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基于模型推断高变癌基因中的重组热点[已修正]

Model-based inference of recombination hotspots in a highly variable oncogene [corrected].

作者信息

Greenspan G, Geiger D, Gotch F, Bower M, Patterson S, Nelson M, Gazzard B, Stebbing J

机构信息

Computer Science Department, Technion, Technion City, Haifa 32000, Israel.

出版信息

J Mol Evol. 2004 Mar;58(3):239-51. doi: 10.1007/s00239-003-2543-1.

Abstract

An emergent problem in the study of pathogen evolution is our ability to determine the extent to which their rapidly evolving genomes recombine. Such information is necessary and essential for locating pathogenicity loci using association studies, and it also directs future screening, therapeutic and vaccination strategies. Recombination also complicates the use of phylogenetic approaches to infer evolutionary parameters including selection pressures. Reliable methods that identify the presence of regions of recombination are therefore vital. We illustrate the use of an integrated model-based approach to inferring recombination structure using all available sequences of the highly variable, transforming Kaposi's sarcoma-associated herpesviral gene, ORF-K1. This technique learns the parameters of a statistical model that takes recombination hotspots, population genetic effects, and variable rates of mutation into account. As there are no known mechanisms to explain the high mutation rate in this DNA viral gene, recombination may account for some of the variability observed. We infer recombination hotspots in conserved sites such as the tyrosine kinase signaling motif, referred to here as recombination drift, as well as in nonconserved sites, a process described as recombination shift.

摘要

病原体进化研究中一个亟待解决的问题是,我们能否确定其快速进化的基因组发生重组的程度。这类信息对于利用关联研究定位致病位点而言是必要且至关重要的,同时它还指导着未来的筛查、治疗及疫苗接种策略。重组也使得运用系统发育方法推断包括选择压力在内的进化参数变得复杂。因此,可靠的识别重组区域存在的方法至关重要。我们展示了一种基于整合模型的方法,该方法利用高度可变的、具有转化能力的卡波西肉瘤相关疱疹病毒基因ORF-K1的所有可用序列来推断重组结构。这项技术能够学习一个统计模型的参数,该模型考虑了重组热点、群体遗传效应以及可变的突变率。由于尚无已知机制来解释这种DNA病毒基因的高突变率,重组可能是所观察到的部分变异性的原因。我们推断在保守位点(如酪氨酸激酶信号基序,此处称为重组漂移)以及非保守位点存在重组热点,这一过程被描述为重组转移。

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