Recent segmental duplications in the human genome
Recent segmental duplications in the human genome
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DOI：
10.1126/science.1072047
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发表时间：
2002-08-09
期刊：
影响因子：
56.9
通讯作者：
Eichler, EE
中科院分区：
文献类型：
--
作者：
Bailey, JA;Gu, ZP;Eichler, EE
灵长类动物特异性的分段重复被认为在人类疾病和进化中很重要。无法区分等位基因和重复序列的重叠已经阻碍了它们的表征以及我们的基因组的组装和注释。我们开发了一种方法，通过在克隆级别分析每个公共序列，以在整个基因组shot弹枪序列中过度占代表性。该测试的能力能够检测重复大于15千目标，而与拷贝数，位置或高序列相似性无关。我们绘制了169个大区域，两侧是高度相似的重复。这些基因组不稳定性的热点中有24个与遗传疾病有关。我们的分析表明，最近的节段重复的高度非随机染色体和遗传分布，可能在扩展蛋白质多样性中作用。
Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun sequence. This test has the ability to detect duplications larger than 15 kilobases irrespective of copy number, location, or high sequence similarity. We mapped 169 large regions flanked by highly similar duplications. Twenty-four of these hot spots of genomic instability have been associated with genetic disease. Our analysis indicates a highly nonrandom chromosomal and genic distribution of recent segmental duplications, with a likely role in expanding protein diversity.