Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Charlotte Auerbach Road, Edinburgh, EH9 3FL, UK.
Heredity (Edinb). 2020 Jan;124(1):28-36. doi: 10.1038/s41437-019-0241-z. Epub 2019 Jun 20.
Individuals of a specified pedigree relationship vary in the proportion of the genome they share identical by descent, i.e. in their realised or actual relationship. Predictions of the variance in realised relationship have previously been based solely on the proportion of the map length shared, which requires the implicit assumption that both recombination rate and genetic information are uniformly distributed along the genome. This ignores the possible existence of recombination hotspots, and fails to distinguish between coding and non-coding sequences. In this paper, we therefore quantify the effects of heterogeneity in recombination rate at broad and fine-scale levels on the variation in realised relationship. Variance is usually greater on a chromosome with a non-uniform recombination rate than on a chromosome with the same map length and uniform recombination rate, especially if recombination rates are higher towards chromosome ends. Reductions in variance can also be obtained, however, and the overall pattern of change is quite complex. In general, local (fine-scale) variation in recombination rate, e.g. hotspots, has a small influence on the variance in realised relationship. Differences in rates across longer regions and between chromosome ends can increase or decrease the variance in a realised relationship, depending on the genomic architecture.
特定血统关系的个体在其共享同源一致的基因组比例上存在差异,即他们的实际或实际关系。实现关系方差的预测以前仅基于共享图谱长度的比例,这需要隐含假设重组率和遗传信息沿基因组均匀分布。这忽略了可能存在的重组热点,并且无法区分编码序列和非编码序列。因此,在本文中,我们定量分析了广泛和精细尺度上重组率异质性对实现关系变化的影响。在具有非均匀重组率的染色体上,方差通常大于具有相同图谱长度和均匀重组率的染色体上的方差,特别是如果重组率在染色体末端更高。然而,也可以获得方差的降低,并且整体变化模式非常复杂。一般来说,重组率的局部(精细尺度)变化,例如热点,对实现关系的方差影响很小。跨越较长区域和染色体末端的速率差异会增加或减少实现关系的方差,具体取决于基因组结构。