Comparative recombination rates in the rat, mouse, and human genomes
Comparative recombination rates in the rat, mouse, and human genomes
复制标题
DOI：
10.1101/gr.1970304
复制
发表时间：
2004-04-01
期刊：
影响因子：
7
通讯作者：
Jacob, HJ
中科院分区：
文献类型：
--
作者：
Jensen-Seaman, MI;Furey, TS;Jacob, HJ
重组的水平在物种之间、物种内的染色体之间以及哺乳动物的染色体内的区域之间变化。这种异质性可能会影响多样性水平，选择效率和基因组组成，以及对性状的遗传作图有实际影响。我们将遗传图谱与大鼠、小鼠和人类的基因组序列组装进行比较，以估计这些基因组的局部重组率。人类具有更高的重组总体水平，以及更大的差异。在大鼠和小鼠中，染色体的大小和接近端粒对局部重组率的影响小于人类。在染色体水平上，大鼠和小鼠的X染色体重组率最低，而人类的X染色体则不显示相同的模式。在所有物种中，局部重组率与几个序列变量显著相关，包括GC%，CpG密度，重复元件和中性突变率，物种之间存在一些显著差异。当比较基因组的同源同线块时，一个物种的突变率与另一个物种的突变率没有很强的相关性。这种比较方法提供了额外的洞察重组基因组异质性的原因和后果。
Levels of recombination vary among species, among chromosomes within species, and among regions within chromosomes in mammals. This heterogeneity may affect levels of diversity, efficiency of selection, and genome composition, as well as have practical consequences for the genetic mapping of traits. We compared the genetic maps to the genome sequence assemblies of rat, mouse, and human to estimate local recombination rates across these genomes. Humans have greater overall levels of recombination, as well as greater variance. In rat and mouse, the size of the chromosome and proximity to telomere have less effect on local recombination rate than in human. At the chromosome level, rat and mouse X chromosomes have the lowest recombination rates, whereas human chromosome X does not show the same pattern. In all species, local recombination rate is significantly correlated with several sequence variables, including GC%, CpG density, repetitive elements, and the neutral mutation rate, with some pronounced differences between species. Recombination rate in one species is not strongly correlated with the rate in another, when comparing homologous syntenic blocks of the genome. This comparative approach provides additional insight into the causes and consequences of genomic heterogeneity in recombination.