与灵长类基因组中与节段性重复相关的区域的类似关联。这些结果表明，节段性重复与同线重排，即使当pericentromeric和subtelomeric地区被排除在外。然而，片段重复不一定是重排的原因。相反，我们的分析支持染色体进化的非随机模型，该模型暗示哺乳动物基因组内的特定区域易发生反复的小规模重复和大规模进化重排。
This study reports an abundance of primate-specific segmental duplications at the breakpoints of syntenic blocks in the human genome. Segmental duplications are associated with syntenic rearrangements but do not necessarily cause them. Chromosomal evolution is thought to occur through a random process of breakage and rearrangement that leads to karyotype differences and disruption of gene order. With the availability of both the human and mouse genomic sequences, detailed analysis of the sequence properties underlying these breakpoints is now possible. We report an abundance of primate-specific segmental duplications at the breakpoints of syntenic blocks in the human genome. Using conservative criteria, we find that 25% (122/461) of all breakpoints contain ≥ 10 kb of duplicated sequence. This association is highly significant (p < 0.0001) when compared to a simulated random-breakage model. The significance is robust under a variety of parameters, multiple sets of conserved synteny data, and for orthologous breakpoints between and within chromosomes. A comparison of mouse lineage-specific breakpoints since the divergence of rat and mouse showed a similar association with regions associated with segmental duplications in the primate genome. These results indicate that segmental duplications are associated with syntenic rearrangements, even when pericentromeric and subtelomeric regions are excluded. However, segmental duplications are not necessarily the cause of the rearrangements. Rather, our analysis supports a nonrandom model of chromosomal evolution that implicates specific regions within the mammalian genome as having been predisposed to both recurrent small-scale duplication and large-scale evolutionary rearrangements.
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