Rates and patterns of gene duplication and loss in the human genome

Rates and patterns of gene duplication and loss in the human genome
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DOI:
10.1098/rspb.2004.2969
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发表时间:
2005-02-07
影响因子:
4.7
通讯作者:
Page, RDM
Page, RDM
中科院分区:
生物学1区
文献类型:
--
作者:
Cotton, JA;Page, RDM

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基因复制无疑在构建脊椎动物基因组中发挥了重要作用,但所涉及的复制事件的范围和性质仍存在争议。最近的一项研究确定了两个主要的基因复制事件:一个是大约500年前推测的基因组复制事件,另一个是最近的基因家族扩大,归因于分段或串联复制。我们使用不依赖于单个基因家族的分子时钟的方法来确认这一模式。然而,对出生-死亡过程的一个简单模型的分析表明,最近明显的重复事件是出生-死亡过程的产物。我们发现恒速出生-死亡模型适用于基因复制数据,使我们能够估计过去200Myr(分别为0.00115和0.00740 Myr(-1)谱系(-1))脊椎动物基因组中基因复制和丢失的速率。最后,我们表明,基因丢失率的增加减少了全基因组复制事件对基因复制随时间分布的影响。
Gene duplication has certainly played a major role in structuring vertebrate genomes but the extent and nature of the duplication events involved remains controversial. A recent study identified two major episodes of gene duplication: one episode of putative genome duplication ca. 500 Myr ago and a more recent gene-family expansion attributed to segmental or tandem duplications. We confirm this pattern using methods not reliant on molecular clocks for individual gene families. However, analysis of a simple model of the birth-death process suggests that the apparent recent episode of duplication is an artefact of the birth-death process. We show that a constant-rate birth-death model is appropriate for gene duplication data, allowing us to estimate the rate of gene duplication and loss in the vertebrate genome over the last 200 Myr (0.00115 and 0.00740 Myr(-1) lineage(-1), respectively). Finally, we show that increasing rates of gene loss reduce the impact of a genome-wide duplication event on the distribution of gene duplications through time.