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野生小家鼠群体中的重组和基因组分化的多个基因组景观——染色体融合和 Prdm9 的作用。

Multiple Genomic Landscapes of Recombination and Genomic Divergence in Wild Populations of House Mice-The Role of Chromosomal Fusions and Prdm9.

机构信息

Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Cerdanyola del Vallès 08193, Barcelona, Spain.

Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona, Cerdanyola del Vallès 08193, Barcelona, Spain.

出版信息

Mol Biol Evol. 2024 Apr 2;41(4). doi: 10.1093/molbev/msae063.

Abstract

Chromosomal fusions represent one of the most common types of chromosomal rearrangements found in nature. Yet, their role in shaping the genomic landscape of recombination and hence genome evolution remains largely unexplored. Here, we take advantage of wild mice populations with chromosomal fusions to evaluate the effect of this type of structural variant on genomic landscapes of recombination and divergence. To this aim, we combined cytological analysis of meiotic crossovers in primary spermatocytes with inferred analysis of recombination rates based on linkage disequilibrium using single nucleotide polymorphisms. Our results suggest the presence of a combined effect of Robertsonian fusions and Prdm9 allelic background, a gene involved in the formation of meiotic double strand breaks and postzygotic reproductive isolation, in reshaping genomic landscapes of recombination. We detected a chromosomal redistribution of meiotic recombination toward telomeric regions in metacentric chromosomes in mice with Robertsonian fusions when compared to nonfused mice. This repatterning was accompanied by increased levels of crossover interference and reduced levels of estimated recombination rates between populations, together with high levels of genomic divergence. Interestingly, we detected that Prdm9 allelic background was a major determinant of recombination rates at the population level, whereas Robertsonian fusions showed limited effects, restricted to centromeric regions of fused chromosomes. Altogether, our results provide new insights into the effect of Robertsonian fusions and Prdm9 background on meiotic recombination.

摘要

染色体融合是自然界中最常见的染色体重排类型之一。然而,它们在塑造重组的基因组景观以及因此基因组进化中的作用在很大程度上仍未被探索。在这里,我们利用具有染色体融合的野生小鼠群体来评估这种结构变体对重组和分歧基因组景观的影响。为此,我们结合了减数分裂交叉的细胞学分析和基于单核苷酸多态性的连锁不平衡推断的重组率分析。我们的结果表明,罗伯逊氏融合和 Prdm9 等位基因背景的共同作用,即参与形成减数分裂双链断裂和合子后生殖隔离的基因,重塑了重组的基因组景观。与非融合小鼠相比,我们在具有罗伯逊氏融合的小鼠中检测到减数分裂重组向着丝粒区的着丝粒染色体的染色体重新分布。这种重排伴随着交叉干扰水平的增加和种群间估计的重组率的降低,以及基因组高度分化。有趣的是,我们发现 Prdm9 等位基因背景是群体水平上重组率的主要决定因素,而罗伯逊氏融合的影响有限,仅限于融合染色体的着丝粒区。总之,我们的结果为罗伯逊氏融合和 Prdm9 背景对减数分裂重组的影响提供了新的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13f8/10991077/e55f4a1610df/msae063f1.jpg

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