Qiu Shuhao, McSweeny Andrew, Choulet Samuel, Saha-Mandal Arnab, Fedorova Larisa, Fedorov Alexei
Program in Bioinformatics and Proteomics/Genomics, University of Toledo.
Genome Biol Evol. 2014 Apr;6(4):988-99. doi: 10.1093/gbe/evu075.
Mammalian genomes are replete with millions of polymorphic sites, among which those genetic variants that are colocated on the same chromosome and exist close to one another form blocks of closely linked mutations known as haplotypes. The linkage within haplotypes is constantly disrupted due to meiotic recombination events. Whole ensembles of such numerous haplotypes are subjected to evolutionary pressure, where mutations influence each other and should be considered as a whole entity-a gigantic matrix, unique for each individual genome. This idea was implemented into a computational approach, named Genome Evolution by Matrix Algorithms (GEMA) to model genomic changes taking into account all mutations in a population. GEMA has been tested for modeling of entire human chromosomes. The program can precisely mimic real biological processes that have influence on genome evolution such as: 1) Authentic arrangements of genes and functional genomic elements, 2) frequencies of various types of mutations in different nucleotide contexts, and 3) nonrandom distribution of meiotic recombination events along chromosomes. Computer modeling with GEMA has demonstrated that the number of meiotic recombination events per gamete is among the most crucial factors influencing population fitness. In humans, these recombinations create a gamete genome consisting on an average of 48 pieces of corresponding parental chromosomes. Such highly mosaic gamete structure allows preserving fitness of population under the intense influx of novel mutations (40 per individual) even when the number of mutations with deleterious effects is up to ten times more abundant than those with beneficial effects.
哺乳动物基因组中充斥着数以百万计的多态性位点,其中那些位于同一条染色体上且彼此相邻的遗传变异形成了紧密连锁突变的模块,即单倍型。由于减数分裂重组事件,单倍型内的连锁不断被破坏。如此众多单倍型的整体受到进化压力的影响,其中突变相互影响,应被视为一个整体——一个巨大的矩阵,对每个个体基因组而言都是独一无二的。这一理念被应用于一种计算方法,即矩阵算法基因组进化(GEMA),以在考虑种群中所有突变的情况下对基因组变化进行建模。GEMA已被用于对整个人类染色体进行建模测试。该程序能够精确模拟对基因组进化有影响的真实生物学过程,例如:1)基因和功能基因组元件的真实排列;2)不同核苷酸背景下各种类型突变的频率;3)减数分裂重组事件沿染色体的非随机分布。使用GEMA进行的计算机建模表明,每个配子中的减数分裂重组事件数量是影响种群适应性的最关键因素之一。在人类中,这些重组产生的配子基因组平均由48段相应的亲本染色体组成。这种高度嵌合的配子结构使得即使有害突变的数量比有益突变多十倍,在新突变大量涌入(每人40个)的情况下,种群仍能保持适应性。