A satellite-like sequence, representing a "clone gap" in the human genome, was likely involved in the seeding of a novel centromere in macaque
A satellite-like sequence, representing a "clone gap" in the human genome, was likely involved in the seeding of a novel centromere in macaque
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DOI：
10.1007/s00412-008-0196-y
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发表时间：
2009-04-01
期刊：
影响因子：
1.6
通讯作者：
Rocchi, Mariano
中科院分区：
文献类型：
--
作者：
Carbone, Lucia;D'addabbo, Pietro;Rocchi, Mariano
虽然人类基因组序列通常被认为是“完成”的，但最新的组装（NCBI Build 36.1）仍然存在一些差距。它们中的一些被定义为“克隆间隙”，因为它们分隔相邻的重叠群。进化的新着丝粒是在进化过程中沿着染色体沿着重新定位的着丝粒，没有标记顺序的变化。我们发现，在18q21.2的一个人类“克隆缺口”对应于旧世界猴（OWM）的一个进化新的着丝粒。部分测序的缺口揭示了卫星样结构。在猕猴（位于18号染色体着丝粒两侧）和作为外群的绒猴（新世界猴）中发现了相同卫星的DNA片段。这些发现强烈地表明，在OWM祖先中新的着丝粒播种时存在重复序列。因此，我们提供了一个特定序列的第一个实例，该序列被假设在触发进化新着丝粒的出现中发挥了作用。
Although the human genome sequence is generally considered "finished", the latest assembly (NCBI Build 36.1) still presents a number of gaps. Some of them are defined as "clone gaps" because they separate neighboring contigs. Evolutionary new centromeres are centromeres that repositioned along the chromosome, without marker order variation, during evolution. We have found that one human "clone gap" at 18q21.2 corresponds to an evolutionary new centromere in Old World Monkeys (OWM). The partially sequenced gap revealed a satellite-like structure. DNA stretches of the same satellite were found in the macaque (flanking the chromosome 18 centromere) and in the marmoset (New World Monkey), which was used as an outgroup. These findings strongly suggested that the repeat was present at the time of novel centromere seeding in OWM ancestor. We have provided, therefore, the first instance of a specific sequence hypothesized to have played a role in triggering the emergence of an evolutionary new centromere.